NIPT Test (Noninvasive Prenatal Testing): What To Expect

Did you know that fragments of fetal DNA circulate in the mother's blood, and a test known as Noninvasive Prenatal Testing (NIPT) can detect them? Read on to learn more.

What is NIPT?

NIPT, or Noninvasive Prenatal Testing, is a simple blood test that helps assess the risk of the fetus having certain genetic disorders, including Down syndrome, and can also determine the baby’s gender. 

Fetal DNA fragments circulate in the mother's bloodstream, and this test detects them to assess the likelihood of the baby having a chromosomal disorder, though it does not definitively diagnose the condition.

What Does the NIPT Test Detect?

This test is a safe and effective way to evaluate the risk of the fetus having certain congenital disorders or chromosomal abnormalities, such as:

• Down syndrome.
• Edwards syndrome.
• Patau syndrome.
• Turner syndrome.

Some laboratories also test for the baby’s gender and sex chromosome abnormalities through NIPT. However, it does not screen for genetic disorders such as thalassemia, sickle cell anemia, or cystic fibrosis.

How Does NIPT Determine the Baby's Gender?

As mentioned earlier, fetal DNA fragments are present in the mother’s blood during pregnancy. If the Y chromosome sequence is detected in the blood sample, the baby is male. If it is not detected, the baby is assumed to be female.

Is NIPT Necessary for Every Pregnant Woman?

NIPT is not a mandatory test but a personal choice. However, doctors recommend it in the following cases:

1. A previous test or ultrasound suggests a potential problem.
2. A previous child was born with a chromosomal abnormality.
3. There is a high risk of chromosomal abnormalities due to the mother’s age or other factors.

How is the NIPT Test Done?

The test is very simple and only requires a blood sample to be drawn from the mother's arm. The sample is then analyzed in the laboratory for fetal DNA, known as cell-free DNA (cfDNA), to check for abnormalities.

Once the results are available, the doctor will compare them with first-trimester ultrasound results or the Nuchal Translucency Screening to decide if further testing is needed.

When is NIPT done in pregnancy?

NIPT is usually performed after 10 weeks of pregnancy, as it takes at least 10 weeks for enough fetal DNA to be present in the mother’s blood.

Is the NIPT Test Safe for Pregnant Women?

Yes, NIPT is completely safe for both the mother and the baby, posing no risk to either.

How Accurate is the NIPT Test?

The accuracy of the NIPT test varies depending on the condition being screened for. Factors such as obesity or a twin pregnancy can affect the result.

However, its accuracy in detecting Down syndrome is approximately 99%. The test is less accurate for other disorders.

What Do the Test Results Mean?

Results can take up to two weeks to be available. It is important to note that the NIPT results do not provide a definitive answer about whether the fetus has a chromosomal disorder. Instead, they indicate whether there is an increased or decreased risk.

The NIPT results help the doctor decide the next steps, which may include diagnostic procedures such as:

1. Amniocentesis: Performed after the 15th week, this involves taking a small amount of amniotic fluid from the uterus.
2. Chorionic Villus Sampling (CVS): Usually performed between the 10th and 13th weeks, this involves taking cells from the placenta for analysis.

Expectant mothers can undergo the NIPT test provided by Blazma, which does not require any special preparations.