Detection of Genetic Abnormalities in the Fetus

Pregnant women are often bothered by feeling worried about the health of future babies. To wipe out anxiety, is now already available tests to detect early on whether the baby to be born has a birth defect or congenital abnormality.

Examination of genetic abnormality is generally done by women who previously gave birth to children with birth defects or have a history of genetic disease in their families, such as fibrosis, thalassemia and other cell abnormalities. As such, can know whether their baby is exposed to the disease or not.


What are the tests of genetic diseases that can be done by pregnant women?


Amniocentesis
This is a test to detect chromosomal abnormalities, which causes the child suffering from Down syndrome or spina bifida. Amniocentesis is usually performed during the second trimester of pregnancy (between weeks 15 to week 20) or before birth when the baby's lungs are fully formed.

In this test the doctor will insert a very small needle into the abdominal wall to get into the uterus to sample the amniotic fluid from the sac surrounding the fetus. The fluid is then analyzed in the laboratory to determine whether there is a genetic or chromosomal abnormalities. Amniocentesis test results can be known two weeks later.

Chorionic villus sampling
This method is more accurate to detect chromosomal abnormalities, one of which resulted in down syndrome. Test method is performed in two ways. The first is to inject the needle a very small flat and into the abdomen of pregnant women to take a sample of cells from the placenta called the chorionic villi.

The second way is to use a catheter inserted through the vagina into the uterus near the placenta to take samples of cells. Sample results are then analyzed in the laboratory. Chorionic villus sampling (CVS) is usually performed in early pregnancy, ie at week 10 or week 12. These results are also more accurate and faster.

Blood tests
Recently researchers from the University of Hong Kong, China, introduced the technique of blood tests to identify a number of congenital abnormalities of the disease in the fetus. This test works by examining fetal DNA in maternal blood.

Each test method has advantages and disadvantages of each. Consult a physician before doing this test. Some studies say tests conducted on the fetus can cause miscarriage or an increased risk of failure to fully formed limbs. Therefore, look for lots of information from your doctor!