The current technological advances have brought considerable changes in medicine, allowing medical practitioners to diagnose and treat serious health complications before they progress. One of the latest advances in medicine is the emergence of prenatal diagnosis. This has made it possible for doctors to learn conclusively if a fetus has given genetic defect.

That way, it is possible for the parent to know if their child will be born with defects, allowing them to choose whether to carry the pregnancy to full term or terminate it if the defects are severe. In this article, you will learn about the advances in the prenatal diagnosis of genetic defects.

Commonly Used Techniques for Per-Natal Diagnosis of Defects

Prenatal diagnosis involves many processes, including blood tests, imaging, chromosome analysis, and other genetic tests that assess the baby’s health. Most of these techniques are non-invasive to preserve the health and well-being of the fetus and the mother.

Ultrasound Test

An ultrasound examination involves using a transducer, a hand-held device that generates sound waves to form an image based on the thickness of the body tissues. This technique helps to determine the gestational age of a fetus as well as the level of growth. It also helps to examine the physical structure and fitness of the fetus. So, if the fetus has any hereditary deformities, they will be captured in the image, allowing the appropriate remedial action to be taken immediately.

Chorionic Villus Sampling

This pre-natal diagnosis is carried out when the fetus is between 10 and 13 weeks old. It involves the insertion of a need through the mother’s abdomen or cervix using a tiny tube called a catheter. This method is also done with the help of ultrasound. The doctor removes a small amount of tissue from the placenta and sends it to the lab to test chromosomes and other genetic tests.

Fetal Blood Sampling

Commonly referred to as cordocentesis, fetal blood sampling becomes necessary when the fetus’s blood is needed to evaluate its well-being. If any genetic deformity is detected, certain medications can be prescribed, and fetal blood transfusion can be performed if necessary to rectify the abnormality.


This pre-natal diagnosis enables a doctor to obtain essential details about the fetus from the amniotic fluid. It is typically done after the 15th week of pregnancy. It involves the insertion of a needle through the mother’s abdominal wall into the pocket of amniotic fluid found in the uterus. This fluid is then tested for important details about the fetal chromosomes.

Make sure the medical doctor you seek help from is qualified and experienced in performing these pre-natal diagnosis procedures.