Prenatal test for congenital malformations

Upsides and Downsides of Genetic testing
February 10, 2022
Prenatal Diagnosis
Prenatal Diagnosis
February 22, 2022
congenital malformations

The Congenital malformation is a congenital/physical defect that can affect many various sections of the body, such as the brain, heart, lungs, liver, bones, intestinal tract, etc. it can be caused by a genetic disorder or from the consumption of malformed agent like alcohol during pregnancy. Congenital malformation has resulted in an increase in infant mortality in the US and other parts of the world. Some of the examples of congenital malformation include heart defects, Spina bifida, Down syndrome, cleft lip, cleft lip, etc.

congenital malformations

Screening test of infants is done within 24-48 hours after their birth and if the result of the screening test is abnormal doctor might suggest some further diagnostic test to determine any possible birth defect or other problems. These tests are also offered to women who are above the age of 35 years or have a previous history of giving birth to a child with birth defects.

These tests include:

High-resolution ultrasound: this test can create a high-resolution picture of the baby which can be used to look in more detail for any possible birth defect that might have caused abnormal results in the screening test.

congenital malformations

Read more:-X chromosomes in DNA testing

Chorionic Villus Sampling (CVS): This test is used to check for the genetic disorder or abnormal chromosome number in the baby. This test is done by taking a piece of tissue of the placenta via the cervix and using it as a sample to look for genetic defects.

Amniocentesis: This test is done by taking a sample of amniotic fluid from the uterus and then examining it to look for any possible genetic or birth defect in the fetus. This test uses the protein levels present in the sample to determine the possibility of birth defects.

Although these tests can detect most of the birth defects some defects might go unchecked in the Prenatal tests and only show symptoms immediately after birth or later in life.


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