Materiały źródłowe

• #1 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] This activity describes the evaluation and management of Patau syndrome and reviews the role of the interprofessional team in improving care for patients with this condition. […] Outline the importance of improving care coordination among the interprofessional team to enhance the delivery of care by counseling the family on the poor prognosis of Patau syndrome so they can make informed decisions about its management. […] Intensive treatment of Patau syndrome is controversial due to the universally poor prognosis of patients despite treatment. […] At delivery, infants diagnosed with Patau syndrome may need post-delivery oxygenation and ventilation; this may require intubation or tracheostomy due to facial defects.

• #2 The Genetic Mechanisms and Therapeutic Interventions of Patau Syn

  https://www.longdom.org/open-access/the-genetic-mechanisms-and-therapeutic-interventions-of-patau-syndrome-a-chromosomal-syndrome-105847.html

  Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the presence of an extra copy of chromosome 13. This additional genetic material disrupts normal development and leads to a wide range of physical and intellectual disabilities. […] Patau syndrome is associated with a range of physical and intellectual disabilities, and the severity of symptoms can vary widely among affected individuals. Common physical features include facial abnormalities such as cleft lip and palate, small or malformed eyes, and extra fingers or toes. Additionally, individuals with Patau syndrome may experience heart defects, kidney malformations, and problems with other internal organs. […] Cognitive development is significantly affected in individuals with Patau syndrome. Intellectual disabilities are common, and most affected individuals experience developmental delays. Severe learning difficulties and challenges in acquiring motor skills are typical, requiring specialized care and support throughout their lives.

• #3 Patau’s syndrome – Ambar Lab

  https://ambar-lab.com/en/pataus-syndrome/

  Patau syndrome is a genetic disease caused by the presence of a total trisomy (a whole chromosome) or partial trisomy of chromosome 13. […] Medical care is necessary from the birth of the baby and should be followed up. […] Patau syndrome is caused by the existence of three copies of chromosome 13 in the karyotype. Hence, this genetic anomaly is also known as pair 13 trisomy. […] That is why it is so important to know the analyses and tests that can be performed during pregnancy to diagnose this syndrome and act as both the doctors and the pregnant woman deem appropriate. Some of the tests are fetal ultrasound (it is not an official diagnosis), amniocentesis, first trimester screening (it is only predictive), chorionic villus sampling (it has a risk of miscarriage) and non-invasive prenatal testing, NIPT. […] Since this is a very serious disease, it is necessary to perform the appropriate analytical procedures, so that the pregnant woman is as comfortable as possible and does not run any risk. You should always be advised by your doctor or gynecologist.

• #4

  https://journals.lww.com/jmcu/fulltext/2025/01000/multidisciplinary_intervention_for_patau_syndrome.6.aspx

  Trisomy 13 is a clinically severe condition wherein has a median life expectancy of 7 to 10 days, approximately 90% of patients end up dying during the 1st year of life. […] The survival rate in Patau syndrome patients is usually limited, and the majority of carriers do not survive through their 1st year of life. […] Due to individuals consistently poor prognoses despite treatment, intensive care for Patau syndrome is controversial. […] In the present study, we presented a novel case of Patau syndrome with an unusual life span. […] This case highlights the significant disabilities that can be expected from a child with Patau syndrome with long survival. […] Understanding factors linked to prolonged survival is important for predicting prognosis and counseling families who had infants diagnosed with trisomy 13. […] Intensive medical care and repeated hospitalization are still globally controversial, but it could still prolong patients survival rate alongside multiple determinants which include genetic translocations or mosaicism, race, and female gender.

• #5 Patau Syndrome and Perinatal Decision Making, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/patau-syndrome-and-perinatal-decision-making-commentary-2/2005-05

  Mariana, 18, is 6 months pregnant with her first child. A routine screening ultrasound at 20 weeks demonstrated a constellation of severe fetal defects, including a structural brain anomaly, multiple heart defects, and an abdominal wall defect. Concerned about a possible genetic syndrome, Mariana’s obstetrician, Dr. Wilson, scheduled an amniocentesis, which confirmed trisomy 13 (Patau syndrome). Dr. Wilson informed Mariana and her parents, with whom she lived, that the fetus had a severe genetic anomaly, and that the prognosis was poor. Eighty percent of affected infants die within the first month of life, only 5 percent survive the first 6 months. Those who survive past the first year have severe mental deficiency and seizures and fail to thrive. […] The obstetrician offered the family 2 options: early induction of labor to terminate the pregnancy or term delivery of the child with palliative care after birth.

• #6 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Patau-Syndrome.aspx

  There is no definitive treatment for Pataus syndrome. As it cannot be cured, the treatment is usually based on the symptoms that ail the baby. The aim of the medical staff at the hospital is to minimize the discomfort of the baby and ensure that it is able to feed. Very often, the baby will be unable to respond to normal stimuli due to its abnormal development. […] The care of the baby includes counseling the parents about what to expect. A support system is essential to help the new parents deal with the stark reality of the fact that their baby is not going to live beyond a year, if it makes it past the first week in the hospital. It can be an emotionally traumatic experience for the parents.

• #7 Trisomy 13/Patau Syndrome: Causes, Symptoms And Prevention Of this Genetic Disorder 

  https://www.netmeds.com/health-library/post/trisomy-13-patau-syndrome-causes-symptoms-and-prevention-of-this-genetic-disorder?srsltid=AfmBOornc5nmlIksG6RGdWeiCubW6Wk8juelnHzBoezfWkC541g6NvO5

  There’s no specific treatment for Patau’s syndrome. As there are health issues that are mostly severe, the doctors usually focus on minimizing discomfort to a newborn baby with Patau’s syndrome and ensuring that the baby can eat and breathe comfortably. The care of newborn babies who survive beyond fewer weeks largely depends on the specific symptoms they seem to display. Most likely, if the newborn baby is diagnosed with Patau’s syndrome, either before its birth or shortly after he or she is born, the parents will be offered counseling as the chances of survival are almost negligible.

• #8 Patau’s syndrome

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

  There’s no specific treatment for Patau’s syndrome. As a result of the severe health problems a newborn baby with the syndrome will have, doctors usually focus on minimising discomfort and ensuring the baby is able to feed. […] For the small number of babies with Patau’s syndrome who survive beyond the first few days of life, their care will depend on their specific symptoms and needs. […] If your baby is diagnosed with Patau’s syndrome, either before birth or shortly afterwards, you’ll be offered counselling and support.

• #9 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Patau-Syndrome.aspx

  There is no definitive treatment for Pataus syndrome. As it cannot be cured, the treatment is usually based on the symptoms that ail the baby. The aim of the medical staff at the hospital is to minimize the discomfort of the baby and ensure that it is able to feed. Very often, the baby will be unable to respond to normal stimuli due to its abnormal development. […] The care of the baby includes counseling the parents about what to expect. A support system is essential to help the new parents deal with the stark reality of the fact that their baby is not going to live beyond a year, if it makes it past the first week in the hospital. It can be an emotionally traumatic experience for the parents.

• #10 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] This activity describes the evaluation and management of Patau syndrome and reviews the role of the interprofessional team in improving care for patients with this condition. […] Outline the importance of improving care coordination among the interprofessional team to enhance the delivery of care by counseling the family on the poor prognosis of Patau syndrome so they can make informed decisions about its management. […] Intensive treatment of Patau syndrome is controversial due to the universally poor prognosis of patients despite treatment. […] At delivery, infants diagnosed with Patau syndrome may need post-delivery oxygenation and ventilation; this may require intubation or tracheostomy due to facial defects.

• #11 Patau’s Syndrome – South West Fetal Network

  https://southwestfetalmedicine.co.uk/conditions/pataus-syndrome/

  Pataus syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the bodys cells. Its also called trisomy 13. […] Theres no specific treatment for Pataus syndrome. As a result of the severe health problems a newborn baby with the syndrome will have, doctors usually focus on minimising discomfort and ensuring the baby is able to feed. […] For the small number of babies with Pataus syndrome who survive beyond the first few days of life, their care will depend on their specific symptoms and needs. […] If your baby is diagnosed with Pataus syndrome, either before birth or shortly afterwards, youll be offered counselling and support.

• #12 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] This activity describes the evaluation and management of Patau syndrome and reviews the role of the interprofessional team in improving care for patients with this condition. […] Outline the importance of improving care coordination among the interprofessional team to enhance the delivery of care by counseling the family on the poor prognosis of Patau syndrome so they can make informed decisions about its management. […] Intensive treatment of Patau syndrome is controversial due to the universally poor prognosis of patients despite treatment. […] At delivery, infants diagnosed with Patau syndrome may need post-delivery oxygenation and ventilation; this may require intubation or tracheostomy due to facial defects.

• #13

  https://journals.lww.com/jmcu/fulltext/2025/01000/multidisciplinary_intervention_for_patau_syndrome.6.aspx

  Trisomy 13 is a clinically severe condition wherein has a median life expectancy of 7 to 10 days, approximately 90% of patients end up dying during the 1st year of life. […] The survival rate in Patau syndrome patients is usually limited, and the majority of carriers do not survive through their 1st year of life. […] Due to individuals consistently poor prognoses despite treatment, intensive care for Patau syndrome is controversial. […] In the present study, we presented a novel case of Patau syndrome with an unusual life span. […] This case highlights the significant disabilities that can be expected from a child with Patau syndrome with long survival. […] Understanding factors linked to prolonged survival is important for predicting prognosis and counseling families who had infants diagnosed with trisomy 13. […] Intensive medical care and repeated hospitalization are still globally controversial, but it could still prolong patients survival rate alongside multiple determinants which include genetic translocations or mosaicism, race, and female gender.

• #14 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Management of children with Patau syndrome is complex; it requires sensitive counselling, discussions with the family and shared decision making. […] Patient support charity SOFT UK provides some guidance about managing such conversations with families. For some patients, a palliative approach may be pursued; for others, more intensive interventions may be undertaken. Care should be delivered via a multidisciplinary team.

• #15 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. […] Patau syndrome requires an interprofessional team approach. […] Parents of patients diagnosed with this devastating disease should be provided with education and support regarding all of the possible complications the infant may be born with. […] If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. […] As the psychological toll on the families of patients with Patau syndrome is extensive, mental health specialists should be utilized as soon as the diagnosis is made.

• #16 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. […] Patau syndrome requires an interprofessional team approach. […] Parents of patients diagnosed with this devastating disease should be provided with education and support regarding all of the possible complications the infant may be born with. […] If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. […] As the psychological toll on the families of patients with Patau syndrome is extensive, mental health specialists should be utilized as soon as the diagnosis is made.

• #17 Patau Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947706-treatment

  All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies. […] Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis. […] Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. […] Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. […] Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. […] Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support. […] In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed.

• #18 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #19

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/

  The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patients overall care. […] An established routine was in place, involving weekly medical care, physiotherapy five times a week, speech therapy three times a week, and occupational therapy once a week. This structured approach had a positive impact on improving survival rates and increasing life expectancy. […] Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival.

• #20 Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

  https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-13-patau-syndrome-causes-symptoms-types-diagnosis-treatment-and-prevention

  Trisomy 13 (Patau syndrome) is the result of having the 13th chromosome in a person’s DNA three times, as opposed to twice. Trisomy 13 affects a child’s face, brain, and heart development in addition to causing physical growth issues throughout the child’s body. […] After delivery, your child will likely spend a while in the neonatal intensive care unit (NICU), where, based on physical indicators, your doctor will administer life-saving care to maximise your child’s chances of survival. […] Trisomy 13 must be addressed both soon after birth and gradually to help with any symptoms that may arise. Options for treating newborns with trisomy include: support for schooling, drugs that reduce the symptoms, behavioural, speech, and physical therapy, and operations to fix any physical abnormalities. […] Severe symptoms may mean that your child never gets to celebrate their first birthday, even though trisomy 13 can occasionally result in a live birth. Miscarriage or loss of pregnancy is the most common result of a trisomy 13 diagnosis.

• #21 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] This activity describes the evaluation and management of Patau syndrome and reviews the role of the interprofessional team in improving care for patients with this condition. […] Outline the importance of improving care coordination among the interprofessional team to enhance the delivery of care by counseling the family on the poor prognosis of Patau syndrome so they can make informed decisions about its management. […] Intensive treatment of Patau syndrome is controversial due to the universally poor prognosis of patients despite treatment. […] At delivery, infants diagnosed with Patau syndrome may need post-delivery oxygenation and ventilation; this may require intubation or tracheostomy due to facial defects.

• #22 Patau Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947706-treatment

  All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies. […] Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis. […] Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. […] Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. […] Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. […] Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support. […] In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed.

• #23 Patau’s syndrome | NHS inform

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

  Babies with full form Pataus 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 Pataus 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. […] Feedback from many parents suggests that children with Pataus syndrome have a good quality of life and are valued members of the family.

• #24 Patau’s syndrome

  https://www.babycentre.co.uk/a1024192/pataus-syndrome

  Babies with Patau’s syndrome have major physical and mental disabilities and severe health problems (Best 2017, NHS 2016, Tidy 2016). […] Depending on the type and severity of Patau’s syndrome, your baby is likely to need intensive care to help with life-threatening conditions, such as heart problems, breathing and feeding difficulties (NHS 2016). […] You are likely to face difficult discussions with your baby’s medical team about getting the right balance between treating your baby, and allowing him to be free of further medical interventions (Best 2017, Tidy 2016). […] It’s important to have as much information as possible, so you can think through and talk about what’s best for you, your baby and the rest of your family (ARC nd b).

• #25 Patau Syndrome and Perinatal Decision Making, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/patau-syndrome-and-perinatal-decision-making-commentary-2/2005-05

  Mariana, 18, is 6 months pregnant with her first child. A routine screening ultrasound at 20 weeks demonstrated a constellation of severe fetal defects, including a structural brain anomaly, multiple heart defects, and an abdominal wall defect. Concerned about a possible genetic syndrome, Mariana’s obstetrician, Dr. Wilson, scheduled an amniocentesis, which confirmed trisomy 13 (Patau syndrome). Dr. Wilson informed Mariana and her parents, with whom she lived, that the fetus had a severe genetic anomaly, and that the prognosis was poor. Eighty percent of affected infants die within the first month of life, only 5 percent survive the first 6 months. Those who survive past the first year have severe mental deficiency and seizures and fail to thrive. […] The obstetrician offered the family 2 options: early induction of labor to terminate the pregnancy or term delivery of the child with palliative care after birth.

• #26 Patau syndrome | Contact

  https://contact.org.uk/conditions/patau-syndrome/

  Parents should meet with the obstetric and neonatal teams to discuss the diagnosis and to prepare for delivery and the care of their baby. […] It is likely that the baby will be admitted to the special care baby unit, and will require supportive treatments over the first days of life. Many babies with Patau syndrome have congenital problems such as a cleft lip/palate or heart defects. They will need treatments to alleviate symptoms and improve their quality of life. […] If a baby is well enough to leave hospital, community support arrangements should be put in place, and follow-up plans made with the local paediatric team.

• #27 Patau Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947706-treatment

  All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies. […] Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis. […] Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. […] Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. […] Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. […] Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support. […] In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed.

• #28 Heart surgery could help babies with trisomy 13 and trisomy 18 live longer | Stanford Medicine

  https://stanmed.stanford.edu/heart-surgery-could-help-babies-with-trisomy-13-and-trisomy-18-live-longer/

  In a recent study published in Pediatrics, Collins and colleagues from the University of Arkansas for Medical Sciences showed that heart surgery can more than double the life spans of babies with trisomy 13, also called Patau syndrome, or trisomy 18, also called Edwards syndrome. […] Extending the lives of these babies means they still might not live past the age of 2, but even that improvement gives parents more time with their children and more options for care, Collins points out. […] Collins says he hopes the research will change how doctors approach treating Patau and Edwards syndrome babies once heart issues are addressed. He says he plans to study more than 3,000 trisomy 13 and 18 patients to determine how their collective health problems fit together, with a goal toward creating a guideline for treatment priorities. […] „Surgery gives parents the option to say, ‘We’re going to do everything we can for our baby,’” Collins says. „And, now we’ve shown that heart surgeries could allow parents to take their babies home from the hospital, and have them for two years or beyond, as opposed to two weeks.”

• #29 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Patau syndrome is a severe systemic disorder that affects many essential body systems and functions. […] Treatment is usually specifically directed to the particular physical problems with which each affected child is born. […] Most die from serious heart defects or severe neurological problems. Historically, medical treatment has focused primarily on patient comfort and noninvasive symptom treatment rather than on prolonging life. […] Surgery may be performed to repair heart defects or cleft lip and palate. […] In those Patau syndrome cases where survival extends beyond one or two years, additional surgeries and physical therapy are often undertaken to allow the affected child to reach his or her full developmental potential. […] Genetic counseling should always be available for parents of an affected child, and amniocentesis is an option for older at-risk mothers.

• #30 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. […] Patau syndrome requires an interprofessional team approach. […] Parents of patients diagnosed with this devastating disease should be provided with education and support regarding all of the possible complications the infant may be born with. […] If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. […] As the psychological toll on the families of patients with Patau syndrome is extensive, mental health specialists should be utilized as soon as the diagnosis is made.

• #31 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #32 Patau’s syndrome

  https://www.babycentre.co.uk/a1024192/pataus-syndrome

  Babies with Patau’s syndrome have major physical and mental disabilities and severe health problems (Best 2017, NHS 2016, Tidy 2016). […] Depending on the type and severity of Patau’s syndrome, your baby is likely to need intensive care to help with life-threatening conditions, such as heart problems, breathing and feeding difficulties (NHS 2016). […] You are likely to face difficult discussions with your baby’s medical team about getting the right balance between treating your baby, and allowing him to be free of further medical interventions (Best 2017, Tidy 2016). […] It’s important to have as much information as possible, so you can think through and talk about what’s best for you, your baby and the rest of your family (ARC nd b).

• #33 Patau Syndrome: Understanding Trisomy 13 Disorder – DoveMed

  https://www.dovemed.com/health-topics/focused-health-topics/patau-syndrome-understanding-trisomy-13-disorder

  Patau syndrome is a rare chromosomal disorder characterized by the presence of an extra copy of chromosome 13. […] The management of Patau syndrome involves a multidisciplinary approach to address the various medical, developmental, and psychosocial needs of affected individuals. Treatment options and management strategies may include: […] Palliative care: Due to the severe nature of Patau syndrome and associated health complications, palliative care focuses on providing comfort, pain management, and support to enhance the quality of life for affected individuals and their families. […] Genetic counseling: Families affected by Patau syndrome can benefit from genetic counseling to understand the inheritance pattern, recurrence risks, and available reproductive options. […] Early intervention programs: Accessing early intervention services and programs can support the developmental needs of infants and young children with Patau syndrome. […] Understanding its causes, symptoms, diagnosis, treatment options, management strategies, and available supportive measures is crucial for affected individuals, their families, and healthcare professionals.

• #34 An 8-week-old infant with trisomy 13: dilemmas for medical decision making – Staso – AME Case Reports

  https://acr.amegroups.org/article/view/4270/html

  Patau syndrome, trisomy 13, is a rare genetic condition with notable physical and mental characteristics and an average reported lifespan of 9 months. […] The standard of medical care has mainly focused on education of the family, and palliative care measures, and withholding of invasive interventions. […] Early palliative care helps to limit physical and emotional suffering, and allow the family to create a legacy that their baby’s life had meaning, regardless of how long they survive. […] The infant received supportive care and no reparative interventions for heart defects. […] Early palliative care may help limit physical and emotional suffering and offer nontraditional care opportunities to allow the family to create a legacy that their baby’s life had meaning, regardless of the duration of survival.

• #35 An 8-week-old infant with trisomy 13: dilemmas for medical decision making – Staso – AME Case Reports

  https://acr.amegroups.org/article/view/4270/html

  Palliative care including nursing consistency, private family time, and undisturbed sleep have been seen to improve family dynamics and clinical outcome. […] Employing early palliative care helps the family get resources and networking which will enrich the lives of the children with trisomy 13 and their families.

• #36 An 8-week-old infant with trisomy 13: dilemmas for medical decision making – Staso – AME Case Reports

  https://acr.amegroups.org/article/view/4270/html

  Palliative care including nursing consistency, private family time, and undisturbed sleep have been seen to improve family dynamics and clinical outcome. […] Employing early palliative care helps the family get resources and networking which will enrich the lives of the children with trisomy 13 and their families.

• #37 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #38 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  An established routine was in place, involving weekly medical care, physiotherapy five times a week, speech therapy three times a week, and occupational therapy once a week. This structured approach had a positive impact on improving survival rates and increasing life expectancy. Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival.

• #39 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #40

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/

  To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. […] A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members. […] This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being.

• #41 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #42 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  An established routine was in place, involving weekly medical care, physiotherapy five times a week, speech therapy three times a week, and occupational therapy once a week. This structured approach had a positive impact on improving survival rates and increasing life expectancy. Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival.

• #43 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. […] Patau syndrome requires an interprofessional team approach. […] Parents of patients diagnosed with this devastating disease should be provided with education and support regarding all of the possible complications the infant may be born with. […] If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. […] As the psychological toll on the families of patients with Patau syndrome is extensive, mental health specialists should be utilized as soon as the diagnosis is made.

• #44 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. […] Patau syndrome requires an interprofessional team approach. […] Parents of patients diagnosed with this devastating disease should be provided with education and support regarding all of the possible complications the infant may be born with. […] If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. […] As the psychological toll on the families of patients with Patau syndrome is extensive, mental health specialists should be utilized as soon as the diagnosis is made.

• #45 Patau Syndrome: Understanding Trisomy 13 Disorder – DoveMed

  https://www.dovemed.com/health-topics/focused-health-topics/patau-syndrome-understanding-trisomy-13-disorder

  Patau syndrome is a rare chromosomal disorder characterized by the presence of an extra copy of chromosome 13. […] The management of Patau syndrome involves a multidisciplinary approach to address the various medical, developmental, and psychosocial needs of affected individuals. Treatment options and management strategies may include: […] Palliative care: Due to the severe nature of Patau syndrome and associated health complications, palliative care focuses on providing comfort, pain management, and support to enhance the quality of life for affected individuals and their families. […] Genetic counseling: Families affected by Patau syndrome can benefit from genetic counseling to understand the inheritance pattern, recurrence risks, and available reproductive options. […] Early intervention programs: Accessing early intervention services and programs can support the developmental needs of infants and young children with Patau syndrome. […] Understanding its causes, symptoms, diagnosis, treatment options, management strategies, and available supportive measures is crucial for affected individuals, their families, and healthcare professionals.

• #46 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Patau syndrome is a severe systemic disorder that affects many essential body systems and functions. […] Treatment is usually specifically directed to the particular physical problems with which each affected child is born. […] Most die from serious heart defects or severe neurological problems. Historically, medical treatment has focused primarily on patient comfort and noninvasive symptom treatment rather than on prolonging life. […] Surgery may be performed to repair heart defects or cleft lip and palate. […] In those Patau syndrome cases where survival extends beyond one or two years, additional surgeries and physical therapy are often undertaken to allow the affected child to reach his or her full developmental potential. […] Genetic counseling should always be available for parents of an affected child, and amniocentesis is an option for older at-risk mothers.

• #47 Patau Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947706-treatment

  All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies. […] Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis. […] Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. […] Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. […] Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. […] Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support. […] In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed.

• #48 Grace Lived for ten weeks with Patau’s Syndrome – One Day More

  https://onedaymore.ie/grace-lived-ten-weeks-pataus-syndrome/

  This was my second pregnancy and I went for the 20 week scan. They picked up some abnormalities including cleft palate, fluid on the brain and some other markers as they called them that were indicating the baby had Pataus syndrome. […] We were told it was a fatal condition and even the likelihood of the baby surviving the pregnancy was slim. […] We got tremendous support firstly our public health nurse who happened to be a Paediatric nurse so when we were at home with Grace her daily visits were a god send. We got fabulous support from the Jack Jill Childrens Foundation. Financially they supported us so we could get in nurses four nights a week to care for Grace as she required 24 hr. care. In addition their emotional support was great the liaison nurse called once or twice a week and really just offered advice etc.

• #49

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/

  The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patients overall care. […] An established routine was in place, involving weekly medical care, physiotherapy five times a week, speech therapy three times a week, and occupational therapy once a week. This structured approach had a positive impact on improving survival rates and increasing life expectancy. […] Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival.

• #50 Patau Syndrome and Perinatal Decision Making, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/patau-syndrome-and-perinatal-decision-making-commentary-2/2005-05

  At this point, Dr. Wilson explained to the family that, given the poor prognosis associated with Patau syndrome, she believed the best course of action was conservative management of the pregnancy, with no aggressive measures taken either in the peripartum period or in the neonatal intensive care unit. […] With regard to the care of a newborn with multiple life-threatening congenital anomalies such as trisomy 13 or Patau syndrome, it’s preferable to provide the care available and let the baby take the natural course if symptoms worsen despite the medical care. Parents of severely handicapped children are best able to make appropriate decisions for them when given not only good medical care but also support by medical experts who are truly conscious of parental religious beliefs and values. […] The optimum management can be achieved not only with the best medical technology and treatment but also with significant awareness of parental religious beliefs and values in caring for the patient and the family.

• #51 Patau’s syndrome

  https://www.babycentre.co.uk/a1024192/pataus-syndrome

  Babies with Patau’s syndrome have major physical and mental disabilities and severe health problems (Best 2017, NHS 2016, Tidy 2016). […] Depending on the type and severity of Patau’s syndrome, your baby is likely to need intensive care to help with life-threatening conditions, such as heart problems, breathing and feeding difficulties (NHS 2016). […] You are likely to face difficult discussions with your baby’s medical team about getting the right balance between treating your baby, and allowing him to be free of further medical interventions (Best 2017, Tidy 2016). […] It’s important to have as much information as possible, so you can think through and talk about what’s best for you, your baby and the rest of your family (ARC nd b).

• #52 Patau Syndrome and Perinatal Decision Making, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/patau-syndrome-and-perinatal-decision-making-commentary-2/2005-05

  At this point, Dr. Wilson explained to the family that, given the poor prognosis associated with Patau syndrome, she believed the best course of action was conservative management of the pregnancy, with no aggressive measures taken either in the peripartum period or in the neonatal intensive care unit. […] With regard to the care of a newborn with multiple life-threatening congenital anomalies such as trisomy 13 or Patau syndrome, it’s preferable to provide the care available and let the baby take the natural course if symptoms worsen despite the medical care. Parents of severely handicapped children are best able to make appropriate decisions for them when given not only good medical care but also support by medical experts who are truly conscious of parental religious beliefs and values. […] The optimum management can be achieved not only with the best medical technology and treatment but also with significant awareness of parental religious beliefs and values in caring for the patient and the family.

• #53 Patau Syndrome and Perinatal Decision Making, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/patau-syndrome-and-perinatal-decision-making-commentary-2/2005-05

  At this point, Dr. Wilson explained to the family that, given the poor prognosis associated with Patau syndrome, she believed the best course of action was conservative management of the pregnancy, with no aggressive measures taken either in the peripartum period or in the neonatal intensive care unit. […] With regard to the care of a newborn with multiple life-threatening congenital anomalies such as trisomy 13 or Patau syndrome, it’s preferable to provide the care available and let the baby take the natural course if symptoms worsen despite the medical care. Parents of severely handicapped children are best able to make appropriate decisions for them when given not only good medical care but also support by medical experts who are truly conscious of parental religious beliefs and values. […] The optimum management can be achieved not only with the best medical technology and treatment but also with significant awareness of parental religious beliefs and values in caring for the patient and the family.

• #54 Patau’s syndrome

  https://www.babycentre.co.uk/a1024192/pataus-syndrome

  Babies with Patau’s syndrome have major physical and mental disabilities and severe health problems (Best 2017, NHS 2016, Tidy 2016). […] Depending on the type and severity of Patau’s syndrome, your baby is likely to need intensive care to help with life-threatening conditions, such as heart problems, breathing and feeding difficulties (NHS 2016). […] You are likely to face difficult discussions with your baby’s medical team about getting the right balance between treating your baby, and allowing him to be free of further medical interventions (Best 2017, Tidy 2016). […] It’s important to have as much information as possible, so you can think through and talk about what’s best for you, your baby and the rest of your family (ARC nd b).

• #55 Facts about Patau Syndrome

  https://www.mybabydoc.com/facts-about-patau-syndrome/

  If a child is diagnosed with trisomy 13 it is important that the parents trust their obstetrician or gynecologist and have open conversation about their concerns and wishes for their child. […] For infants with Patau Syndrome, care is decided based on the specific medical situation and the family’s wishes. Generally, treatment is aimed at providing comfort to the baby and to the family during this difficult time. Although long-term survival is not expected, psychological, physical, medical, occupational, and speech therapy can help families and infants cope and reach their full developmental potential.

• #56 CE Activity | Patau Syndrome | Nurses

  https://www.statpearls.com/nurse/ce/activity/40471

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. It is characterized by cleft lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, trigger thumbs, and capillary hemangiomata. This activity describes the evaluation and management of Patau syndrome and reviews the role of the interprofessional team in improving care for patients with this condition. […] This activity has been designed to meet the educational needs of physicians, physician associates, nurses, pharmacists, and nurse practitioners. […] Review the treatment considerations for patients with Patau syndrome. […] Outline the importance of improving care coordination among the interprofessional team to enhance the delivery of care by counseling the family on the poor prognosis of Patau syndrome so they can make informed decisions about its management. […] Nurses should only claim credit commensurate with the extent of their participation in the activity.

• #57 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #58 Patau’s syndrome | NHS inform

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

  Babies with full form Pataus 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 Pataus 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. […] Feedback from many parents suggests that children with Pataus syndrome have a good quality of life and are valued members of the family.

• #59 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  Objective: To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] Despite the severity of the case, the patient, who is now two years old, receives dedicated care at home through the Home Care program, which could be contributing to patient survival. She relies on a tracheostomy and gastrostomy for her medical needs, and has the support of a 24-hour nursing technician. Additionally, she undergoes comprehensive medical care, including weekly medical check-ups, physiotherapy sessions five times a week, speech therapy once a week, monthly consultations with a nutritionist, and psychological support for her family members. […] The nursing team provided essential guidance to prevent skin injuries and bedsores while maintaining a vigilant focus on the patient’s overall care. They offered valuable advice on caregiver hygiene to minimize the risk of infectious processes. Additionally, the team ensured the patient received proper nutrition through age-specific formulas.

• #60 Patau Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947706-treatment

  All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies. […] Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis. […] Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. […] Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. […] Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. […] Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support. […] In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed.

• #61 Patau’s syndrome | NHS inform

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

  Babies with full form Pataus 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 Pataus 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. […] Feedback from many parents suggests that children with Pataus syndrome have a good quality of life and are valued members of the family.

• #62 Section 4 – What is Patau’s syndrome and living with Patau’s syndrome? – Public Health Wales

  https://phw.nhs.wales/services-and-teams/screening/antenatal-screening-wales/information-resources/leaflets/information-for-women-offered-further-tests-for-suspected-chromosomal-conditions/section-4/

  Babies born with Pataus syndrome will have a narrow but often serious range of conditions. […] Babies and children with Pataus syndrome will be under the care of a specialist medical team as babies and children with this condition will have complex needs. […] Children born with Pataus syndrome usually develop and learn more slowly than other children. They have a range of complex challenges. They will need to attend special school.

• #63 Patau’s syndrome | NHS inform

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

  Babies with full form Pataus 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 Pataus 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. […] Feedback from many parents suggests that children with Pataus syndrome have a good quality of life and are valued members of the family.

• #64 Patau Syndrome: Understanding Trisomy 13 Disorder – DoveMed

  https://www.dovemed.com/health-topics/focused-health-topics/patau-syndrome-understanding-trisomy-13-disorder

  Patau syndrome is a rare chromosomal disorder characterized by the presence of an extra copy of chromosome 13. […] The management of Patau syndrome involves a multidisciplinary approach to address the various medical, developmental, and psychosocial needs of affected individuals. Treatment options and management strategies may include: […] Palliative care: Due to the severe nature of Patau syndrome and associated health complications, palliative care focuses on providing comfort, pain management, and support to enhance the quality of life for affected individuals and their families. […] Genetic counseling: Families affected by Patau syndrome can benefit from genetic counseling to understand the inheritance pattern, recurrence risks, and available reproductive options. […] Early intervention programs: Accessing early intervention services and programs can support the developmental needs of infants and young children with Patau syndrome. […] Understanding its causes, symptoms, diagnosis, treatment options, management strategies, and available supportive measures is crucial for affected individuals, their families, and healthcare professionals.

• #65 SciELO Brazil – Trisomy 13, home health-care and multidisciplinary approach: Case report Trisomy 13, home health-care and multidisciplinary approach: Case report

  https://www.scielo.br/j/rpp/a/pGTCVdsSS4RZC9sbbZJGHZk/

  An established routine was in place, involving weekly medical care, physiotherapy five times a week, speech therapy three times a week, and occupational therapy once a week. This structured approach had a positive impact on improving survival rates and increasing life expectancy. Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival.

• #66 Facts about Patau Syndrome

  https://www.mybabydoc.com/facts-about-patau-syndrome/

  If a child is diagnosed with trisomy 13 it is important that the parents trust their obstetrician or gynecologist and have open conversation about their concerns and wishes for their child. […] For infants with Patau Syndrome, care is decided based on the specific medical situation and the family’s wishes. Generally, treatment is aimed at providing comfort to the baby and to the family during this difficult time. Although long-term survival is not expected, psychological, physical, medical, occupational, and speech therapy can help families and infants cope and reach their full developmental potential.

• #67 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Patau syndrome is a severe systemic disorder that affects many essential body systems and functions. […] Treatment is usually specifically directed to the particular physical problems with which each affected child is born. […] Most die from serious heart defects or severe neurological problems. Historically, medical treatment has focused primarily on patient comfort and noninvasive symptom treatment rather than on prolonging life. […] Surgery may be performed to repair heart defects or cleft lip and palate. […] In those Patau syndrome cases where survival extends beyond one or two years, additional surgeries and physical therapy are often undertaken to allow the affected child to reach his or her full developmental potential. […] Genetic counseling should always be available for parents of an affected child, and amniocentesis is an option for older at-risk mothers.

• #68 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Management of children with Patau syndrome is complex; it requires sensitive counselling, discussions with the family and shared decision making. […] Patient support charity SOFT UK provides some guidance about managing such conversations with families. For some patients, a palliative approach may be pursued; for others, more intensive interventions may be undertaken. Care should be delivered via a multidisciplinary team.

• #69 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] This activity describes the evaluation and management of Patau syndrome and reviews the role of the interprofessional team in improving care for patients with this condition. […] Outline the importance of improving care coordination among the interprofessional team to enhance the delivery of care by counseling the family on the poor prognosis of Patau syndrome so they can make informed decisions about its management. […] Intensive treatment of Patau syndrome is controversial due to the universally poor prognosis of patients despite treatment. […] At delivery, infants diagnosed with Patau syndrome may need post-delivery oxygenation and ventilation; this may require intubation or tracheostomy due to facial defects.

• #70 Trisomy 13 (Patau Syndrome): Understanding Diagnosis and Care

  https://prenataldiagnosis.org/trisomy-13

  Trisomy 13 (T13), or Patau syndrome, is a genetic disorder that occurs when an infant receives an extra copy of chromosome 13 at conception. […] Trisomy 13 is a life-limiting condition associated with a significant risk of mortality and severe disability. […] Children with T13 should be medically evaluated as individuals. […] There are studies that show that babies with T13 benefit from active care at birth and in the first months of life, allowing them to live longer lives. […] Treatment options such as surgeries, medicine, feeding assistance, and breathing assistance to correct physical abnormalities, as well as therapeutic treatment to address motor skills and mental disabilities, can be pursued to manage the baby’s symptoms to improve the quality and length of the baby’s life after birth. […] Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition.

• #71 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. […] Patau syndrome requires an interprofessional team approach. […] Parents of patients diagnosed with this devastating disease should be provided with education and support regarding all of the possible complications the infant may be born with. […] If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. […] As the psychological toll on the families of patients with Patau syndrome is extensive, mental health specialists should be utilized as soon as the diagnosis is made.

• #72

  https://www.gov.uk/government/publications/trisomy-13-description-in-brief/pataus-syndrome-information-for-parents

  You are reading this information because your baby is suspected of having Pataus syndrome (also known as Trisomy 13 or T13) following your 20-week scan. […] This information should help you and your health professionals to talk through the next stages of you and your babys care. It should support, but not replace, discussions you have with health professionals. […] We will refer you to a specialist team who will: provide more accurate information about your babys condition, answer your questions, help you plan the next steps. […] Babies with Pataus syndrome are likely to need specialist care and treatment after they are born. This will focus on the symptoms of the condition that they have. […] If you decide to continue with your pregnancy, the specialist team will help you plan your care. The team will discuss with you how you wish your baby to be cared for after birth. Depending on your babys specific symptoms, palliative care may be offered. Childrens palliative care is about promoting the best possible quality of life and care for every child with a life-limiting condition and their family. […] Whatever decision you make, your healthcare professionals will support you.

• #73 Trisomy 13 (Patau Syndrome): Understanding Diagnosis and Care

  https://prenataldiagnosis.org/trisomy-13

  Trisomy 13 (T13), or Patau syndrome, is a genetic disorder that occurs when an infant receives an extra copy of chromosome 13 at conception. […] Trisomy 13 is a life-limiting condition associated with a significant risk of mortality and severe disability. […] Children with T13 should be medically evaluated as individuals. […] There are studies that show that babies with T13 benefit from active care at birth and in the first months of life, allowing them to live longer lives. […] Treatment options such as surgeries, medicine, feeding assistance, and breathing assistance to correct physical abnormalities, as well as therapeutic treatment to address motor skills and mental disabilities, can be pursued to manage the baby’s symptoms to improve the quality and length of the baby’s life after birth. […] Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition.

• #74 The Genetic Mechanisms and Therapeutic Interventions of Patau Syn

  https://www.longdom.org/open-access/the-genetic-mechanisms-and-therapeutic-interventions-of-patau-syndrome-a-chromosomal-syndrome-105847.html

  There is no cure for Patau syndrome, and treatment is focused on managing the individual symptoms and providing supportive care. This may involve surgeries to correct physical abnormalities, interventions to address cardiac or renal issues, and early intervention programs to support developmental delays. A multidisciplinary approach involving medical professionals, therapists, and educators is essential to provide comprehensive care. […] Support networks, early intervention, and compassionate care play crucial roles in enhancing the quality of life for individuals with Patau syndrome and their families.

• #75 Patau Syndrome and Perinatal Decision Making, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/patau-syndrome-and-perinatal-decision-making-commentary-2/2005-05

  At this point, Dr. Wilson explained to the family that, given the poor prognosis associated with Patau syndrome, she believed the best course of action was conservative management of the pregnancy, with no aggressive measures taken either in the peripartum period or in the neonatal intensive care unit. […] With regard to the care of a newborn with multiple life-threatening congenital anomalies such as trisomy 13 or Patau syndrome, it’s preferable to provide the care available and let the baby take the natural course if symptoms worsen despite the medical care. Parents of severely handicapped children are best able to make appropriate decisions for them when given not only good medical care but also support by medical experts who are truly conscious of parental religious beliefs and values. […] The optimum management can be achieved not only with the best medical technology and treatment but also with significant awareness of parental religious beliefs and values in caring for the patient and the family.

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