Trisomy 13 is a chromosomal genetic condition associated with physical disabilities and intellectual abnormalities in the human body. The illness is also known as Bartholin-Patau syndrome or Patau's syndrome. Individuals suffering from this form of illness (which is infants in all cases) can have heart defects, brain disorders, spinal cord abnormalities, poorly developed eyes, extra fingers or toes, and weak muscle tone also called hypotonia. Due to such life-threatening issues, many infants with Patau syndrome die within their first days or weeks of life. Only five percent of children with this condition survive. The risk of having a baby born with Patau syndrome relatively increases if the mother's age is on the higher side.
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Patau syndrome/Trisomy 13 occurs when there is an additional copy of chromosome 13 in some or all of the body's cells. Primarily, each cell consists of 23 pairs of chromosomes, which carry inherited genes. But an infant with Patau's syndrome will have 3 copies of chromosome 13, instead of having 2 copies. The extra genetic material impedes the infant’s overall development, causing complex brain malformation and many other problems.
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Causes Of Patau Syndrome
In most cases, the syndrome may not necessarily be an inherited disorder. It can also occur mistakenly during conception when the sperm and egg combine and the foetus start to grow. An error occurs when the cells divide, resulting in an additional copy of chromosome 13, which severely affects the baby's development in the womb. In many cases, the baby dies in the womb or is dead at the time of birth. Another cause of Patau Syndrome is when chromosome 13 becomes attached to another random chromosome during the very early foetal development stage. The affected infant will have two copies of chromosome 13, plus an extra copy of chromosome 13 that is clinging to the chromosome.
Symptoms
Babies born with Patau's syndrome can be seen having the following health problems:
- 7 out of 10 children are born with severe heart anomalies
- The brain often does not divide into 2 halves resulting in complex brain malformation
- It can affect facial features and cause defects in cleft lip and palate
- It causes reduced distance between the eyes also called hypotelorism
- There is a reduced development of the nasal passages
- The size of an infant's head is usually smaller. This condition is called microcephaly
- Malformations of ears and deafness
- Underdeveloped abdomen leading to stomach-related abnormalities
- Several abnormal cysts in the kidneys
Diagnosis Of Patau Syndrome
Pregnancies at increased risk for Patau Syndrome can be identified through prenatal testing, ultrasound examinations, and scans. The diagnosis can be confirmed prenatally with ninety-eight percent accuracy through a test called chorionic villus sampling.
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Treatment And Management Of Patau's Syndrome
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.
Prevention
The only way to prevent the occurrence of this chromosome abnormality is to get timely genetic testing done for parents. A detailed chromosome analysis is done to check if the baby is affected by Patau's syndrome which may have happened by an abrupt chromosomal translocation.
Moreover, Genetic testing is also carried out to help parents plan future pregnancies as part of the decision-making process. The test results will allow a more precise assessment to be made of the likelihood of the syndrome affecting future pregnancies.
