Prenatal Genetic Diagnosis

Prenatal Genetic Diagnosis


A prenatal genetic diagnosis gives expecting parents all the information they need to know about the health of the growing fetus. This is especially important in the case of late pregnancy since there is a greater chance of a fetus developing abnormalities.

Why it’s Done

Genetic abnormalities manifest early. In fact, it can be ascertained whether the unborn baby has any kind of serious abnormality. Late pregnancies have a greater chance of babies being born with down syndrome, hence as a precautionary measure, prenatal genetic testing is advised.

How You Prepare

A good way to prepare for genetic testing is to learn more about genetic disorders. Also, it is advisable to learn about your partner’s medical history, as it plays a significant role in determining the health of the offspring.

Most often, only if both the parents are carriers of a particular health condition, does the child have a greater chance of inheriting it. Genes are either dominant or recessive and prenatal genetic testing helps in assessing the health of the unborn child.

What you can expect

Prenatal genetic testing helps in identifying if the patient is at increased risk and whether or not a pregnancy is affected by a disease.

There are mainly 2 types of prenatal genetic tests:

  • Prenatal Screening Tests – The screening tests are conducted in the first or second trimester. The tests are useful in determining whether the unborn child is more or less likely to have a genetic disorder. If the results indicate an increased risk, the doctor will recommend further tests to confirm the diagnosis.
  • Prenatal Diagnostic Tests – Diagnostic tests are helpful in giving a definitive answer to the initial diagnosis. The tests are advised if the screening indicates an increased risk or the family/medical history puts one at risk of having a baby with a genetic problem.

Results/ Post Procedure

Depending upon the analysis, the results of the testing are usually available within a week. Ones who are tested positive are advised to undergo diagnostic testing.

There are mainly two types of diagnostic tests:

  1. Amniocentesis: It is a safe procedure, performed after 15 weeks of pregnancy. During the procedure, a needle is inserted into the amniotic sac to withdraw a small amount of fluid developing around the baby.
  2. CVS: There is another type of procedure known as Chorionic Villus Sampling (CVS). In this procedure, a sample of the tissue is taken from the placenta. It has two advantages over Amniocentesis:
  • It is performed earlier than amniocentesis, between 10-13 weeks of pregnancy
  • The results are quite often ready a lot sooner than during standard testing.

What Are the Risks?

It is important to take time and discuss the risks and the benefits of knowing the results with your doctor.

Some risks of prenatal tests include:

  • Anxiety
  • Pain
  • Conflicting emotions
  • False positive results

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