Materiały źródłowe

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

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

  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. The major causes of sudden death in Edwards syndrome are neurological instability, cardiac failure, and respiratory failure. 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. The American Academy of Pediatrics and the recent Neonatal Resuscitation Program guidelines no longer advocate withholding active management, including resuscitative efforts in the delivery room.

• #1 Edwards’ syndrome (trisomy 18)

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

  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.

• #1 What is Edwards syndrome or trisomy 18?

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

  Theres no cure for Edwards syndrome. […] When babies are born with Edwards syndrome, there are often very sad and difficult decisions and choices to be made. This might include a choice between making a baby comfortable and prolonging life through invasive surgery. […] 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.

• #1 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. […] Cardiac management is perhaps the most important decision parents have to make. […] 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.

• #1 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 retrospective study by Nakai et al indicated that cardiac surgery can prolong survival in trisomy-18 patients who have high pulmonary blood flow. The study involved 20 patients, including 10 who underwent cardiac surgery with pulmonary artery banding and 10 who were treated conservatively; the surgical patients survived for a significantly longer period (495 days) than did the conservative management group (93.1 days).

• #1 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. Gastroesophageal reflux can be initially managed with medical therapy and later with surgical options if refractory. […] Cardiac management: Diuretics and digoxin are used for heart failure. Palliative and corrective cardiac surgery is recommended for complex congenital heart defects. […] Infections: The standard approach to treating respiratory infections, pneumonia, urinary tract infections, and otitis media is recommended. […] Orthopedic management may be required, particularly for scoliosis due to hemivertebra. […] Psychiatric management: The family should receive psychosocial support, including information on support organizations.

• #1

  https://111.wales.nhs.uk/encyclopaedia/e/article/edwardssyndrome(trisomy18)

  Edwards’ syndrome, also known as trisomy 18, is a rare but serious condition. […] There is no cure for Edwards’ syndrome. […] Treatment will focus on the symptoms of the condition, such as heart conditions, breathing difficulties and infections. […] Your baby may also need to be fed through a feeding tube, as they can often have difficulty feeding. […] Edwards’ syndrome has an impact on your baby’s movements as they get older, and they may benefit from supportive treatment, such as physiotherapy and occupational therapy. […] Depending on your baby’s specific problems, they may need specialist care in hospital or a hospice, or you may be able to look after them at home with the right support.

• #1 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. […] 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. […] 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.

• #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 (Edwards syndrome) therapy may involve: […] 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. […] However, depending on the severity of their diagnosis, each kid with Edwards syndrome (trisomy 18) has a different course of treatment. Trisomy 18 or Edwards syndrome is incurable.

• #1 Trisomy 18 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-18

  Treatment of Trisomy 18 is supportive care. […] The underlying genetic abnormality cannot be cured. […] Children with trisomy 18 have marked developmental delay and disability, so there is controversy about doing multiple, invasive procedures to correct various associated anomalies. […] Early referral for physical and speech therapy is important. Support for the family is critical. […] Treatment of some of the associated anomalies has increased survival for certain people with trisomy 18, which has led to recognition of an increased risk of solid organ tumors (eg, hepatoblastoma, Wilms tumor). […] Because early recognition of these tumors and other anomalies is important for successful treatment (if desired), regular surveillance is recommended. […] If screening detects abnormalities, children should be referred to the appropriate specialists.

• #1 Trisomy 18: Diagnosis, Causes, Prognosis, and More

  https://www.healthline.com/health/childrens-health/trisomy-18

  There is no cure for trisomy 18. Since babies with this condition tend to have multiple health issues, youll work with a team of doctors to create a customized treatment plan. In more severe cases, some families favor palliative care or hospice care. […] Treatments are more about making a child comfortable or correcting the issues that affect an individual child. For example, surgery may be an option to treat things like: heart defects, kidney issues, head or face irregularities. […] As a child grows, they may need support academically and physically. Early intervention and special education programs can help fill these gaps.

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

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

  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. These decisions are personal and each family’s decision is unique. Both are decisions made by loving parents. 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.

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

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

  What is the treatment for trisomy 18? The treatment and management of children with Edwards syndrome is dependent upon the severity of findings. There is no definitive treatment for children with trisomy 18, and there are ethical issues surrounding the management of these newborns due to the high mortality rate and difficulty in predicting which infants will live beyond their first year of life. The major cause of death in many of these infants is sudden death due to neurological instability, cardiac failure, and respiratory failure. For those infants diagnosed with incomplete trisomy 18 or mosaic trisomy 18, management is focused on addressing abnormalities present since they have such a variable prognosis. […] There are great support groups such as the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) and the Trisomy 18 Foundation for parents and providers seeking guidance. 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.

• #1 Researchers | Trisomy 18 Foundation

  https://trisomy18.org/researchers/

  Research is critical to creating a brighter future for children with Trisomy 18 syndrome and other related disorders. […] Research into advanced treatment options for children born with Trisomy 18, such as corrective surgeries, therapies and other forms of care, can also help reduce or eliminate life-threatening and quality of life challenges that children with Trisomy 18 face so that they can live longer, healthier lives. […] That’s why the Trisomy 18 Foundation is committed to providing grants to researchers with the goal of understanding the cause of Trisomy 18 and developing new ways to treat the condition. […] We are here as a resource for you, whether you are a researcher or clinical scientist conducting research to understand the impact of Trisomy 18 on fetal development or to find therapies and treatment options to improve the outcomes for children born with the condition.

• #1 Trisomy 18: Practice Essentials, Pathophysiology, Epidemiology

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

  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. Cardiac management is primarily medical. […] 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. […] A retrospective Japanese study by Tamaki et al found that patients with trisomy 18 who were born between 2013 and 2017 (late period [LP] patients) had significantly better 1-year survival rates and survival-to-discharge rates than did those born between 2008 and 2012 (early period [EP] patients). The investigators suggested that these changes may have resulted because surgical intervention rates in trisomy 18 rose significantly, particularly for congenital heart defects. Collecting data from a single pediatric tertiary referral center, the study looked at patients admitted to the center within the first 7 days following birth. The investigators found the 1-year survival rates in the EP and LP groups to be 34.5% and 59.3%, respectively, while the survival-to-discharge rates were 27.6% and 81.5%, respectively. The surgical intervention rates in the EP and LP groups were 59% and 96%, respectively.

• #1 Prolonged survival in Edwards syndrome with congenital heart disease: a case report and literature review – Medwave

  https://www.medwave.cl/puestadia/casos/8015.html?lang=en

  Patients with trisomy 18 are more likely to survive if they undergo cardiac surgery. […] In this patient, performing any cardiac procedure or surgery was not recommended due to the poor prognosis, considering the risk-benefit as well as the ethical aspects and the informed consent. […] The comprehensive approach to these patients requires intervention with various medical specialties.

• #2 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. […] Cardiac management is perhaps the most important decision parents have to make. […] 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.

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

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

  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. The Textbook of Neonatal Resuscitation has removed trisomy 18 from the list of diagnoses that it considers ethical to not resuscitate at birth. […] There is no cure for trisomy 18.

• #2 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.

• #2 Trisomy 18 (Edwards Syndrome) | Supporting Learning For Children With Needs

  https://slcn.com.au/trisomy-18-edwards-syndrome/

  What therapy and support is available for children with Trisomy 18? […] The National Disability Insurance Scheme (NDIS) might support your child with trisomy 18, as well as you and your family. Our guide has answers to your questions about the NDIS. […] If your baby is diagnosed with trisomy 18, or Edwards syndrome, before or after birth, the following professionals might be able to help you: clinical geneticist, genetic counsellor, GP, midwife, obstetrician, occupational therapist, paediatrician, physiotherapist, speech pathologist.

• #2 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. Gastroesophageal reflux can be initially managed with medical therapy and later with surgical options if refractory. […] Cardiac management: Diuretics and digoxin are used for heart failure. Palliative and corrective cardiac surgery is recommended for complex congenital heart defects. […] Infections: The standard approach to treating respiratory infections, pneumonia, urinary tract infections, and otitis media is recommended. […] Orthopedic management may be required, particularly for scoliosis due to hemivertebra. […] Psychiatric management: The family should receive psychosocial support, including information on support organizations.

• #2 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. […] 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. […] 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.

• #2 Prolonged survival in Edwards syndrome with congenital heart disease: a case report and literature review – Medwave

  https://www.medwave.cl/puestadia/casos/8015.html?lang=en

  Patients with trisomy 18 are more likely to survive if they undergo cardiac surgery. […] In this patient, performing any cardiac procedure or surgery was not recommended due to the poor prognosis, considering the risk-benefit as well as the ethical aspects and the informed consent. […] The comprehensive approach to these patients requires intervention with various medical specialties.

• #2 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 (Edwards syndrome) therapy may involve: […] 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. […] However, depending on the severity of their diagnosis, each kid with Edwards syndrome (trisomy 18) has a different course of treatment. Trisomy 18 or Edwards syndrome is incurable.

• #2 EDWARDS SYNDROME (TRISOMY 18)

  https://medicover-genetics.com/product/edwards-syndrome/

  Treatment for Trisomy 18 is tailored to the individuals specific symptoms and may include: […] Nasogastric tube feeding […] Gastrostomy […] Oxygen therapy […] Surgical corrections […] Early imaging and examinations for malignancies.

• #2 Trisomy 18: Practice Essentials, Pathophysiology, Epidemiology

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

  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. Cardiac management is primarily medical. […] 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. […] A retrospective Japanese study by Tamaki et al found that patients with trisomy 18 who were born between 2013 and 2017 (late period [LP] patients) had significantly better 1-year survival rates and survival-to-discharge rates than did those born between 2008 and 2012 (early period [EP] patients). The investigators suggested that these changes may have resulted because surgical intervention rates in trisomy 18 rose significantly, particularly for congenital heart defects. Collecting data from a single pediatric tertiary referral center, the study looked at patients admitted to the center within the first 7 days following birth. The investigators found the 1-year survival rates in the EP and LP groups to be 34.5% and 59.3%, respectively, while the survival-to-discharge rates were 27.6% and 81.5%, respectively. The surgical intervention rates in the EP and LP groups were 59% and 96%, respectively.

• #2 Edwards syndrome: Definition, causes, and symptoms

  https://www.medicalnewstoday.com/articles/what-chromosomes-are-affected-by-edwards-syndrome

  Currently, there is no effective long-term treatment for infants with Edwards Syndrome. Many infants with Edwards syndrome may not survive. In other cases, a doctor may consider an individualized approach depending on which symptoms of the condition are present. This could include: […] delivery room and neonatal intensive care unit management […] specialist care […] feeding management […] cardiac management […] orthopedic management […] psychiatric management […] treating infections […] physical therapy.

• #2 Trisomy 18 – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/trisomy-18

  There is no cure for trisomy 18. […] Children with trisomy 18 have severe developmental delay and disability. They should receive physical and speech therapies starting early. It is recommended that family members seek support. […] Treatment of some of the abnormalities caused by trisomy 18 has resulted in some people living longer. These people are at increased risk of developing certain tumors, such as in the liver (hepatoblastoma) and kidneys (Wilms tumor). To help detect these tumors and other complications, doctors may recommend that children have periodic blood tests and imaging studies such as ultrasonography of the abdomen and kidneys.

• #2 What is Edwards syndrome or trisomy 18?

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

  Theres no cure for Edwards syndrome. […] When babies are born with Edwards syndrome, there are often very sad and difficult decisions and choices to be made. This might include a choice between making a baby comfortable and prolonging life through invasive surgery. […] 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.

• #2 Trisomy 18 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-18

  Treatment of Trisomy 18 is supportive care. […] The underlying genetic abnormality cannot be cured. […] Children with trisomy 18 have marked developmental delay and disability, so there is controversy about doing multiple, invasive procedures to correct various associated anomalies. […] Early referral for physical and speech therapy is important. Support for the family is critical. […] Treatment of some of the associated anomalies has increased survival for certain people with trisomy 18, which has led to recognition of an increased risk of solid organ tumors (eg, hepatoblastoma, Wilms tumor). […] Because early recognition of these tumors and other anomalies is important for successful treatment (if desired), regular surveillance is recommended. […] If screening detects abnormalities, children should be referred to the appropriate specialists.

• #2 Edwards syndrome – symptoms, treatments and causes | healthdirect

  https://www.healthdirect.gov.au/edwards-syndrome-trisomy-18

  Edwards syndrome is a genetic condition that causes serious health problems and disabilities. It’s caused by an extra copy of chromosome 18. […] There is no cure for babies with Edwards syndrome. Unfortunately, it’s rare for a baby with full Edwards syndrome to survive their first year of life. […] Babies with Edwards syndrome may need treatment in the neonatal intensive care unit. Palliative care treatment may be offered for some babies and children with this condition. […] Specific treatment for Edwards syndrome focusses on health conditions, such as: heart problems, breathing problems, infections.

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

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

  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. These decisions are personal and each family’s decision is unique. Both are decisions made by loving parents. 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.

• #2 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. Some parents of severely affected infants elect to give comfort care and take their baby home to provide the best and most comfortable circumstances possible. […] 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. However, this is very rarely an option, because of the severity of the baby’s heart defects and other malformations throughout their body. 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.

• #2 Understanding Edwards Syndrome – Upbility Publications

  https://upbility.net/blogs/news/understanding-edwards-syndrome?srsltid=AfmBOoqsacAmcusUFYTr10VT0DkDm8zOD2bPOJEPwOKSs9sPRiJIk0Yb

  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. […] While there is currently no cure for Edwards Syndrome, the ongoing research offers hope for future advancements in treatment options and care. […] Current research and future directions include exploring new treatment options, understanding the underlying causes of Edwards Syndrome, and improving the quality of life for affected individuals.

• #2 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. […] 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. […] Advancing Research Research is critical to creating a brighter future for children with Trisomy 18 syndrome and related disorders. The Trisomy 18 Foundation is committed to funding research that seeks to reduce or eliminate life-threatening and quality of life challenges facing patients with Trisomy 18. We also share research study opportunities with our Trisomy 18 syndrome community to further research into the treatment and care of those impacted by the disorder. […] Together, we can advance treatment options for Trisomy 18 and offer hope for our children’s futures.

• #2 Surgery for a Child with Trisomy 18 – Research Horizons

  https://scienceblog.cincinnatichildrens.org/surgery-for-a-child-with-trisomy-18/

  “If surgery can provide a meaningful improvement in quality of life, and the family fully understands the burdens they are choosing for their child and themselves, we will honor their decision.” […] Before doing the operation, the family met with physicians and other care team members who discussed, in detail, the challenges that Thessa would face even if the surgery was a success. […] Cincinnati gave our family hope of being able to get reunited by offering a full heart repair and all other interventions that Thessa needs so she can be well to come home and meet her family. […] While improved technologies are addressing more of the symptoms of children with trisomy 18, a cure appears a long way off. […] But Cooper remains hopeful longer-term for this and other genetic disorders.

• #2 Researchers | Trisomy 18 Foundation

  https://trisomy18.org/researchers/

  Research is critical to creating a brighter future for children with Trisomy 18 syndrome and other related disorders. […] Research into advanced treatment options for children born with Trisomy 18, such as corrective surgeries, therapies and other forms of care, can also help reduce or eliminate life-threatening and quality of life challenges that children with Trisomy 18 face so that they can live longer, healthier lives. […] That’s why the Trisomy 18 Foundation is committed to providing grants to researchers with the goal of understanding the cause of Trisomy 18 and developing new ways to treat the condition. […] We are here as a resource for you, whether you are a researcher or clinical scientist conducting research to understand the impact of Trisomy 18 on fetal development or to find therapies and treatment options to improve the outcomes for children born with the condition.

• #3 Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome

  https://www.mdpi.com/2073-4425/15/4/463

  It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have life-threatening cardiac or other severe defects. […] Due to the prematurity of our patient and the defects associated with Edwards syndrome, the child requires constant multidisciplinary care, but Edwards syndrome itself is not a reason to discontinue therapy for a malignant neoplasm of the liver. […] Regular abdominal ultrasound examination, along with regular testing of AFP levels, may be helpful in the early detection of liver tumors in children with Edwards syndrome.

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