Detection of Genetic Abnormalities in the Fetus

Pregnant women often suffer from worry about the health of their prospective baby. To eradicate this anxiety, an examination is now available to detect early on whether the baby to be born has congenital disabilities or congenital abnormalities.

Examination of genetic abnormalities is generally carried out by mothers who have previously given birth to children with congenital disabilities or have a history of genetic diseases in their families, such as fibrosis, thalassemia, and other cell abnormalities. Thus, it can be known whether their baby has the disease or not.

What can genetic disease tests be carried out by pregnant women?

This is a test to detect chromosomal abnormalities, which causes children to suffer from down syndrome or spina bifida. Amniocentesis is usually done during pregnancy into the second trimester (between the 15th week to the 20th week) or before birth when the baby’s lungs are fully formed.

In this test, the doctor will insert a tiny needle into the abdominal wall until it enters the uterus to take an example of amniotic fluid from the bag that covers the fetus. This liquid is then analyzed in the laboratory to determine whether there is a genetic or chromosomal abnormality. The results of the amniocentesis test can be known two weeks later.

Chorionic villus sampling
This method is more accurate for detecting chromosomal abnormalities, one of which results in Down syndrome. This test method is done in two ways. First is to inject a very flat and small needle into the abdomen of pregnant women to take samples of cells from the placenta called chorionic villi.

The second way is to use a catheter that is inserted through the vagina to the placenta near the uterus to take cell samples. The results of this sample are then analyzed in the laboratory. Chorionic villus sampling (CVS) is usually done early in pregnancy, ie at the 10th week or 12th week. The results of this test are also more accurate and faster.

Blood test
Recently researchers from the University of Hong Kong, China, introduced a blood test technique to identify some abnormalities in congenital diseases in the fetus. This test works by checking fetal DNA in the mother’s blood.

Each test method has its advantages and disadvantages. Consult a doctor before doing this test. Some studies say tests performed on the fetus can cause miscarriage or an increased risk of incomplete limbs being formed. Therefore, seek as much information as possible from your doctor!