Materiały źródłowe

• #1 Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention

  https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-18-causes-symptoms-types-diagnosis-treatment-and-prevention

  Trisomy 18, also referred to as Edwards syndrome, is a highly significant genetic disorder that has an impact on how your child’s body grows and develops. Trisomy 18 is characterized by various birth abnormalities, low birth weight, and peculiar physical characteristics. […] The babies with trisomy 18 frequently have a wide range of major health issues and physical flaws, including: Cleft palate, Hard to straighten clenched fists with overlapping fingers, Lung, kidney, and stomach/intestine defects, Deformed feet, also referred to as „rocker-bottom feet” due to their resemblance to the bottom of a rocking chair, Feeding issues, Heart defects, such as a hole in the upper (atrial septal defect) or lower (ventricular septal defect) chambers of the heart chambers, Drooping ears, Severe delays in development, Chest malformation, Sluggish growth, Microcephaly, small head, Micrognathia, a little jaw, Poor cry.

• #2 Edwards Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK570597/

  Edwards syndrome was first reported by Edwards et al in 1960 in a neonate with multiple congenital malformations and cognitive deficits. […] Traditionally, infants diagnosed with trisomy 18 are offered comfort care as the condition is deemed lethal. Recent literature suggests a shift in the management of the condition. Comprehensive care requires a multidisciplinary approach and empathetic support for families to navigate complex medical and ethical decisions. […] This activity reviews the clinical presentation, evaluation, and management of Edwards syndrome, highlighting key information useful for the interprofessional team in identifying, assessing, and approaching patients with this condition and their families. […] There is no definitive treatment for Edwards syndrome. Ethical issues exist around the treatment plan for newborns with Edwards syndrome due to the high mortality rate and difficulty predicting which infants survive beyond their first year of life. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests.

• #3 Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18 – PubMed

  https://pubmed.ncbi.nlm.nih.gov/39257320/

  Trisomy 18 syndrome, also known as Edwards syndrome, is the second most common autosomal chromosome syndrome after Down syndrome. Trisomy 18 is a serious medical disorder due to the increased occurrence of structural defects, the high neonatal and infant mortality, and the disabilities observed in older children. […] Knowledge of the parental viewpoints can help clinicians guide families through decision-making. […] We examined the voice and the perspectives of the parents in their challenges in caring for their children with this life-limiting condition. The exploration of the themes can ideally guide clinicians in their approach to the counseling and care of the child in a shared decision-making approach.

• #4 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Edwards syndrome typically results from an extra copy of chromosome 18q. There are 3 types of Edwards syndrome: complete trisomy 18, partial trisomy 18, and mosaic trisomy 18. […] The child with Edwards syndrome should be assessed for growth during each visit, and results should be plotted on specific growth charts. […] Cognitive and motor development should be assessed at each visit, and referral to early intervention, if needed, is recommended. […] An echocardiogram at birth should be performed to evaluate for congenital heart disease and pulmonary hypertension. […] There is no definitive treatment for Edwards syndrome. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests. […] Delivery room and neonatal intensive care unit management: Previously, trisomy 18 was considered lethal, and resuscitation at birth was not indicated.

• #5 Edwards’ syndrome (trisomy 18)

  https://www.nhs.uk/conditions/edwards-syndrome/

  Edwards’ syndrome is a rare genetic condition that cannot currently be cured. […] Most babies with full Edwards syndrome (full trisomy 18) die before or shortly after being born. […] There’s currently no cure for Edwards’ syndrome, but there are treatments and support to help children and adults with the condition have the best possible quality of life. […] A range of healthcare professionals may be involved in your child’s care. They’ll help to create a care plan and advise you about which treatments are suitable for your child’s specific needs. Treatment and support may include regular monitoring and treatment (including surgery) for heart problems, breathing problems and digestive issues, physiotherapy, occupational therapy and speech therapy, pain control and palliative care for more severe symptoms. […] If your child has Edwards’ syndrome, healthcare professionals will be there to support you. […] You may also find it helpful to get support from other people with Edwards’ syndrome, or parents of children with Edwards’ syndrome.

• #6 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A goal-directed management plan based on careful risk-benefit assessment for the individual patient and developed collaboratively between health professionals and parents is recommended. […] There are confirmed 20+-year-old patients with this disorder; at least 5-10% of these patients survive, and parents are not typically prepared to care for them long term. Cardiac management is perhaps the most important decision parents have to make. […] Treat infections as appropriate. These are usually secondary to otitis media, upper respiratory tract infections (eg, bronchitis, pneumonia), and urinary tract infection. Sepsis is an ongoing concern. […] Provide nasogastric and gastrostomy supplementation for feeding problems. […] Orthopedic management of scoliosis may be needed secondary to hemivertebrae.

• #7 Edwards Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK570597/

  Edwards syndrome was first reported by Edwards et al in 1960 in a neonate with multiple congenital malformations and cognitive deficits. […] Traditionally, infants diagnosed with trisomy 18 are offered comfort care as the condition is deemed lethal. Recent literature suggests a shift in the management of the condition. Comprehensive care requires a multidisciplinary approach and empathetic support for families to navigate complex medical and ethical decisions. […] This activity reviews the clinical presentation, evaluation, and management of Edwards syndrome, highlighting key information useful for the interprofessional team in identifying, assessing, and approaching patients with this condition and their families. […] There is no definitive treatment for Edwards syndrome. Ethical issues exist around the treatment plan for newborns with Edwards syndrome due to the high mortality rate and difficulty predicting which infants survive beyond their first year of life. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests.

• #8 Edwards Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK570597/

  Edwards syndrome was first reported by Edwards et al in 1960 in a neonate with multiple congenital malformations and cognitive deficits. […] Traditionally, infants diagnosed with trisomy 18 are offered comfort care as the condition is deemed lethal. Recent literature suggests a shift in the management of the condition. Comprehensive care requires a multidisciplinary approach and empathetic support for families to navigate complex medical and ethical decisions. […] This activity reviews the clinical presentation, evaluation, and management of Edwards syndrome, highlighting key information useful for the interprofessional team in identifying, assessing, and approaching patients with this condition and their families. […] There is no definitive treatment for Edwards syndrome. Ethical issues exist around the treatment plan for newborns with Edwards syndrome due to the high mortality rate and difficulty predicting which infants survive beyond their first year of life. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests.

• #9 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Management of neonates with trisomy 18 is controversial because of poor prognosis and the lack of information about the efficacy of treatment. […] Improved survival (in one study, survival rates at age 1 wk, 1 mo, and 1 y, respectively, were 88%, 83%, and 25%; median survival time, 152.5 d) through NICU treatment (eg, cesarean delivery, resuscitation, respiratory support, and surgical procedures) may help clinicians to offer informed treatment options to families of patients with trisomy 18. […] A survey of US neonatologists regarding newborn care of trisomy 18 infants reported that 44% would provide medical intervention (including resuscitation), primarily because of parental wishes to support the baby. […] During the neonatal period, issues of diagnosis and survival are paramount. Parents need information about the syndrome, including its cause, implications, and possible outcomes.

• #10 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Management of neonates with trisomy 18 is controversial because of poor prognosis and the lack of information about the efficacy of treatment. […] Improved survival (in one study, survival rates at age 1 wk, 1 mo, and 1 y, respectively, were 88%, 83%, and 25%; median survival time, 152.5 d) through NICU treatment (eg, cesarean delivery, resuscitation, respiratory support, and surgical procedures) may help clinicians to offer informed treatment options to families of patients with trisomy 18. […] A survey of US neonatologists regarding newborn care of trisomy 18 infants reported that 44% would provide medical intervention (including resuscitation), primarily because of parental wishes to support the baby. […] During the neonatal period, issues of diagnosis and survival are paramount. Parents need information about the syndrome, including its cause, implications, and possible outcomes.

• #11 Parents & Families | Trisomy 18 Foundation

  https://trisomy18.org/parents-families/

  Finding out that your child has a diagnosis of Trisomy 18 is life-changing. You face an uncertain future and have many, many questions. […] We have the resources and answers you need to understand your child’s diagnosis and make informed decisions about their health. […] At birth, intensive care admissions in Neonatal Intensive Care Units (NICU’s) are routine for infants with Trisomy 18. […] Some infants will be able to survive to be discharged from the hospital with home nursing support to assist with care by the parents. […] A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independently without full-time caregiving. […] The extra genetic material from the extra eighteenth chromosome can cause a wide variety of medical and developmental problems (sometimes referred to as birth defects) in the developing child in the mother’s womb and after birth. […] However, all studies on survival rates show that there is a high mortality rate for children with Trisomy 18 before or shortly after birth. […] If a diagnostic test indicates a Trisomy 18 diagnosis, you will be faced with making decisions about your child’s care.

• #12 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Management of neonates with trisomy 18 is controversial because of poor prognosis and the lack of information about the efficacy of treatment. […] Improved survival (in one study, survival rates at age 1 wk, 1 mo, and 1 y, respectively, were 88%, 83%, and 25%; median survival time, 152.5 d) through NICU treatment (eg, cesarean delivery, resuscitation, respiratory support, and surgical procedures) may help clinicians to offer informed treatment options to families of patients with trisomy 18. […] A survey of US neonatologists regarding newborn care of trisomy 18 infants reported that 44% would provide medical intervention (including resuscitation), primarily because of parental wishes to support the baby. […] During the neonatal period, issues of diagnosis and survival are paramount. Parents need information about the syndrome, including its cause, implications, and possible outcomes.

• #13 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Feeding difficulties are common and often require tube feeding in neonatal period and gastrostomy in older children. Gastro-oesophageal reflux is common and can be a significant problem which is linked to recurrent aspiration and death. […] Cardiac defects have traditionally been managed conservatively as they are not usually regarded as a cause of early infant mortality although some studies report early development of pulmonary hypertension induced by heart defects having a significant role in early death. Recently, a large series of patients undergoing surgical management has shown that most children with Edwards’ syndrome tolerate heart surgery well. […] Respiratory problems in the form of upper airway obstruction or apnoea may need specialist respiratory assessment and input, including sleep studies. Treatment options including home monitoring; oxygen can be arranged as necessary in individual cases in close discussion with parents. Some children may require tracheostomy for continued respiratory support. […] Neurological and developmental evaluation helps in assessing the need for physiotherapy and specialised developmental support. Seizure can usually be managed well with standard anticonvulsant treatment.

• #14 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Feeding difficulties are common and often require tube feeding in neonatal period and gastrostomy in older children. Gastro-oesophageal reflux is common and can be a significant problem which is linked to recurrent aspiration and death. […] Cardiac defects have traditionally been managed conservatively as they are not usually regarded as a cause of early infant mortality although some studies report early development of pulmonary hypertension induced by heart defects having a significant role in early death. Recently, a large series of patients undergoing surgical management has shown that most children with Edwards’ syndrome tolerate heart surgery well. […] Respiratory problems in the form of upper airway obstruction or apnoea may need specialist respiratory assessment and input, including sleep studies. Treatment options including home monitoring; oxygen can be arranged as necessary in individual cases in close discussion with parents. Some children may require tracheostomy for continued respiratory support. […] Neurological and developmental evaluation helps in assessing the need for physiotherapy and specialised developmental support. Seizure can usually be managed well with standard anticonvulsant treatment.

• #15 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Feeding difficulties are common and often require tube feeding in neonatal period and gastrostomy in older children. Gastro-oesophageal reflux is common and can be a significant problem which is linked to recurrent aspiration and death. […] Cardiac defects have traditionally been managed conservatively as they are not usually regarded as a cause of early infant mortality although some studies report early development of pulmonary hypertension induced by heart defects having a significant role in early death. Recently, a large series of patients undergoing surgical management has shown that most children with Edwards’ syndrome tolerate heart surgery well. […] Respiratory problems in the form of upper airway obstruction or apnoea may need specialist respiratory assessment and input, including sleep studies. Treatment options including home monitoring; oxygen can be arranged as necessary in individual cases in close discussion with parents. Some children may require tracheostomy for continued respiratory support. […] Neurological and developmental evaluation helps in assessing the need for physiotherapy and specialised developmental support. Seizure can usually be managed well with standard anticonvulsant treatment.

• #16 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. […] The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.

• #17 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. […] The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.

• #18 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following: […] Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18. […] In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect-related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect-related death; and initial palliative surgery was associated with longer survival than intracardiac repair.

• #19 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following: […] Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18. […] In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect-related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect-related death; and initial palliative surgery was associated with longer survival than intracardiac repair.

• #20 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following: […] Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18. […] In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect-related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect-related death; and initial palliative surgery was associated with longer survival than intracardiac repair.

• #21 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following: […] Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18. […] In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect-related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect-related death; and initial palliative surgery was associated with longer survival than intracardiac repair.

• #22 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A retrospective study by Nakai et al indicated that cardiac surgery can prolong survival in trisomy-18 patients who have high pulmonary blood flow. […] Using the Pediatric Health Information System database, a study by Furlong-Dillard et al found evidence that pediatric patients with trisomy 13 or 18 who undergo cardiac surgery are at greater perioperative risk of pulmonary hypertension, acute renal failure, cardiac arrest, and nosocomial infections.

• #23 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A retrospective study by Nakai et al indicated that cardiac surgery can prolong survival in trisomy-18 patients who have high pulmonary blood flow. […] Using the Pediatric Health Information System database, a study by Furlong-Dillard et al found evidence that pediatric patients with trisomy 13 or 18 who undergo cardiac surgery are at greater perioperative risk of pulmonary hypertension, acute renal failure, cardiac arrest, and nosocomial infections.

• #24 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. […] The growth delay starts in prenatal period and continues after the birth, and most of the time is associated with feeding problems that may require enteral nutrition. […] Most of the children have feeding difficulties that often require tube feeding in the neonatal period or placement of gastrostomy in the older children (at average age of 8 months). […] Gastroesophageal reflux is a significant medical problem because of both its high prevalence and its potential consequences, like irritability, recurrent pneumonia and aspiration. […] The key ingredient in carrying out effective health supervision in the care of infants and children with trisomy 18 is a committed primary care practitioner. As pointed out by Carey a clinician who is willing to oversee the care and provide ongoing support to the family should not be hesitant to take on the challenge of shepherding the management of a child with this disorder (despite its relative rareness) and providing the Medical Home for the children.

• #25 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. […] The growth delay starts in prenatal period and continues after the birth, and most of the time is associated with feeding problems that may require enteral nutrition. […] Most of the children have feeding difficulties that often require tube feeding in the neonatal period or placement of gastrostomy in the older children (at average age of 8 months). […] Gastroesophageal reflux is a significant medical problem because of both its high prevalence and its potential consequences, like irritability, recurrent pneumonia and aspiration. […] The key ingredient in carrying out effective health supervision in the care of infants and children with trisomy 18 is a committed primary care practitioner. As pointed out by Carey a clinician who is willing to oversee the care and provide ongoing support to the family should not be hesitant to take on the challenge of shepherding the management of a child with this disorder (despite its relative rareness) and providing the Medical Home for the children.

• #26 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. […] The growth delay starts in prenatal period and continues after the birth, and most of the time is associated with feeding problems that may require enteral nutrition. […] Most of the children have feeding difficulties that often require tube feeding in the neonatal period or placement of gastrostomy in the older children (at average age of 8 months). […] Gastroesophageal reflux is a significant medical problem because of both its high prevalence and its potential consequences, like irritability, recurrent pneumonia and aspiration. […] The key ingredient in carrying out effective health supervision in the care of infants and children with trisomy 18 is a committed primary care practitioner. As pointed out by Carey a clinician who is willing to oversee the care and provide ongoing support to the family should not be hesitant to take on the challenge of shepherding the management of a child with this disorder (despite its relative rareness) and providing the Medical Home for the children.

• #27 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Feeding management: Nasogastric tube feeding and gastrostomy feeding are considered to address feeding issues. […] Cardiac management: Diuretics and digoxin are used for heart failure. […] Prompt consultation with an interprofessional healthcare team can improve the outcome of Edwards syndrome. […] Deterrence and patient education in Edwards syndrome focus on providing families with comprehensive, empathetic counseling to facilitate informed decision-making. […] Managing Edwards syndrome requires healthcare professionals to develop specialized skills in diagnosis, compassionate communication, and tailoring individualized care plans.

• #28 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A goal-directed management plan based on careful risk-benefit assessment for the individual patient and developed collaboratively between health professionals and parents is recommended. […] There are confirmed 20+-year-old patients with this disorder; at least 5-10% of these patients survive, and parents are not typically prepared to care for them long term. Cardiac management is perhaps the most important decision parents have to make. […] Treat infections as appropriate. These are usually secondary to otitis media, upper respiratory tract infections (eg, bronchitis, pneumonia), and urinary tract infection. Sepsis is an ongoing concern. […] Provide nasogastric and gastrostomy supplementation for feeding problems. […] Orthopedic management of scoliosis may be needed secondary to hemivertebrae.

• #29 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A goal-directed management plan based on careful risk-benefit assessment for the individual patient and developed collaboratively between health professionals and parents is recommended. […] There are confirmed 20+-year-old patients with this disorder; at least 5-10% of these patients survive, and parents are not typically prepared to care for them long term. Cardiac management is perhaps the most important decision parents have to make. […] Treat infections as appropriate. These are usually secondary to otitis media, upper respiratory tract infections (eg, bronchitis, pneumonia), and urinary tract infection. Sepsis is an ongoing concern. […] Provide nasogastric and gastrostomy supplementation for feeding problems. […] Orthopedic management of scoliosis may be needed secondary to hemivertebrae.

• #30 Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention

  https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-18-causes-symptoms-types-diagnosis-treatment-and-prevention

  Treatment for cardiac issues: Trisomy 18 (Edwards syndrome) patients almost always experience cardiac issues. Some infants with cardiac issues brought on by Edwards syndrome (trisomy 18) may be candidates for surgery. Assisted feeding is sometimes necessary for children with Edwards syndrome (trisomy 18), as their delayed physical development makes it difficult for them to eat normally. If your infant experiences early feeding issues after birth, a feeding tube can be required. Orthopedic care: Your child’s movement may be affected by spine issues such as scoliosis in children with Edwards syndrome (trisomy 18). Orthopedic treatment options include surgery or bracing. Support is available for you, your family, and your kid with Edwards syndrome (trisomy 18), particularly if you need assistance coping with the death of your child or navigating your child’s challenging diagnosis.

• #31 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A goal-directed management plan based on careful risk-benefit assessment for the individual patient and developed collaboratively between health professionals and parents is recommended. […] There are confirmed 20+-year-old patients with this disorder; at least 5-10% of these patients survive, and parents are not typically prepared to care for them long term. Cardiac management is perhaps the most important decision parents have to make. […] Treat infections as appropriate. These are usually secondary to otitis media, upper respiratory tract infections (eg, bronchitis, pneumonia), and urinary tract infection. Sepsis is an ongoing concern. […] Provide nasogastric and gastrostomy supplementation for feeding problems. […] Orthopedic management of scoliosis may be needed secondary to hemivertebrae.

• #32 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  A goal-directed management plan based on careful risk-benefit assessment for the individual patient and developed collaboratively between health professionals and parents is recommended. […] There are confirmed 20+-year-old patients with this disorder; at least 5-10% of these patients survive, and parents are not typically prepared to care for them long term. Cardiac management is perhaps the most important decision parents have to make. […] Treat infections as appropriate. These are usually secondary to otitis media, upper respiratory tract infections (eg, bronchitis, pneumonia), and urinary tract infection. Sepsis is an ongoing concern. […] Provide nasogastric and gastrostomy supplementation for feeding problems. […] Orthopedic management of scoliosis may be needed secondary to hemivertebrae.

• #33 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Feeding difficulties are common and often require tube feeding in neonatal period and gastrostomy in older children. Gastro-oesophageal reflux is common and can be a significant problem which is linked to recurrent aspiration and death. […] Cardiac defects have traditionally been managed conservatively as they are not usually regarded as a cause of early infant mortality although some studies report early development of pulmonary hypertension induced by heart defects having a significant role in early death. Recently, a large series of patients undergoing surgical management has shown that most children with Edwards’ syndrome tolerate heart surgery well. […] Respiratory problems in the form of upper airway obstruction or apnoea may need specialist respiratory assessment and input, including sleep studies. Treatment options including home monitoring; oxygen can be arranged as necessary in individual cases in close discussion with parents. Some children may require tracheostomy for continued respiratory support. […] Neurological and developmental evaluation helps in assessing the need for physiotherapy and specialised developmental support. Seizure can usually be managed well with standard anticonvulsant treatment.

• #34 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Feeding difficulties are common and often require tube feeding in neonatal period and gastrostomy in older children. Gastro-oesophageal reflux is common and can be a significant problem which is linked to recurrent aspiration and death. […] Cardiac defects have traditionally been managed conservatively as they are not usually regarded as a cause of early infant mortality although some studies report early development of pulmonary hypertension induced by heart defects having a significant role in early death. Recently, a large series of patients undergoing surgical management has shown that most children with Edwards’ syndrome tolerate heart surgery well. […] Respiratory problems in the form of upper airway obstruction or apnoea may need specialist respiratory assessment and input, including sleep studies. Treatment options including home monitoring; oxygen can be arranged as necessary in individual cases in close discussion with parents. Some children may require tracheostomy for continued respiratory support. […] Neurological and developmental evaluation helps in assessing the need for physiotherapy and specialised developmental support. Seizure can usually be managed well with standard anticonvulsant treatment.

• #35 Edward’s Syndrome (Trisomy 18) – Care Options for Kids

  https://careoptionsforkids.com/blog/edwards-syndrome

  Taking care of a child with trisomy 18 requires an entire team of individuals. This can include specialists, such as pediatricians, genetic counselors, occupational therapists, physiotherapists, and speech pathologists. […] Depending on the type of trisomy 18, your child may need artificial assistance for breathing and feedings. Talk with their medical providers for options and with your health insurance provider for coverage. […] Your child will need constant monitoring and supportive medical care to improve their quality of life. In addition, all babies born with trisomy 18 will have a learning disability. Therefore, if they make it to school age, they will need support there as well. […] It’s crucial to be aware your child may not live past their first few months or years of life. It’s beneficial to have a good support network, such as family, friends, mental health professionals, and support groups. […] Our dedicated team of pediatric home health care nurses are here to support your family with compassionate, expert care tailored to your child’s needs.

• #36 Edwards Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK570597/

  Prompt consultation with an interprofessional healthcare team can improve the outcome of Edwards syndrome. […] Early childhood intervention and community nursing support can be recommended. […] Deterrence and patient education in Edwards syndrome focus on providing families with comprehensive, empathetic counseling to facilitate informed decision-making. […] Emphasizing a shared decision-making approach ensures families feel supported while planning for the child’s care. […] Managing Edwards syndrome requires healthcare professionals to develop specialized skills in diagnosis, compassionate communication, and tailoring individualized care plans. […] Clear and consistent interprofessional communication ensures that care plans align across disciplines.

• #37 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Feeding management: Nasogastric tube feeding and gastrostomy feeding are considered to address feeding issues. […] Cardiac management: Diuretics and digoxin are used for heart failure. […] Prompt consultation with an interprofessional healthcare team can improve the outcome of Edwards syndrome. […] Deterrence and patient education in Edwards syndrome focus on providing families with comprehensive, empathetic counseling to facilitate informed decision-making. […] Managing Edwards syndrome requires healthcare professionals to develop specialized skills in diagnosis, compassionate communication, and tailoring individualized care plans.

• #38 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Edwards syndrome typically results from an extra copy of chromosome 18q. There are 3 types of Edwards syndrome: complete trisomy 18, partial trisomy 18, and mosaic trisomy 18. […] The child with Edwards syndrome should be assessed for growth during each visit, and results should be plotted on specific growth charts. […] Cognitive and motor development should be assessed at each visit, and referral to early intervention, if needed, is recommended. […] An echocardiogram at birth should be performed to evaluate for congenital heart disease and pulmonary hypertension. […] There is no definitive treatment for Edwards syndrome. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests. […] Delivery room and neonatal intensive care unit management: Previously, trisomy 18 was considered lethal, and resuscitation at birth was not indicated.

• #39 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Edwards syndrome typically results from an extra copy of chromosome 18q. There are 3 types of Edwards syndrome: complete trisomy 18, partial trisomy 18, and mosaic trisomy 18. […] The child with Edwards syndrome should be assessed for growth during each visit, and results should be plotted on specific growth charts. […] Cognitive and motor development should be assessed at each visit, and referral to early intervention, if needed, is recommended. […] An echocardiogram at birth should be performed to evaluate for congenital heart disease and pulmonary hypertension. […] There is no definitive treatment for Edwards syndrome. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests. […] Delivery room and neonatal intensive care unit management: Previously, trisomy 18 was considered lethal, and resuscitation at birth was not indicated.

• #40 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Edwards syndrome typically results from an extra copy of chromosome 18q. There are 3 types of Edwards syndrome: complete trisomy 18, partial trisomy 18, and mosaic trisomy 18. […] The child with Edwards syndrome should be assessed for growth during each visit, and results should be plotted on specific growth charts. […] Cognitive and motor development should be assessed at each visit, and referral to early intervention, if needed, is recommended. […] An echocardiogram at birth should be performed to evaluate for congenital heart disease and pulmonary hypertension. […] There is no definitive treatment for Edwards syndrome. […] An individualized approach should be considered for each patient, giving the utmost importance to the parental choices in the child’s best interests. […] Delivery room and neonatal intensive care unit management: Previously, trisomy 18 was considered lethal, and resuscitation at birth was not indicated.

• #41 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy18.html

  Parents of a baby with Trisomy 18 face many difficult decisions regarding the care of their child. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Families might choose to have procedures and surgeries to allow their child to live longer with support and improve the child’s quality of life. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. […] No young adults living with Trisomy 18 can live independently. […] Support groups can be found on the internet as well as in some communities for many of the day-to-day caretaking challenges of parents. […] Decision-making for children with chromosomal defects is difficult and complex and parents need information and support from their medical providers and community.

• #42 Trisomy 18 (Edwards Syndrome) Types & Diagnosis | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/trisomy-18-(edwards-syndrome)

  A Cardinal Glennon St. Louis Fetal Care Institute nurse coordinator will serve as your primary contact and will coordinate the care of you and your baby throughout the pregnancy. […] The goal of the Cardinal Glennon St. Louis Fetal Care Institute team is to provide families with the support, information, knowledge and options to make the decision that is best for their baby. […] The team at the Cardinal Glennon St. Louis Fetal Care Institute will help the family develop a plan of care for the pregnancy and immediate newborn period. […] This delivery and care plan can include medical interventions or be restricted to comfort measures, depending on the baby’s medical condition and the desires of the family. […] The pediatric specialists at SSM Health Cardinal Glennon Children’s Hospital remain available to provide the best possible care for every baby with Trisomy 18 from birth and beyond.

• #43 What You Need to Know About Trisomy 18-Edwards Syndrome – Continuum Pediatric Nursing

  https://www.continuum-nursing.com/blog/what-you-need-to-know-about-trisomy-18-edwards-syndrome/

  Trisomy 18, which is also known as Edwards Syndrome, is a rare complex disorder that may be identified in utero. […] The small percentage of children that do survive into adulthood, will need pediatric care and private duty nursing assistance throughout their lives. […] Unfortunately, there is currently no cure for Edwards Syndrome, and treatment consists of supportive, compassionate health care to provide the child with the best possible quality of life. […] Continuum Pediatric Nursing offers home care for children with Trisomy 18. Our dedicated team of RNs, LPNs, schedulers and case managers are committed to offering loving care in the home to ensure your child gets everything they need to be as comfortable and healthy as possible. […] To learn more about the pediatric home care services available for children with Trisomy 18 Edwards Syndrome, contact Continuum Pediatric Nursing today.

• #44 Nursing Care Plan for Trisomy 18 – General Student Support

  https://allnurses.com/nursing-care-plan-trisomy-t322947/

  In recent years, the American Academy of Pediatrics has recommended that infants with confirmed trisomy 13 or 18 should not be resuscitated at birth. This is very tragic because even for the little ones who do not live long, that time is immensely important to the families and leaves a lifelong impact. […] We had a care plan for her – she was on oxygen and used a feeding tube for milk (had to mix a high calorie formula to help her gain weight). […] I found a list of Nanda diagnoses and picked these out. Some of these are brought to mind from a couple of times I cared for infants with T18. […] Interventions will depend on the family medical team’s decision on the aggressiveness of the medical intervention. I feel for all families that are affected by this diagnosis. I understand families making different treatment plan decisions. As a nurse, I support them, inform and educate. I was deeply touched by the love I saw the last time I cared for an infant with this diagnosis. All of us worked very hard to teach the family to provide the oxygen and feeding this little girl needed so she could go home.

• #45 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy18.html

  Parents of a baby with Trisomy 18 face many difficult decisions regarding the care of their child. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Families might choose to have procedures and surgeries to allow their child to live longer with support and improve the child’s quality of life. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. […] No young adults living with Trisomy 18 can live independently. […] Support groups can be found on the internet as well as in some communities for many of the day-to-day caretaking challenges of parents. […] Decision-making for children with chromosomal defects is difficult and complex and parents need information and support from their medical providers and community.

• #46 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Support services within the hospital and in the community should be made available to the family. […] The presence of a disabled child in any family is a source of stress and anxiety. […] Families also undergo a complex grieving process that combines both the reactive grief predominant in chronic illness and the preparatory grief associated with impending death. […] Because of the extremely poor prognosis, surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects may not be considered and should be discussed with parents. […] On the other hand, using the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric database, Bajinting et al reported that excellent outcomes were achieved in patients with trisomy 18 who underwent noncardiac surgery.

• #47 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Support services within the hospital and in the community should be made available to the family. […] The presence of a disabled child in any family is a source of stress and anxiety. […] Families also undergo a complex grieving process that combines both the reactive grief predominant in chronic illness and the preparatory grief associated with impending death. […] Because of the extremely poor prognosis, surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects may not be considered and should be discussed with parents. […] On the other hand, using the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric database, Bajinting et al reported that excellent outcomes were achieved in patients with trisomy 18 who underwent noncardiac surgery.

• #48 Edward’s Syndrome (Trisomy 18) – Care Options for Kids

  https://careoptionsforkids.com/blog/edwards-syndrome

  Taking care of a child with trisomy 18 requires an entire team of individuals. This can include specialists, such as pediatricians, genetic counselors, occupational therapists, physiotherapists, and speech pathologists. […] Depending on the type of trisomy 18, your child may need artificial assistance for breathing and feedings. Talk with their medical providers for options and with your health insurance provider for coverage. […] Your child will need constant monitoring and supportive medical care to improve their quality of life. In addition, all babies born with trisomy 18 will have a learning disability. Therefore, if they make it to school age, they will need support there as well. […] It’s crucial to be aware your child may not live past their first few months or years of life. It’s beneficial to have a good support network, such as family, friends, mental health professionals, and support groups. […] Our dedicated team of pediatric home health care nurses are here to support your family with compassionate, expert care tailored to your child’s needs.

• #49

  https://journals.lww.com/ijcn/fulltext/2019/20010/edwards__syndrome__a_case_study.5.aspx

  Edwards’ syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of extra 18th chromosome. […] It is very challenging and difficult for parents to take care of a child with trisomy 18, so it is important for parents to get support from healthcare providers to provide the best quality of life for the child. […] Nursing management of a baby with trisomy 18 is discussed using a case study and nursing process approach. […] Nursing care is discussed elaborately using nursing process approach. […] There is no definitive treatment for children with trisomy 18. Treatment for trisomy 18 consists of supportive medical care to provide the child with the best quality of life possible. […] Caring for a child with Edwards’ syndrome is mentally and physically challenging. Parents will need social and psychological support.

• #50 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Management of neonates with trisomy 18 is controversial because of poor prognosis and the lack of information about the efficacy of treatment. […] Improved survival (in one study, survival rates at age 1 wk, 1 mo, and 1 y, respectively, were 88%, 83%, and 25%; median survival time, 152.5 d) through NICU treatment (eg, cesarean delivery, resuscitation, respiratory support, and surgical procedures) may help clinicians to offer informed treatment options to families of patients with trisomy 18. […] A survey of US neonatologists regarding newborn care of trisomy 18 infants reported that 44% would provide medical intervention (including resuscitation), primarily because of parental wishes to support the baby. […] During the neonatal period, issues of diagnosis and survival are paramount. Parents need information about the syndrome, including its cause, implications, and possible outcomes.

• #51 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy18.html

  Parents of a baby with Trisomy 18 face many difficult decisions regarding the care of their child. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Families might choose to have procedures and surgeries to allow their child to live longer with support and improve the child’s quality of life. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. […] No young adults living with Trisomy 18 can live independently. […] Support groups can be found on the internet as well as in some communities for many of the day-to-day caretaking challenges of parents. […] Decision-making for children with chromosomal defects is difficult and complex and parents need information and support from their medical providers and community.

• #52 Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18 – PubMed

  https://pubmed.ncbi.nlm.nih.gov/39257320/

  Trisomy 18 syndrome, also known as Edwards syndrome, is the second most common autosomal chromosome syndrome after Down syndrome. Trisomy 18 is a serious medical disorder due to the increased occurrence of structural defects, the high neonatal and infant mortality, and the disabilities observed in older children. […] Knowledge of the parental viewpoints can help clinicians guide families through decision-making. […] We examined the voice and the perspectives of the parents in their challenges in caring for their children with this life-limiting condition. The exploration of the themes can ideally guide clinicians in their approach to the counseling and care of the child in a shared decision-making approach.

• #53 Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18 – PubMed

  https://pubmed.ncbi.nlm.nih.gov/39257320/

  Trisomy 18 syndrome, also known as Edwards syndrome, is the second most common autosomal chromosome syndrome after Down syndrome. Trisomy 18 is a serious medical disorder due to the increased occurrence of structural defects, the high neonatal and infant mortality, and the disabilities observed in older children. […] Knowledge of the parental viewpoints can help clinicians guide families through decision-making. […] We examined the voice and the perspectives of the parents in their challenges in caring for their children with this life-limiting condition. The exploration of the themes can ideally guide clinicians in their approach to the counseling and care of the child in a shared decision-making approach.

• #54 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Support services within the hospital and in the community should be made available to the family. […] The presence of a disabled child in any family is a source of stress and anxiety. […] Families also undergo a complex grieving process that combines both the reactive grief predominant in chronic illness and the preparatory grief associated with impending death. […] Because of the extremely poor prognosis, surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects may not be considered and should be discussed with parents. […] On the other hand, using the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric database, Bajinting et al reported that excellent outcomes were achieved in patients with trisomy 18 who underwent noncardiac surgery.

• #55 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy18.html

  Parents of a baby with Trisomy 18 face many difficult decisions regarding the care of their child. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Families might choose to have procedures and surgeries to allow their child to live longer with support and improve the child’s quality of life. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. […] No young adults living with Trisomy 18 can live independently. […] Support groups can be found on the internet as well as in some communities for many of the day-to-day caretaking challenges of parents. […] Decision-making for children with chromosomal defects is difficult and complex and parents need information and support from their medical providers and community.

• #56 Trisomy 18 (Edwards Syndrome): Symptoms, Causes, Diagnosis

  https://www.webmd.com/baby/what-is-trisomy-18

  Trisomy 18 is a condition caused by a problem in your chromosomes. It’s also called Edwards syndrome, after the doctor who first described it. […] Treatment for trisomy 18 consists of supportive medical care to provide the child with the best quality of life possible. This might include: […] At one time, babies born with trisomy 18 were not resuscitated at birth because their long-term chances of survival were so low. Now, guidelines have changed, and reviving infants with trisomy 18 is more likely to be done. […] Having a child with trisomy 18 can sometimes be emotionally overwhelming, and it’s important for parents to get support during this difficult time. Organizations such as the Chromosome 18 Registry Research Society and the Trisomy 18 Foundation can help. […] Life expectancy is usually a year or less.

• #57 Understanding Edwards Syndrome – Upbility Publications

  https://upbility.net/blogs/news/understanding-edwards-syndrome?srsltid=AfmBOoqIWP5KVmmAz-B0ojciZUwm1ctYiU6fKrOlR-Y2Rf_OgY-uIjE3

  Palliative care plays a significant role in managing Edwards Syndrome. It focuses on providing comfort and improving the quality of life for children with the syndrome. Palliative care services can include therapies, treatments, and surgeries to improve the quality of care. […] Support resources for families dealing with Edwards Syndrome include genetic counseling, support groups, and community services. These resources can provide families with much-needed emotional support, guidance, and a sense of community.

• #58 Home | Trisomy 18 Foundation

  https://trisomy18.org/

  Trisomy 18 is a life-threatening disorder that impacts about 1 out of every 2000 pregnancies in the U.S. The Trisomy 18 Foundation helps to improve the lives of the children and families impacted by Trisomy 18 by providing support and connecting families, advocating for compassionate, supportive care, and advancing research into the future of Trisomy 18. […] Learning that your child has a Trisomy 18 diagnosis can be overwhelming and scary. Whether you’re a parent of a child with Trisomy 18 or a family member or loved one, you face an uncertain future and have many, many questions. The Trisomy 18 Foundation is here to help you get the resources and answers you need to understand your child’s diagnosis and make informed decisions about their health. […] Patients facing a prenatal or postnatal diagnosis of trisomy 18 for their child are undergoing an emotional and fraught experience, and the right support from their health care providers can make a world of difference. We know you want to support your patients and help them make informed decisions about their child’s health. We can help.

• #59 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. […] The growth delay starts in prenatal period and continues after the birth, and most of the time is associated with feeding problems that may require enteral nutrition. […] Most of the children have feeding difficulties that often require tube feeding in the neonatal period or placement of gastrostomy in the older children (at average age of 8 months). […] Gastroesophageal reflux is a significant medical problem because of both its high prevalence and its potential consequences, like irritability, recurrent pneumonia and aspiration. […] The key ingredient in carrying out effective health supervision in the care of infants and children with trisomy 18 is a committed primary care practitioner. As pointed out by Carey a clinician who is willing to oversee the care and provide ongoing support to the family should not be hesitant to take on the challenge of shepherding the management of a child with this disorder (despite its relative rareness) and providing the Medical Home for the children.

• #60 SSA – POMS: DI 23022.390 – Edwards Syndrome (Trisomy 18) – 12/27/2023

  https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022390

  Edwards syndrome is a genetic disorder in which a person has an extra third copy (trisomy) of genetic material from chromosome 18, instead of the usual two copies. This chromosomal condition causes severe intellectual disability and congenital abnormalities. It severely affects all organ systems of the body. Children born with Edwards syndrome often have intellectual disability and delayed development, congenital heart disease, seizures, and physical malformations. […] Treatment of Edwards syndrome consists of symptomatic and supportive care. Treatment is dependent on the medical condition of the individual and the affected organ defects. […] Fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.

• #61 Trisomy 18 | Causes, Types, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/trisomy-18

  Trisomy 18 is a serious genetic condition. It is also sometimes called Edward syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 18 will have the same differences or challenges. Some common things that can be caused by trisomy 18 include: […] Trisomy 18 also causes challenges after birth, such as: […] There are no treatments or cures for the extra chromosome that causes trisomy 18. Treatment for babies and children with trisomy 18 is focused on the symptoms they have. […] After learning about the diagnosis of trisomy 18, families can choose to continue or to end their pregnancy. […] For those who continue the pregnancy, parents often consider what quality of life means to them and what treatment options would best support this. Some of these treatments might include surgeries, medicines, breathing machines, and feeding tubes. But the symptoms and treatments might be difficult. Some families choose to focus on treatments that will keep the baby comfortable, instead of treatments to extend their life. This is called comfort care. […] All babies with trisomy 18 have developmental delays and intellectual disability; they may not learn how to do things that typical children do, such as walk and talk. Children with trisomy 18 will require special care for their entire lives.

• #62 Trisomy 18 | Causes, Types, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/trisomy-18

  Trisomy 18 is a serious genetic condition. It is also sometimes called Edward syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 18 will have the same differences or challenges. Some common things that can be caused by trisomy 18 include: […] Trisomy 18 also causes challenges after birth, such as: […] There are no treatments or cures for the extra chromosome that causes trisomy 18. Treatment for babies and children with trisomy 18 is focused on the symptoms they have. […] After learning about the diagnosis of trisomy 18, families can choose to continue or to end their pregnancy. […] For those who continue the pregnancy, parents often consider what quality of life means to them and what treatment options would best support this. Some of these treatments might include surgeries, medicines, breathing machines, and feeding tubes. But the symptoms and treatments might be difficult. Some families choose to focus on treatments that will keep the baby comfortable, instead of treatments to extend their life. This is called comfort care. […] All babies with trisomy 18 have developmental delays and intellectual disability; they may not learn how to do things that typical children do, such as walk and talk. Children with trisomy 18 will require special care for their entire lives.

• #63 Edwards’ syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/

  If your baby is affected by Edwards syndrome, it is likely they will have associated health conditions (other conditions often found in babies with Edwards syndrome). Some of these may be serious. Exactly how your baby is affected will depend on the form of Edwards syndrome they have. […] Babies with full form Edwards syndrome usually have a low birthweight and are considered medically fragile. This means they are at high risk of infections and complications that require treatment in hospital. They may also: have difficulty feeding and may need fed by a tube; have difficulty breathing and have apnoea (pauses in their breathing). […] Despite their complex needs, children with Edwards syndrome can make progress with their development, although slowly. Many children are reported to be able to communicate their needs, show awareness of surroundings, and some can sit and stand supported. There are also cases of older children attending school. […] Feedback from many parents suggests that children with Edwards syndrome have a good quality of life and are valued members of the family.

• #64 Edwards’ syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/

  If your baby is affected by Edwards syndrome, it is likely they will have associated health conditions (other conditions often found in babies with Edwards syndrome). Some of these may be serious. Exactly how your baby is affected will depend on the form of Edwards syndrome they have. […] Babies with full form Edwards syndrome usually have a low birthweight and are considered medically fragile. This means they are at high risk of infections and complications that require treatment in hospital. They may also: have difficulty feeding and may need fed by a tube; have difficulty breathing and have apnoea (pauses in their breathing). […] Despite their complex needs, children with Edwards syndrome can make progress with their development, although slowly. Many children are reported to be able to communicate their needs, show awareness of surroundings, and some can sit and stand supported. There are also cases of older children attending school. […] Feedback from many parents suggests that children with Edwards syndrome have a good quality of life and are valued members of the family.

• #65 What is Edwards syndrome or trisomy 18?

  https://raisingchildren.net.au/guides/a-z-health-reference/trisomy-18

  Some children with mosaic Edwards syndrome live to adulthood. If your child has mosaic Edwards syndrome, early intervention is the best way to support your childs development. Early intervention includes therapies, education and other supports that will help your child reach their full potential. […] If your baby is diagnosed with Edwards syndrome before or after birth, the following professionals might be able to help you: clinical geneticist, occupational therapist, paediatrician or neonatologist, palliative care specialist, physiotherapist, social worker, speech pathologist.

• #66 What is Edwards syndrome or trisomy 18?

  https://raisingchildren.net.au/guides/a-z-health-reference/trisomy-18

  Some children with mosaic Edwards syndrome live to adulthood. If your child has mosaic Edwards syndrome, early intervention is the best way to support your childs development. Early intervention includes therapies, education and other supports that will help your child reach their full potential. […] If your baby is diagnosed with Edwards syndrome before or after birth, the following professionals might be able to help you: clinical geneticist, occupational therapist, paediatrician or neonatologist, palliative care specialist, physiotherapist, social worker, speech pathologist.

• #67 Understanding Edwards Syndrome – Upbility Publications

  https://upbility.net/blogs/news/understanding-edwards-syndrome?srsltid=AfmBOoqIWP5KVmmAz-B0ojciZUwm1ctYiU6fKrOlR-Y2Rf_OgY-uIjE3

  Edwards Syndrome, also known as Trisomy 18, is a life-altering genetic condition that deeply touches the lives of those affected and their families. […] Management strategies include medical treatments/interventions to address health issues, palliative care for comfort, support resources such as counseling groups to provide guidance, informed decision making on treatment options balancing quality of life considerations, prevention initiatives including maternal age screening environmental factors assessment. […] The management of Edwards Syndrome requires a multifaceted approach, incorporating medical treatments, palliative care, and supportive resources. These support structures aim to improve the child’s quality of life and equip families to handle the challenges of the condition. […] Medical interventions for Edwards Syndrome may include the use of feeding tubes, supportive treatments such as physiotherapy and occupational therapy, and surgeries to correct heart defects.

• #68 Understanding Edwards Syndrome – Upbility Publications

  https://upbility.net/blogs/news/understanding-edwards-syndrome?srsltid=AfmBOoqIWP5KVmmAz-B0ojciZUwm1ctYiU6fKrOlR-Y2Rf_OgY-uIjE3

  Palliative care plays a significant role in managing Edwards Syndrome. It focuses on providing comfort and improving the quality of life for children with the syndrome. Palliative care services can include therapies, treatments, and surgeries to improve the quality of care. […] Support resources for families dealing with Edwards Syndrome include genetic counseling, support groups, and community services. These resources can provide families with much-needed emotional support, guidance, and a sense of community.

• #69 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Cytogenetic studies and chromosomal analysis will confirm the diagnosis. […] There are ethical issues surrounding the care and management of infants and children with Edwards’ syndrome. There is general agreement that management decisions should focus on the best interest of the child and pay due respect to parental opinion. A collaborative approach with openness among team members is recommended and guidelines for management in the neonatal unit have been proposed. […] Treatment of a liveborn infant is generally supportive but life-sustaining measures are not always carried out. Considerable thought and discussion are recommended before undertaking measures such as surgical correction of abnormalities. Ideally a full informed discussion with parents, undertaken before the birth of the child, should inform management.

• #70 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Cytogenetic studies and chromosomal analysis will confirm the diagnosis. […] There are ethical issues surrounding the care and management of infants and children with Edwards’ syndrome. There is general agreement that management decisions should focus on the best interest of the child and pay due respect to parental opinion. A collaborative approach with openness among team members is recommended and guidelines for management in the neonatal unit have been proposed. […] Treatment of a liveborn infant is generally supportive but life-sustaining measures are not always carried out. Considerable thought and discussion are recommended before undertaking measures such as surgical correction of abnormalities. Ideally a full informed discussion with parents, undertaken before the birth of the child, should inform management.

• #71 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Cytogenetic studies and chromosomal analysis will confirm the diagnosis. […] There are ethical issues surrounding the care and management of infants and children with Edwards’ syndrome. There is general agreement that management decisions should focus on the best interest of the child and pay due respect to parental opinion. A collaborative approach with openness among team members is recommended and guidelines for management in the neonatal unit have been proposed. […] Treatment of a liveborn infant is generally supportive but life-sustaining measures are not always carried out. Considerable thought and discussion are recommended before undertaking measures such as surgical correction of abnormalities. Ideally a full informed discussion with parents, undertaken before the birth of the child, should inform management.

• #72 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Support services within the hospital and in the community should be made available to the family. […] The presence of a disabled child in any family is a source of stress and anxiety. […] Families also undergo a complex grieving process that combines both the reactive grief predominant in chronic illness and the preparatory grief associated with impending death. […] Because of the extremely poor prognosis, surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects may not be considered and should be discussed with parents. […] On the other hand, using the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric database, Bajinting et al reported that excellent outcomes were achieved in patients with trisomy 18 who underwent noncardiac surgery.

• #73 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Support services within the hospital and in the community should be made available to the family. […] The presence of a disabled child in any family is a source of stress and anxiety. […] Families also undergo a complex grieving process that combines both the reactive grief predominant in chronic illness and the preparatory grief associated with impending death. […] Because of the extremely poor prognosis, surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects may not be considered and should be discussed with parents. […] On the other hand, using the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric database, Bajinting et al reported that excellent outcomes were achieved in patients with trisomy 18 who underwent noncardiac surgery.

• #74 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Cytogenetic studies and chromosomal analysis will confirm the diagnosis. […] There are ethical issues surrounding the care and management of infants and children with Edwards’ syndrome. There is general agreement that management decisions should focus on the best interest of the child and pay due respect to parental opinion. A collaborative approach with openness among team members is recommended and guidelines for management in the neonatal unit have been proposed. […] Treatment of a liveborn infant is generally supportive but life-sustaining measures are not always carried out. Considerable thought and discussion are recommended before undertaking measures such as surgical correction of abnormalities. Ideally a full informed discussion with parents, undertaken before the birth of the child, should inform management.

• #75 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Cytogenetic studies and chromosomal analysis will confirm the diagnosis. […] There are ethical issues surrounding the care and management of infants and children with Edwards’ syndrome. There is general agreement that management decisions should focus on the best interest of the child and pay due respect to parental opinion. A collaborative approach with openness among team members is recommended and guidelines for management in the neonatal unit have been proposed. […] Treatment of a liveborn infant is generally supportive but life-sustaining measures are not always carried out. Considerable thought and discussion are recommended before undertaking measures such as surgical correction of abnormalities. Ideally a full informed discussion with parents, undertaken before the birth of the child, should inform management.

• #76 Nursing Care Plan for Trisomy 18 – General Student Support

  https://allnurses.com/nursing-care-plan-trisomy-t322947/

  In recent years, the American Academy of Pediatrics has recommended that infants with confirmed trisomy 13 or 18 should not be resuscitated at birth. This is very tragic because even for the little ones who do not live long, that time is immensely important to the families and leaves a lifelong impact. […] We had a care plan for her – she was on oxygen and used a feeding tube for milk (had to mix a high calorie formula to help her gain weight). […] I found a list of Nanda diagnoses and picked these out. Some of these are brought to mind from a couple of times I cared for infants with T18. […] Interventions will depend on the family medical team’s decision on the aggressiveness of the medical intervention. I feel for all families that are affected by this diagnosis. I understand families making different treatment plan decisions. As a nurse, I support them, inform and educate. I was deeply touched by the love I saw the last time I cared for an infant with this diagnosis. All of us worked very hard to teach the family to provide the oxygen and feeding this little girl needed so she could go home.

• #77 Trisomy 18 (Edwards Syndrome): Symptoms, Life Expectancy & Treatment

  https://www.medicinenet.com/trisomy_18_edwards_syndrome/article.htm

  In addition there is an increasing approach to management which is moving away from pure palliative care into optimizing quality of life. This is due to the increasing evidence that a collaborative model of decision making involving parents and providers is a better way to approach the child with Edwards syndrome.

• #78 Trisomy 18 (Edwards Syndrome): Symptoms, Life Expectancy & Treatment

  https://www.medicinenet.com/trisomy_18_edwards_syndrome/article.htm

  In addition there is an increasing approach to management which is moving away from pure palliative care into optimizing quality of life. This is due to the increasing evidence that a collaborative model of decision making involving parents and providers is a better way to approach the child with Edwards syndrome.

• #79 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following: […] Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18. […] In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect-related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect-related death; and initial palliative surgery was associated with longer survival than intracardiac repair.

• #80 Trisomy 18 Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/943463-treatment

  Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following: […] Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18. […] In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect-related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect-related death; and initial palliative surgery was associated with longer survival than intracardiac repair.

• #81

  https://journals.lww.com/ijcn/fulltext/2019/20010/edwards__syndrome__a_case_study.5.aspx

  Edwards’ syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of extra 18th chromosome. […] It is very challenging and difficult for parents to take care of a child with trisomy 18, so it is important for parents to get support from healthcare providers to provide the best quality of life for the child. […] Nursing management of a baby with trisomy 18 is discussed using a case study and nursing process approach. […] Nursing care is discussed elaborately using nursing process approach. […] There is no definitive treatment for children with trisomy 18. Treatment for trisomy 18 consists of supportive medical care to provide the child with the best quality of life possible. […] Caring for a child with Edwards’ syndrome is mentally and physically challenging. Parents will need social and psychological support.

• #82 Edwards’ syndrome (trisomy 18)

  https://www.nhs.uk/conditions/edwards-syndrome/

  Edwards’ syndrome is a rare genetic condition that cannot currently be cured. […] Most babies with full Edwards syndrome (full trisomy 18) die before or shortly after being born. […] There’s currently no cure for Edwards’ syndrome, but there are treatments and support to help children and adults with the condition have the best possible quality of life. […] A range of healthcare professionals may be involved in your child’s care. They’ll help to create a care plan and advise you about which treatments are suitable for your child’s specific needs. Treatment and support may include regular monitoring and treatment (including surgery) for heart problems, breathing problems and digestive issues, physiotherapy, occupational therapy and speech therapy, pain control and palliative care for more severe symptoms. […] If your child has Edwards’ syndrome, healthcare professionals will be there to support you. […] You may also find it helpful to get support from other people with Edwards’ syndrome, or parents of children with Edwards’ syndrome.

• #83 What You Need to Know About Trisomy 18-Edwards Syndrome – Continuum Pediatric Nursing

  https://www.continuum-nursing.com/blog/what-you-need-to-know-about-trisomy-18-edwards-syndrome/

  Trisomy 18, which is also known as Edwards Syndrome, is a rare complex disorder that may be identified in utero. […] The small percentage of children that do survive into adulthood, will need pediatric care and private duty nursing assistance throughout their lives. […] Unfortunately, there is currently no cure for Edwards Syndrome, and treatment consists of supportive, compassionate health care to provide the child with the best possible quality of life. […] Continuum Pediatric Nursing offers home care for children with Trisomy 18. Our dedicated team of RNs, LPNs, schedulers and case managers are committed to offering loving care in the home to ensure your child gets everything they need to be as comfortable and healthy as possible. […] To learn more about the pediatric home care services available for children with Trisomy 18 Edwards Syndrome, contact Continuum Pediatric Nursing today.

• #84 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. […] The growth delay starts in prenatal period and continues after the birth, and most of the time is associated with feeding problems that may require enteral nutrition. […] Most of the children have feeding difficulties that often require tube feeding in the neonatal period or placement of gastrostomy in the older children (at average age of 8 months). […] Gastroesophageal reflux is a significant medical problem because of both its high prevalence and its potential consequences, like irritability, recurrent pneumonia and aspiration. […] The key ingredient in carrying out effective health supervision in the care of infants and children with trisomy 18 is a committed primary care practitioner. As pointed out by Carey a clinician who is willing to oversee the care and provide ongoing support to the family should not be hesitant to take on the challenge of shepherding the management of a child with this disorder (despite its relative rareness) and providing the Medical Home for the children.

• #85 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. […] The growth delay starts in prenatal period and continues after the birth, and most of the time is associated with feeding problems that may require enteral nutrition. […] Most of the children have feeding difficulties that often require tube feeding in the neonatal period or placement of gastrostomy in the older children (at average age of 8 months). […] Gastroesophageal reflux is a significant medical problem because of both its high prevalence and its potential consequences, like irritability, recurrent pneumonia and aspiration. […] The key ingredient in carrying out effective health supervision in the care of infants and children with trisomy 18 is a committed primary care practitioner. As pointed out by Carey a clinician who is willing to oversee the care and provide ongoing support to the family should not be hesitant to take on the challenge of shepherding the management of a child with this disorder (despite its relative rareness) and providing the Medical Home for the children.

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