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. […] Review the treatment considerations for patients with Patau syndrome. […] 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. Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. Other surgeries may be indicated for common defects including herniorrhaphy, cleft lip repair, feeding tube placement, or corrective orthopedic surgeries.

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

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

  Tocolysis (medical management to reduce uterine contractions) in an effort to prevent preterm birth is not a reasonable option due to the lethal nature of this condition. […] 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. […] Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurologic and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival. […] 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.

• #3 Trisomy 13 – UF Health

  https://ufhealth.org/conditions-and-treatments/trisomy-13

  There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms.

• #3 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Treating Patau syndrome, a genetic disorder with a generally poor outlook, is often a topic of debate, as its uncertain whether intensive treatment can significantly improve the patients prognosis. […] At birth, babies diagnosed with Patau syndrome may need additional oxygen and help with breathing, which might involve a procedure to open the airway (intubation) or creating an opening in the neck to the windpipe (tracheostomy) due to facial abnormalities. If the baby has heart defects, they might need heart surgery to fix them. There could also be a need for other surgeries to fix common issues such as hernias, cleft lip, difficulties with feeding, or problems with bones and joints. […] Furthermore, the newborn might need special nutritional care, concurrent medications to prevent seizures, prophylactic antibiotics to guard against urinary tract infections, and possibly the use of hearing aids.

• #4 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. […] Review the treatment considerations for patients with Patau syndrome. […] 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. Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. Other surgeries may be indicated for common defects including herniorrhaphy, cleft lip repair, feeding tube placement, or corrective orthopedic surgeries.

• #5 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Treating Patau syndrome, a genetic disorder with a generally poor outlook, is often a topic of debate, as its uncertain whether intensive treatment can significantly improve the patients prognosis. […] At birth, babies diagnosed with Patau syndrome may need additional oxygen and help with breathing, which might involve a procedure to open the airway (intubation) or creating an opening in the neck to the windpipe (tracheostomy) due to facial abnormalities. If the baby has heart defects, they might need heart surgery to fix them. There could also be a need for other surgeries to fix common issues such as hernias, cleft lip, difficulties with feeding, or problems with bones and joints. […] Furthermore, the newborn might need special nutritional care, concurrent medications to prevent seizures, prophylactic antibiotics to guard against urinary tract infections, and possibly the use of hearing aids.

• #6 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. […] Review the treatment considerations for patients with Patau syndrome. […] 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. Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. Other surgeries may be indicated for common defects including herniorrhaphy, cleft lip repair, feeding tube placement, or corrective orthopedic surgeries.

• #7 Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

  https://www.verywellhealth.com/patau-syndrome-trisomy-13-2860981

  Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. […] Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.

• #8 Patau Syndrome – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/P/Patau-Syndrome.html

  Some infants born with Patau syndrome have severe and incurable birth defects. However, children with better prognoses require medical treatment to correct structural abnormalities and associated complications. For feeding problems, special formulas, positions, and techniques may be used. Tube feeding or the placement of a gastric tube (gastrostomy) may be required. Structural abnormalities such as cleft lip and cleft palate can be corrected through surgery. Special diets, hearing aids, and vision aids can be used to mitigate some symptoms of Patau syndrome. Physical therapy, speech therapy, and other types of developmental therapy help the child reach his or her potential. […] Since the translocation form of Patau syndrome is genetically transmitted, genetic counseling for the parents should be part of the management of the disease.

• #9 Patau Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/26721

  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. Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. Other surgeries may be indicated for common defects including herniorrhaphy, cleft lip repair, feeding tube placement, or corrective orthopedic surgeries. […] Additional treatments may be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary tract infections, and the use of hearing aids. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.

• #10 Patau Syndrome – StatPearls – NCBI Bookshelf

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

  Additional treatments may be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary tract infections, and the use of hearing aids. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.

• #11 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Treating Patau syndrome, a genetic disorder with a generally poor outlook, is often a topic of debate, as its uncertain whether intensive treatment can significantly improve the patients prognosis. […] At birth, babies diagnosed with Patau syndrome may need additional oxygen and help with breathing, which might involve a procedure to open the airway (intubation) or creating an opening in the neck to the windpipe (tracheostomy) due to facial abnormalities. If the baby has heart defects, they might need heart surgery to fix them. There could also be a need for other surgeries to fix common issues such as hernias, cleft lip, difficulties with feeding, or problems with bones and joints. […] Furthermore, the newborn might need special nutritional care, concurrent medications to prevent seizures, prophylactic antibiotics to guard against urinary tract infections, and possibly the use of hearing aids.

• #12 Patau’s syndrome

  https://health-shared.com/topics/pataus-syndrome-1533698870291

  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.

• #13 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.

• #14 Trisomy 13 | Causes, Types, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/trisomy-13

  There are no treatments or cures for the extra chromosome that causes trisomy 13. Treatment for babies and children with trisomy 13 is focused on the symptoms they have. […] After learning about the diagnosis of trisomy 13, families can choose to continue or to end their pregnancy. […] For those who continue the pregnancy, parents often consider what quality of life means to them and what treatment options would best support this. Some of these treatments might include surgeries, medicines, breathing machines, and feeding tubes. […] 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.

• #15

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

  In many cases, Pataus syndrome is a life-limiting condition and survival rates are low. There is no way to cure this condition. […] 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. […] Depending on your baby’s 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.

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

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

  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: […] Medical interventions: Surgical repair of congenital heart defects or other structural abnormalities may be required. Medical specialists will address other specific medical concerns, such as feeding difficulties, seizures, or respiratory issues. […] Developmental support: Early intervention programs, occupational therapy, physical therapy, and speech therapy can help optimize the development and quality of life of individuals with Patau syndrome. […] 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.

• #17 Patau Syndrome: Symptoms, Causes & Treatment – Tua Saúde

  https://www.tuasaude.com/en/patau-syndrome/

  Treatment in babies with Patau syndrome is primarily aimed at relieving uncomfortable symptoms and facilitating optimal feeding. […] Shortly after birth, some babies with Patau syndrome may require oxygenation and ventilation, which can be done through intubation or a tracheostomy. […] For babies with heart defects, the pediatrician may recommend reconstructive surgery. Other surgeries that the doctor may also recommend include herniorrhaphy, repair of cleft lips and palate, placement of a feeding tube, or corrective orthopedic surgeries. […] Some targeted treatments that are common with this syndrome include specialized diet plans, physical therapy, occupational therapy, speech therapy, the use of medications to treat seizures and urinary tract infections and the use of hearing aids.

• #18 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.

• #19 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/msdhsite/index.cfm/41,23433,285,980,html

  Although there is no cure for Trisomy 13, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family. Initial treatment focuses on stabilization and survival. Some families may opt to focus on palliative or hospice care. Treatment may include surgical procedures, depending upon the nature and severity of the abnormalities and associated symptoms as well as the joint decision of families and medical professionals. Surgeries may be postponed until after the first few months of life due to the increased risk of early death associated with Trisomy 13. […] Children with Trisomy 13 who are less medically fragile may receive more developmental services including physical therapy, medical, and social services to maximize their functioning and provide the best quality of life possible. Families of children diagnosed with Trisomy 13 may also benefit from genetic counseling.

• #20 Trisomy 13: Symptoms, Diagnosis, Treatment

  https://www.webmd.com/children/trisomy-13

  There’s no cure for trisomy 13. Treatment depends on what kind of symptoms your child has. It might include: […] Medications to ease symptoms […] Physical, speech, or behavior therapy […] Surgery for physical issues […] Support with education. […] But there are treatments, including surgery and therapy, that focus on easing symptoms and providing comfort to your baby.

• #21 Palms Allied Health – Patau Syndrome (Trisomy 13)

  https://www.palmsphysiotherapy.com.au/condition-library/syndromes-congenital-disabilities/patau-syndrome-trisomy-13

  Palms Physiotherapy Allied Health provides specialized therapy for individuals with Patau Syndrome (Trisomy 13), offering physiotherapy, occupational therapy, speech therapy, and exercise physiology to improve quality of life. […] At Palms Physiotherapy Allied Health, we offer comprehensive, multi-disciplinary care for individuals diagnosed with Patau Syndrome (Trisomy 13). Our team of physiotherapists, occupational therapists, speech therapists, and exercise physiologists works together to provide personalized treatment plans aimed at managing symptoms and improving quality of life. […] There is no cure for Patau Syndrome, but early intervention through therapies like physiotherapy, speech therapy, and occupational therapy can improve quality of life and help manage symptoms. […] Physiotherapy helps to improve mobility, muscle strength, and flexibility. It aims to support functional independence and prevent complications such as joint contractures.

• #22 Palms Allied Health – Patau Syndrome (Trisomy 13)

  https://www.palmsphysiotherapy.com.au/condition-library/syndromes-congenital-disabilities/patau-syndrome-trisomy-13

  Occupational therapy focuses on supporting individuals in completing daily tasks like eating, dressing, and self-care. We also use adaptive tools and provide strategies to improve independence and reduce stress. […] Speech therapy focuses on improving speech, language, and feeding skills. For individuals with swallowing difficulties, therapy may include safe swallowing techniques to reduce the risk of aspiration.

• #23 Patau Syndrome (Trisomy 13) | Anthroholic

  https://anthroholic.com/patau-syndrome-trisomy-13?srsltid=AfmBOooiVAJKUvThQa2jOB-petBg5u_7QZJ_K45wUB1KlIVV9rMmcw-x

  Patau syndrome has no cure; instead, treatment revolves around managing the symptoms and improving the quality of life for the individual. Interventions can be broad and often involve a multidisciplinary team of healthcare professionals. […] Medical Management: This can include surgeries for heart defects, respiratory support for breathing difficulties, and medications to manage seizures. […] Therapies: Physical, occupational, and speech therapy can assist with developmental issues.

• #24 Trisomy 13: Symptoms, Diagnosis, Treatment

  https://www.webmd.com/children/trisomy-13

  There’s no cure for trisomy 13. Treatment depends on what kind of symptoms your child has. It might include: […] Medications to ease symptoms […] Physical, speech, or behavior therapy […] Surgery for physical issues […] Support with education. […] But there are treatments, including surgery and therapy, that focus on easing symptoms and providing comfort to your baby.

• #25 Palms Allied Health – Patau Syndrome (Trisomy 13)

  https://www.palmsphysiotherapy.com.au/condition-library/syndromes-congenital-disabilities/patau-syndrome-trisomy-13

  Occupational therapy focuses on supporting individuals in completing daily tasks like eating, dressing, and self-care. We also use adaptive tools and provide strategies to improve independence and reduce stress. […] Speech therapy focuses on improving speech, language, and feeding skills. For individuals with swallowing difficulties, therapy may include safe swallowing techniques to reduce the risk of aspiration.

• #26 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Trisomy 13 requires immediate and long-term treatment after your baby is born to alleviate any symptoms associated with the condition. Treatment for children born with trisomy includes: […] Educational support. […] Medicines to reduce symptoms. […] Speech, behavioral and physical therapy. […] Surgery to repair any physical abnormalities.

• #27 Trisomy 13 (also known as Patau syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy13.html

  Parents of a baby with Trisomy 13 face many difficult decisions regarding the care of their child. Babies will be given comfort care, and 80% will not survive past the first month of life. Most will not live past the first week, regardless of medical intervention. […] A few children are less severely affected and will overcome many of the difficulties; those babies should receive regular childcare visits for immunizations and anticipatory guidance, with screening at frequent intervals for vision and hearing difficulties, scoliosis, developmental delays, and symptoms of other conditions that can be treated. […] Virtually all the 5% of children who survive past the first year will exhibit developmental and growth delays. Early intervention programs and special education will be very important to the relatively small number of children with trisomy 13 who survive the difficult early months.

• #28 Patau Syndrome: Symptoms, Causes & Treatment – Tua Saúde

  https://www.tuasaude.com/en/patau-syndrome/

  Treatment in babies with Patau syndrome is primarily aimed at relieving uncomfortable symptoms and facilitating optimal feeding. […] Shortly after birth, some babies with Patau syndrome may require oxygenation and ventilation, which can be done through intubation or a tracheostomy. […] For babies with heart defects, the pediatrician may recommend reconstructive surgery. Other surgeries that the doctor may also recommend include herniorrhaphy, repair of cleft lips and palate, placement of a feeding tube, or corrective orthopedic surgeries. […] Some targeted treatments that are common with this syndrome include specialized diet plans, physical therapy, occupational therapy, speech therapy, the use of medications to treat seizures and urinary tract infections and the use of hearing aids.

• #29 Trisomy 18 and 13 | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/trisomy-18-and-13

  There is no cure for trisomies 18 and 13 at this time. Treatment is based on support and managing symptoms. In fact, many babies born with these disorders may not live beyond the first few days or weeks of life. It is important to discuss whether to use life support measures or other medical procedures. […] Decisions surrounding the care of infants with trisomy 18 and 13 are difficult and personal. Your doctors at Boston Children’s can connect you with resources available to provide support and help your during this time, including early intervention services, social workers, the Department of Spiritual Care (chaplaincy), and genetic counselors.

• #30 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.”

• #31 Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology

  https://www.nature.com/articles/s41372-018-0151-6

  Trisomy 13 and 18 (also known as Patau syndrome and Edwards syndrome, respectively) were for many years considered lethal disorders, and medical interventions beyond comfort measures were generally not offered. […] Evidence from recent years shows that some children with trisomy 13 or 18 are able to live for years at home after medical and/or surgical intervention (including cardiac surgery, respiratory support, gastrostomy tubes, etc.), with case reports of individuals living for more than a decade. […] In this essay, we present an overview of arguments for and against offering medical and surgical interventions for patients with trisomy 13 or 18, and describe a process by which the staff of a medical center can review their approach and develop a clear, coherent, and fair policy. […] We suggest that patients with trisomy 13 or 18 should be managed as all others in the neonatal intensive care unit, with treatments offered or provided based upon an understanding of the most recent prognostic data, as well as relevant ethical considerations, and an understanding that parental preference, while not determinative in all cases, should be respected.

• #32 What is 13-trisomy (Pato syndrome)? What is prenatal diagnosis and what are the disadvantagesLogical problemsPercentage of patients in their early 30s | (EN)

  https://www.hiro-clinic.or.jp/nipt/patau-syndrome/?lang=en

• #33 What is 13-trisomy (Pato syndrome)? What is prenatal diagnosis and what are the disadvantagesLogical problemsPercentage of patients in their early 30s | (EN)

  https://www.hiro-clinic.or.jp/nipt/patau-syndrome/?lang=en

• #34 Patau Syndrome – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/P/Patau-Syndrome.html

  Some infants born with Patau syndrome have severe and incurable birth defects. However, children with better prognoses require medical treatment to correct structural abnormalities and associated complications. For feeding problems, special formulas, positions, and techniques may be used. Tube feeding or the placement of a gastric tube (gastrostomy) may be required. Structural abnormalities such as cleft lip and cleft palate can be corrected through surgery. Special diets, hearing aids, and vision aids can be used to mitigate some symptoms of Patau syndrome. Physical therapy, speech therapy, and other types of developmental therapy help the child reach his or her potential. […] Since the translocation form of Patau syndrome is genetically transmitted, genetic counseling for the parents should be part of the management of the disease.

• #35 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook

  https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome

  Often, the condition is so severe that babies who survive being born are treated with comfort care. But treatment for Edwards syndrome (trisomy 18) is unique for each child, based on the severity of their diagnosis. Theres no cure for Edwards syndrome (trisomy 18). […] Treatment for Edwards syndrome (trisomy 18) might include: […] Cardiac treatment: Heart problems affect nearly all cases of Edwards syndrome (trisomy 18). Not all babies with cardiac problems due to Edwards syndrome (trisomy 18) are eligible for surgery, but some might be. […] Assisted feeding: Children diagnosed with Edwards syndrome (trisomy 18) can have problems eating normally due to delayed physical growth. A feeding tube might be necessary to address early feeding problems after your child is born. […] Orthopaedic treatment: Children diagnosed with Edwards syndrome (trisomy 18) may have spinal problems like scoliosis, which could impact how your child moves. Orthopaedic treatment could involve bracing or surgery. […] Psychosocial support: Support is available to you, your family and your child diagnosed with Edwards syndrome (trisomy 18), especially to help cope with the loss of your child or help you navigate your childs complex diagnosis.

• #36 An infant with patau syndrome associated with congenital heart defects

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9422041/

  This report discusses a case of a male infant, two days old diagnosed with Patau syndrome. […] The patient was managed according and was referred to a surgeon for pulmonary binding, PDA ligation, VSD closure, and repair of ASA with disbanding of the pulmonary artery. […] The treatment options for Patau syndrome with congenital heart defects include oxygenation, the use of medications, repair of cardiac abnormalities, feeding tube placement, Herniorrhaphy, and cleft lip corrective orthopedic procedures. […] Despite rigorous management, median survival in the most recent cohorts of patients is only 733 days. […] The current mainstay of treatment for Patau syndrome includes the supply of oxygen, medications, cardiac surgeries, and customized dietary feeds. […] Genetic counseling might be advantageous in gaining a better understanding of the diagnosis and its consequences and also in helping families in making difficult choices about future care and family planning.

• #37 Patau Syndrome: Symptoms, Causes & Treatment – Tua Saúde

  https://www.tuasaude.com/en/patau-syndrome/

  Treatment in babies with Patau syndrome is primarily aimed at relieving uncomfortable symptoms and facilitating optimal feeding. […] Shortly after birth, some babies with Patau syndrome may require oxygenation and ventilation, which can be done through intubation or a tracheostomy. […] For babies with heart defects, the pediatrician may recommend reconstructive surgery. Other surgeries that the doctor may also recommend include herniorrhaphy, repair of cleft lips and palate, placement of a feeding tube, or corrective orthopedic surgeries. […] Some targeted treatments that are common with this syndrome include specialized diet plans, physical therapy, occupational therapy, speech therapy, the use of medications to treat seizures and urinary tract infections and the use of hearing aids.

• #38 Patau Syndrome | PPT

  https://www.slideshare.net/slideshow/patau-syndrome-86902031/86902031

  Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. […] While there is no cure, treatment aims to address symptoms through surgery, feeding tubes, and therapies. […] There is no cure for Patau syndrome. However, following measures maybe taken to fix the symptoms: Surgeries Tube fed Occupational, physical and speech therapy. […] More than 80% of patients do not survive beyond the first month of their lives. Over 80% of sufferers do not live for more than the first year of their life. […] She had her cleft lip repaired at 7 months old. At about a year and some she had her palate repaired. […] She started in home physio therapy and in home occupational therapy. […] While there is no cure, treatment focuses on surgery and therapy to address symptoms.

• #39 Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

  https://www.verywellhealth.com/patau-syndrome-trisomy-13-2860981

  Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. […] Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.

• #40 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook

  https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome

  Often, the condition is so severe that babies who survive being born are treated with comfort care. But treatment for Edwards syndrome (trisomy 18) is unique for each child, based on the severity of their diagnosis. Theres no cure for Edwards syndrome (trisomy 18). […] Treatment for Edwards syndrome (trisomy 18) might include: […] Cardiac treatment: Heart problems affect nearly all cases of Edwards syndrome (trisomy 18). Not all babies with cardiac problems due to Edwards syndrome (trisomy 18) are eligible for surgery, but some might be. […] Assisted feeding: Children diagnosed with Edwards syndrome (trisomy 18) can have problems eating normally due to delayed physical growth. A feeding tube might be necessary to address early feeding problems after your child is born. […] Orthopaedic treatment: Children diagnosed with Edwards syndrome (trisomy 18) may have spinal problems like scoliosis, which could impact how your child moves. Orthopaedic treatment could involve bracing or surgery. […] Psychosocial support: Support is available to you, your family and your child diagnosed with Edwards syndrome (trisomy 18), especially to help cope with the loss of your child or help you navigate your childs complex diagnosis.

• #41 Patau’s syndrome

  https://health-shared.com/topics/pataus-syndrome-1533698870291

  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.

• #42 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.

• #43 Patau’s syndrome

  https://health-shared.com/topics/pataus-syndrome-1533698870291

  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.

• #44 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=AfmBOor3M9WPMesdqSo9cbfZvR9b93H0qN4J0eMzagL58Hnhsck0dl3u

  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.

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

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

  Tocolysis (medical management to reduce uterine contractions) in an effort to prevent preterm birth is not a reasonable option due to the lethal nature of this condition. […] 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. […] Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurologic and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival. […] 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.

• #46 An infant with patau syndrome associated with congenital heart defects

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9422041/

  This report discusses a case of a male infant, two days old diagnosed with Patau syndrome. […] The patient was managed according and was referred to a surgeon for pulmonary binding, PDA ligation, VSD closure, and repair of ASA with disbanding of the pulmonary artery. […] The treatment options for Patau syndrome with congenital heart defects include oxygenation, the use of medications, repair of cardiac abnormalities, feeding tube placement, Herniorrhaphy, and cleft lip corrective orthopedic procedures. […] Despite rigorous management, median survival in the most recent cohorts of patients is only 733 days. […] The current mainstay of treatment for Patau syndrome includes the supply of oxygen, medications, cardiac surgeries, and customized dietary feeds. […] Genetic counseling might be advantageous in gaining a better understanding of the diagnosis and its consequences and also in helping families in making difficult choices about future care and family planning.

• #47 What is trisomy 13 or Patau syndrome?

  https://raisingchildren.net.au/guides/a-z-health-reference/trisomy-13

  Theres no cure for trisomy 13, or Patau syndrome. […] When babies are born with trisomy 13, 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. […] The following professionals might also be able to help you before and after your child is born: clinical geneticist, occupational therapist, neonatologist, paediatrician, palliative care specialist, physiotherapist, speech pathologist. […] The National Disability Insurance Scheme (NDIS) might support your child with trisomy 13, as well as you and your family.

• #48 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. […] 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.

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

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

  Tocolysis (medical management to reduce uterine contractions) in an effort to prevent preterm birth is not a reasonable option due to the lethal nature of this condition. […] 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. […] Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurologic and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival. […] 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.

• #50 Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology

  https://www.nature.com/articles/s41372-018-0151-6

  Trisomy 13 and 18 (also known as Patau syndrome and Edwards syndrome, respectively) were for many years considered lethal disorders, and medical interventions beyond comfort measures were generally not offered. […] Evidence from recent years shows that some children with trisomy 13 or 18 are able to live for years at home after medical and/or surgical intervention (including cardiac surgery, respiratory support, gastrostomy tubes, etc.), with case reports of individuals living for more than a decade. […] In this essay, we present an overview of arguments for and against offering medical and surgical interventions for patients with trisomy 13 or 18, and describe a process by which the staff of a medical center can review their approach and develop a clear, coherent, and fair policy. […] We suggest that patients with trisomy 13 or 18 should be managed as all others in the neonatal intensive care unit, with treatments offered or provided based upon an understanding of the most recent prognostic data, as well as relevant ethical considerations, and an understanding that parental preference, while not determinative in all cases, should be respected.

• #51 Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology

  https://www.nature.com/articles/s41372-018-0151-6

  Over the past century in the United States, attitudes toward those with intellectual and physical disabilities have shifted towards greater acceptance, with increased valuation of their lives. […] The provision of life-saving medical and surgical intervention for infants with trisomy 21 has evolved since the 1970s, when it was often considered ethically permissible to forego interventions such as duodenal atresia repair due to the known long-term disability. […] The right of parents to make medical decisions on behalf of their children, while not absolute, is generally perceived to be far-reaching. […] This right provides a major justification for providing them with all medically indicated options, as their ability to make decisions can be compromised if limitations are placed on the choices offered by the medical team.

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

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

  Tocolysis (medical management to reduce uterine contractions) in an effort to prevent preterm birth is not a reasonable option due to the lethal nature of this condition. […] 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. […] Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurologic and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival. […] 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.

• #53 Patau Syndrome: Symptoms, Causes, Treatment | DW

  https://www.disabled-world.com/disability/types/patau-syndrome.php

  Treatment of children with Patau syndrome involves planning on a case-by-case basis. The forms of treatment a particular person receives are dependent upon the person’s particular condition. Intervention through surgical means is commonly withheld for the first few months of the person’s life due to the high mortality rate of children with Patau syndrome. […] Both parents and healthcare workers have to weigh decisions concerning extraordinary life-prolonging measures against the severity of the physical and neurological defects the child is experiencing and the likelihood of the child’s post-surgical recovery or prolonged survival. […] Patau syndrome involves many abnormalities that are not compatible with life. More than eighty percent of infants with the syndrome do not live past their first month. Complications due to the syndrome start nearly immediately, with many infants experiencing heart disease. Complications of Patau syndrome can include feeding problems, breathing difficulties or lack of breathing, deafness, heart failure, seizures, and vision problems.

• #54 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

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

  Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis. […] Surgical interventions in Patau syndrome are generally withheld for the first few months of life because of the high mortality rates of babies with the condition. Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurologic and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival.

• #55 Trisomy 13 | Causes, Types, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/trisomy-13

  There are no treatments or cures for the extra chromosome that causes trisomy 13. Treatment for babies and children with trisomy 13 is focused on the symptoms they have. […] After learning about the diagnosis of trisomy 13, families can choose to continue or to end their pregnancy. […] For those who continue the pregnancy, parents often consider what quality of life means to them and what treatment options would best support this. Some of these treatments might include surgeries, medicines, breathing machines, and feeding tubes. […] 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.

• #56 Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology

  https://www.nature.com/articles/s41372-018-0151-6

  Recent outcome data suggesting that interventions such as cardiac repair may in fact prolong life and improve quality of life should inform our discussions with family, as well as our willingness to offer and perform such procedures. […] The infants right to receive medical care that could prevent or treat suffering should play a significant role in the decision-making process, especially with less invasive interventions such as nasal cannula, nasogastric feedings, and medications to treat reflux, apnea, or seizures. […] If for a given patient a treatment is permissible, even if inadvisable, then parents should be given the choice.

• #57 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. […] 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.

• #58 Trisomy 13 (also known as Patau syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy13.html

  Parents of a baby with Trisomy 13 face many difficult decisions regarding the care of their child. Babies will be given comfort care, and 80% will not survive past the first month of life. Most will not live past the first week, regardless of medical intervention. […] A few children are less severely affected and will overcome many of the difficulties; those babies should receive regular childcare visits for immunizations and anticipatory guidance, with screening at frequent intervals for vision and hearing difficulties, scoliosis, developmental delays, and symptoms of other conditions that can be treated. […] Virtually all the 5% of children who survive past the first year will exhibit developmental and growth delays. Early intervention programs and special education will be very important to the relatively small number of children with trisomy 13 who survive the difficult early months.

• #59 Patau Syndrome | PPT

  https://www.slideshare.net/slideshow/patau-syndrome-86902031/86902031

  Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. […] While there is no cure, treatment aims to address symptoms through surgery, feeding tubes, and therapies. […] There is no cure for Patau syndrome. However, following measures maybe taken to fix the symptoms: Surgeries Tube fed Occupational, physical and speech therapy. […] More than 80% of patients do not survive beyond the first month of their lives. Over 80% of sufferers do not live for more than the first year of their life. […] She had her cleft lip repaired at 7 months old. At about a year and some she had her palate repaired. […] She started in home physio therapy and in home occupational therapy. […] While there is no cure, treatment focuses on surgery and therapy to address symptoms.

• #60 Patau Syndrome – StatPearls – NCBI Bookshelf

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

  Additional treatments may be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary tract infections, and the use of hearing aids. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.

• #61 Patau Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/26721

  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. Patients with cardiac defects may require cardiac surgery to repair common cardiac abnormalities. Other surgeries may be indicated for common defects including herniorrhaphy, cleft lip repair, feeding tube placement, or corrective orthopedic surgeries. […] Additional treatments may be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary tract infections, and the use of hearing aids. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.

• #62 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Even with the most aggressive management, the average life span for patients with Patau syndrome tends to be about two years. […] Patau Syndrome is treated through a combination of interventions and treatments. Babies diagnosed with Patau Syndrome may require additional oxygen and assistance with breathing, which can involve procedures like intubation or tracheostomy. If there are heart defects present, heart surgery may be necessary. Other surgeries may be needed to address issues such as hernias, cleft lip, feeding difficulties, or problems with bones and joints. Special nutritional care, medications to prevent seizures, prophylactic antibiotics, and hearing aids may also be necessary. However, even with aggressive management, the average life span for patients with Patau Syndrome is typically around two years.

• #63 Patau Syndrome – StatPearls – NCBI Bookshelf

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

  Additional treatments may be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary tract infections, and the use of hearing aids. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.

• #64

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

  Patau syndrome is a life-threatening condition attributed to a rise in the number of spontaneous abortions and a poor prognosis for surviving births with the majority dying within the first few days after birth. […] Nonetheless, no apparent relationship exists between mosaicism level, phenotypic severity, and possible survival at birth. […] We believe that the lack of significant brain and cardiac abnormalities and aggressive medical care contributed to our patient’s long survival. […] This case highlights the significant disabilities that can be expected from a child with Patau syndrome with long survival. In addition, physicians should be aware that long-term survival is possible in cases where there are no serious important organ defects. 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.

• #65 Patau Syndrome – StatPearls – NCBI Bookshelf

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

  Additional treatments may be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary tract infections, and the use of hearing aids. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.

• #66

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

  Patau syndrome is a life-threatening condition attributed to a rise in the number of spontaneous abortions and a poor prognosis for surviving births with the majority dying within the first few days after birth. […] Nonetheless, no apparent relationship exists between mosaicism level, phenotypic severity, and possible survival at birth. […] We believe that the lack of significant brain and cardiac abnormalities and aggressive medical care contributed to our patient’s long survival. […] This case highlights the significant disabilities that can be expected from a child with Patau syndrome with long survival. In addition, physicians should be aware that long-term survival is possible in cases where there are no serious important organ defects. 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.

• #67 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.”

• #68 Patau syndrome | EBSCO Research Starters

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

  Diagnosis typically occurs at birth based on visible symptoms, though genetic testing is essential for confirmation. […] While treatment is tailored to the specific needs of the child, it often focuses on comfort and addressing immediate health issues, such as surgical interventions for heart defects. […] Surgery may be performed to repair heart defects or cleft lip and palate. In 2017 researchers from Stanford University and the University of Arkansas published the results of a study conducted between 2004 and 2015 on almost 1,600 patients affected by trisomy 13 or trisomy 18. The study determined that early surgical intervention to repair heart issues present in patients with Patau syndrome as well as trisomy 18 showed extended lifespans of at least one to two years. […] 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. […] Nelson, Hexem, and Feudtner’s study indicates that children born with Patau syndrome are surviving for increasingly longer periods and that neonatal interventions may improve survival rates.

• #69 Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology

  https://www.nature.com/articles/s41372-018-0151-6

  Trisomy 13 and 18 (also known as Patau syndrome and Edwards syndrome, respectively) were for many years considered lethal disorders, and medical interventions beyond comfort measures were generally not offered. […] Evidence from recent years shows that some children with trisomy 13 or 18 are able to live for years at home after medical and/or surgical intervention (including cardiac surgery, respiratory support, gastrostomy tubes, etc.), with case reports of individuals living for more than a decade. […] In this essay, we present an overview of arguments for and against offering medical and surgical interventions for patients with trisomy 13 or 18, and describe a process by which the staff of a medical center can review their approach and develop a clear, coherent, and fair policy. […] We suggest that patients with trisomy 13 or 18 should be managed as all others in the neonatal intensive care unit, with treatments offered or provided based upon an understanding of the most recent prognostic data, as well as relevant ethical considerations, and an understanding that parental preference, while not determinative in all cases, should be respected.

• #70 Trisomy 13 – EyeWiki

  https://eyewiki.org/Trisomy_13

  Given the limited life expectancy for most patients with trisomy 13, aggressive medical and surgical ophthalmic care has generally not been advised and palliative/supportive care options are preferred. […] However, for patients with better prognoses and eye conditions amenable to medical or surgical intervention, treatments may be considered. […] More recent trends suggest more active medical and surgical management leading to increased survival rates and life expectancy in patients with trisomy 13. […] More aggressive care downstream for other organ systems, including the eye, may also rise in the future. […] However, the American Association for Thoracic Surgery 2023 consensus statement advises individualized treatment plans, particularly for those with congenital heart disease, based on the severity of disease manifestations of the trisomic individual as a whole.

• #71 Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology

  https://www.nature.com/articles/s41372-018-0151-6

  Trisomy 13 and 18 (also known as Patau syndrome and Edwards syndrome, respectively) were for many years considered lethal disorders, and medical interventions beyond comfort measures were generally not offered. […] Evidence from recent years shows that some children with trisomy 13 or 18 are able to live for years at home after medical and/or surgical intervention (including cardiac surgery, respiratory support, gastrostomy tubes, etc.), with case reports of individuals living for more than a decade. […] In this essay, we present an overview of arguments for and against offering medical and surgical interventions for patients with trisomy 13 or 18, and describe a process by which the staff of a medical center can review their approach and develop a clear, coherent, and fair policy. […] We suggest that patients with trisomy 13 or 18 should be managed as all others in the neonatal intensive care unit, with treatments offered or provided based upon an understanding of the most recent prognostic data, as well as relevant ethical considerations, and an understanding that parental preference, while not determinative in all cases, should be respected.

• #72 What is 13-trisomy (Pato syndrome)? What is prenatal diagnosis and what are the disadvantagesLogical problemsPercentage of patients in their early 30s | (EN)

  https://www.hiro-clinic.or.jp/nipt/patau-syndrome/?lang=en

• #73 Trisomy 13 – EyeWiki

  https://eyewiki.org/Trisomy_13

  Given the limited life expectancy for most patients with trisomy 13, aggressive medical and surgical ophthalmic care has generally not been advised and palliative/supportive care options are preferred. […] However, for patients with better prognoses and eye conditions amenable to medical or surgical intervention, treatments may be considered. […] More recent trends suggest more active medical and surgical management leading to increased survival rates and life expectancy in patients with trisomy 13. […] More aggressive care downstream for other organ systems, including the eye, may also rise in the future. […] However, the American Association for Thoracic Surgery 2023 consensus statement advises individualized treatment plans, particularly for those with congenital heart disease, based on the severity of disease manifestations of the trisomic individual as a whole.

• #74 What is 13-trisomy (Pato syndrome)? What is prenatal diagnosis and what are the disadvantagesLogical problemsPercentage of patients in their early 30s | (EN)

  https://www.hiro-clinic.or.jp/nipt/patau-syndrome/?lang=en

• #75 Trisomy 13 – EyeWiki

  https://eyewiki.org/Trisomy_13

  Given the limited life expectancy for most patients with trisomy 13, aggressive medical and surgical ophthalmic care has generally not been advised and palliative/supportive care options are preferred. […] However, for patients with better prognoses and eye conditions amenable to medical or surgical intervention, treatments may be considered. […] More recent trends suggest more active medical and surgical management leading to increased survival rates and life expectancy in patients with trisomy 13. […] More aggressive care downstream for other organ systems, including the eye, may also rise in the future. […] However, the American Association for Thoracic Surgery 2023 consensus statement advises individualized treatment plans, particularly for those with congenital heart disease, based on the severity of disease manifestations of the trisomic individual as a whole.

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

  https://prenataldiagnosis.org/trisomy-13

  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. […] Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to find the best possible care. […] 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.

• #77 Patau syndrome – Wikiwand

  https://www.wikiwand.com/en/articles/Patau_syndrome

  Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives.

• #78 Patau Syndrome: Exploring the Genetics of Trisomy 13 | PEMC of Florida

  https://www.toplinemd.com/pemc-florida/patau-syndrome-exploring-the-genetics-of-trisomy-13/

  Given the complexity of Patau Syndrome and the range of challenges it presents, palliative care plays a significant role in enhancing the quality of life for affected individuals. Palliative care focuses on symptom management, pain relief, and emotional support for both the individual and their families. […] The evolving landscape of treatments, encompassing medical interventions, early intervention programs, and palliative care, highlights the importance of a multidisciplinary and family-centered approach to care.

• #79 Patau syndrome – Wikiwand

  https://www.wikiwand.com/en/articles/Patau_syndrome

  Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives.

• #80 Patau syndrome – Wikiwand

  https://www.wikiwand.com/en/articles/Patau_syndrome

  Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives.

• #81 Patau Syndrome: Exploring the Genetics of Trisomy 13 | PEMC of Florida

  https://www.toplinemd.com/pemc-florida/patau-syndrome-exploring-the-genetics-of-trisomy-13/

  Currently, there is no cure for Patau Syndrome, and treatments primarily focus on managing the symptoms and improving the overall quality of life for affected individuals. The approach to treatment is often multidisciplinary, involving a team of healthcare professionals, including geneticists, pediatricians, cardiologists, and developmental specialists. […] Depending on the severity of the cardiac abnormalities, surgical interventions may be necessary to address congenital heart defects. These interventions aim to enhance the functionality of the heart and improve overall cardiovascular health. […] Early intervention services, such as physical therapy, speech therapy, and occupational therapy, play a crucial role in supporting the developmental needs of individuals with Patau Syndrome. These programs are designed to optimize physical and cognitive development from an early age.

• #82 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.”

• #83 Patau Syndrome: Exploring the Genetics of Trisomy 13 | PEMC of Florida

  https://www.toplinemd.com/pemc-florida/patau-syndrome-exploring-the-genetics-of-trisomy-13/

  Currently, there is no cure for Patau Syndrome, and treatments primarily focus on managing the symptoms and improving the overall quality of life for affected individuals. The approach to treatment is often multidisciplinary, involving a team of healthcare professionals, including geneticists, pediatricians, cardiologists, and developmental specialists. […] Depending on the severity of the cardiac abnormalities, surgical interventions may be necessary to address congenital heart defects. These interventions aim to enhance the functionality of the heart and improve overall cardiovascular health. […] Early intervention services, such as physical therapy, speech therapy, and occupational therapy, play a crucial role in supporting the developmental needs of individuals with Patau Syndrome. These programs are designed to optimize physical and cognitive development from an early age.

• #84 Trisomy 13 (Patau Syndrome): What You Need to Know

  https://www.rupahealth.com/post/trisomy-13-patau-syndrome-what-you-need-to-know

  Supportive therapies help improve daily functioning and development. These therapies can be adjusted as the child grows and their needs change. Common therapies include: Physical therapy: Enhances motor skills and mobility, Occupational therapy: Supports daily living skills, Speech therapy: Improves communication and swallowing, Feeding therapy: Addresses feeding and digestion challenges. […] Long-term care for children with Trisomy 13 requires ongoing monitoring and a collaborative approach involving a team of healthcare providers to manage the child’s health. […] A coordinated care team, which includes pediatricians, cardiologists, neurologists, and therapists, provides comprehensive care. Regular follow-ups and care adjustments help ensure the child receives appropriate treatments and therapies. […] The focus is on providing comfort and support, with decisions tailored to the child’s needs and the family’s preferences.

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