Viral stories on social media about babies with chromosomal abnormality trisomy 13, provoked a lot of curiosity from the public. Starting from the cause, to the reasons for this condition can cause the baby difficult to survive.
Trisomy means the baby has an excess of chromosomes, which normally only amount to a pair. In trisomy, there are 3 specific chromosomes in the gene. Babies with trisomy 13, also known as Patau Syndrome, have three chromosomes number 13. Conditions that are generally not inherited from this family can occur in 1 in 10,000 babies born. Trisomy 13 is caused by disorders that occur during the process of fetal formation.
In addition to trisomy 13, there are also other conditions of trisomy such as trisomy 18 or Edwards Syndrome which also causes growth and development problems for infants, and trisomy 21 which is better known as Down Syndrome.
Recognizing the Characteristics and Conditions of Trisomy 13
Abnormalities caused by trisomy 13 can range from impaired physical growth to intellectual impairment. These various conditions can then cause complications, such as heart failure, seizures, respiratory problems, vision and hearing problems.
Babies with trisomy 13 are generally born with a birth defect or defect in the form of:
- Brain or spinal cord disorders.
- Congenital heart disease.
- Head smaller than normal size.
- Impaired eye growth / small eye size (microphtalmia).
- The location of the ear is lower than normal.
- Small mandible size (micrognatia).
- Harelip.
- The number of toes or hands are more than normal, with abnormal finger arrangement.
- Weak muscle strength.
- Umbilical or inguinal hernias.
These life-threatening health problems make only 10% of babies born with trisomy 13 survive more than a year old. While most will die within a few weeks or even a few days after birth. Until now there is no cure for the condition of trisomy 13. Handling given is very dependent on the health condition of each baby. Although it is difficult to prevent trisomy 13, there are several tests that can be done to detect and prepare for the birth of a baby with trisomy 13.
Detecting Trisomy 13 During Pregnancy
In general, the initial examination during pregnancy is carried out to determine whether there are genetic abnormalities in the fetus. Blood tests and scans such as ultrasound performed during pregnancy can be an early tool to detect chromosomal abnormalities.
Trisomy 13 can be detected early in pregnancy by examining chromosomes from amniotic cells. This examination is carried out especially for mothers who are at risk of having babies with genetic disorders, for example due to a history of genetic disorders in the family. With this examination, abnormalities can be detected early, so parents are more ready to accept and plan treatment according to doctor's direction.
Parents who have had children with trisomy 13 will need consultation and counseling as well as special examinations before planning their next pregnancy, to minimize the risk of having a baby with the same condition.
Often congenital abnormalities in infants, including trisomy 13, are only discovered after the baby is born. Consult with your doctor for the best detection and treatment during pregnancy. In mothers who are at risk of having a baby with a genetic disorder, it is advisable to examine the fetal chromosome from the womb.
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