Trisomy 13, also known as Patau Syndrome, is a genetic disorder characterized by the presence of three copies of the 13th chromosome in humans, instead of the usual two copies. Trisomy 13 often occurs as a random event and this extra chromosomal material can cause various developmental and health problems.
Causes of Trisomy 13 Syndrome
The causes of Trisomy 13 are generally:
Full Trisomy 13: The most common condition is the presence of an extra full 13th chromosome in every cell.
Partial Trisomy: In some cases, only a part of the 13th chromosome is present as a third copy.
Mosaic Trisomy 13: In another rare condition, some cells have an extra 13th chromosome while other cells have the normal two copies.
Maternal Age: The likelihood of the occurrence of the nondisjunction event is higher in older mothers, especially those aged 35 and above.
Symptoms of Trisomy 13 Syndrome
Babies born with Trisomy 13 may have the following characteristics and health problems:
- Facial abnormalities
- Neurological problems
- Heart defects
- Skeletal abnormalities
- Kidney problems
- Central nervous system abnormalities
- Respiratory problems
Diagnosis of Trisomy 13 Syndrome
Trisomy 13 syndrome can be diagnosed using various diagnostic tests and procedures:
First Trimester Screening: This is a combination of a blood test and nuchal translucency ultrasound performed in the first three months of pregnancy.
Second Trimester Serum Screening: These screenings measure the levels of alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A.
Amniocentesis: This procedure, usually performed between the 15th and 20th weeks of pregnancy, involves taking a sample of amniotic fluid to examine the baby’s chromosomes.
Chorionic Villus Sampling (CVS): CVS, performed between the 10th and 13th weeks of pregnancy, involves taking a small tissue sample from the placenta for chromosomal analysis.
Physical Examination: After birth, doctors typically look for physical signs specific to Trisomy 13, including facial anomalies, polydactyly, and severe congenital heart defects.
Chromosomal Analysis/Karyotyping: Chromosomal analysis done with a sample taken from the baby’s blood can confirm the presence of an extra 13th chromosome.
Non-invasive Prenatal Test (NIPT): Genetic material analysis from the mother’s blood done in the early stages of pregnancy can assess the risk of chromosomal abnormalities, including Trisomy 13.
Treatment of Trisomy 13 Syndrome
There is no specific treatment for Trisomy 13 syndrome. Treatment involves supportive and symptomatic approaches tailored to the affected individual’s symptoms and health problems:
Nutritional Support: Special feeding plans and, if necessary, the use of feeding tubes for infants with feeding difficulties.
Respiratory Support: Oxygen therapy or other respiratory supports for infants with respiratory distress.
Management of Heart Defects: Medication treatment for congenital heart diseases and, in some cases, surgical intervention.
Surgical Interventions: Surgical procedures may be required to correct certain physical anomalies such as cleft lip and palate.
Pain Management: Use of appropriate analgesics to manage pain or discomfort.
Palliative Care: Most babies born with Trisomy 13 do not have a long life expectancy due to serious health problems.
Genetic Counseling: Families are provided with information about the genetic nature of Trisomy 13 and the risks of recurrence.
Physical and Occupational Therapy: Physical and occupational therapy for children with developmental delays can help improve motor skills and independence in daily activities.
Psychological and Social Support: Psychological counseling for families and support groups are important for discussing the challenges of coping with Trisomy 13 and sharing experiences.
Education and Resources: Families are educated and directed to appropriate resources for the management and care of Trisomy 13 and their children.
Management of Trisomy 13 Syndrome
The management of Trisomy 13 syndrome includes personalized, supportive, and symptomatic treatments based on the specific health problems and symptoms faced by the affected individual:
Multidisciplinary Team Approach: Affected individuals should be evaluated and followed by a team of various healthcare professionals, including pediatricians, geneticists, cardiologists, neurologists, gastroenterologists, nutritionists, physical therapists, and rehabilitation specialists.
Nutrition: Special nutritional support should be provided for feeding difficulties, including tube feeding if necessary.
Respiratory Support: Oxygen therapy or ventilator support can be provided for infants with respiratory distress.
Management of Heart Defects: Medication treatment or surgical intervention may be required for congenital heart diseases.
Pain Management: Analgesics can be used to alleviate pain or discomfort.
Management of Neurological Symptoms: Antiepileptic medications may be prescribed for seizures.
Palliative Care: Palliative care helps maximize the comfort of the child during this challenging time and provides psychological and emotional support to families.
Genetic Counseling: Families are provided with information about the genetic nature of Trisomy 13, the risks of recurrence, and options for future pregnancies.
Psychological and Social Support: Psychological counseling, support groups, and referrals to other resources should be provided to families.
