Table of contents:
- What is trisomy 13 (Patau syndrome)?
- Signs and symptoms of trisomy 13 (Patau's syndrome)
- Your child's risk of having trisomy 13 can increase if you become pregnant at old age
- How is trisomy 13 diagnosed?
Some time ago, the country was shocked by the news of the death of little baby Adam Fabumi at the age of only 7 months due to his illness. Adam Fabumi is known to have Trisomy 13 or what is known as Patau's syndrome. The following is complete information about this rare disease.
What is trisomy 13 (Patau syndrome)?
Trisomy is a chromosomal disorder, in which a person has three copies of a chromosome. In normal, healthy humans, there should only be two copies of chromosomes. Trisomy is a genetic condition. That is, this disorder can only be obtained from parental inheritance.
The chromosomes themselves are marked with numbers. For example, Down syndrome is caused by a cell division disorder on chromosome number 21 (Trisomy 21). Babies with Patau syndrome have an abnormality on the 13th chromosome. That's why Patau's syndrome is also known as trisomy 13.
Patau's syndrome is a rare chromosomal disorder that affects approximately one in every 8,000-12,000 live births. This chromosomal abnormality affects almost all organ systems in the body, which not only hinders the development process of the baby but is also life threatening. Many babies born with trisomy 13 die within days or during their first week of life. Only five to 10 percent of children with this condition survive the first year.
Signs and symptoms of trisomy 13 (Patau's syndrome)
Some of the signs and symptoms that can be seen in babies with trisomy 13 include:
- Small head with a flat forehead.
- The nose is wider and rounder.
- The ears are lowered and can be deformed.
- Eye defects can occur
- Cleft on the lips or roof of the mouth
- Crust of the scalp that is difficult to lose (cutis aplasia)
- Structural problems and brain function
- Congenital heart defects
- Extra fingers and toes (polydactyly)
- The sac that attaches to the stomach in the area of the umbilical cord (omphalocele), which contains several abdominal organs.
- Spina bifida.
- Uterine or testicular abnormalities.
Your child's risk of having trisomy 13 can increase if you become pregnant at old age
As with the risk of birth defects and other abnormalities, the risk of a potential baby to have patau syndrome can increase if the mother is over 30 years of age at pregnancy. a number of studies even report the risk of Patau syndrome is more susceptible to occur in women who are pregnant at the age of 32 years. Even so, the cause-and-effect relationship is not certain.
The risk of a further child to have trisomy 13 also increases if the mother has given birth to a child with Patau's syndrome from a previous pregnancy. However, the probability is low (only about 1 percent).
How is trisomy 13 diagnosed?
Doctors can diagnose trisomy 13 (Patau's syndrome) via routine ultrasound during pregnancy. However, the results of ultrasound screening are not guaranteed to be 100% accurate. The reason is, not all abnormalities can be detected clearly on ultrasound. Moreover, the abnormalities caused by trisomy 13 can be mistaken for other disorders or diseases. Apart from ultrasound, chromosomal abnormalities can also be detected before birth using amniocentesis and techniques chorionic villus sampling (CVS).
To avoid unwanted things, expectant mothers should first undergo genetic testing before planning a pregnancy to detect any potential abnormalities that may occur early.
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