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NIPT Test - Introduction, Purpose & Test Results Meaning

NIPT Test - Introduction, Purpose & Test Results Meaning

Max Lab

Nov 06, 2023

Advances in medical technology have made it possible for doctors to gain valuable insights into the health of the growing baby. There are various kinds of prenatal tests that help determine the well-being of the fetus as well as the mother. One such prenatal screening test is known as the NIPT test. When one is pregnant, some of the DNA of the fetus gets passed into the mother’s bloodstream, a sample of which is taken to screen the presence of any chromosomal conditions. Although the NIPT test is highly accurate, it is important to remember that it is a screening test. This means the test does not provide the diagnosis of a condition but only indicates the likelihood.

What is the NIPT Test?

NIPT test, also known as Non-Invasive prenatal test, is a blood test that screens for genetic abnormalities in the developing fetus during pregnancy. The NIPT test is typically performed between the 10th and 13th week of gestation. Healthcare practitioners analyze the fetus’ DNA to detect chromosomal abnormalities, which may include conditions such as Down syndrome, Edwards syndrome, and Patau syndrome. Unlike traditional prenatal screening methods, the NIPT test is low risk and non-invasive, which means it doesn't pose any harm to neither the mother nor the fetus.

What Does the NIPT Test Screen For?

The NIPT test does not screen for all conditions and excludes anomalies such as thalassemia, cystic fibrosis, and sickle cell anemia. It primarily screens for the following conditions-

  • Down Syndrome (Trisomy 21)
  • Edwards Syndrome (Trisomy 18)
  • Patau Syndrome (Trisomy 13)
  • Disorders affecting sex chromosomes (X and Y), such as Turner Syndrome

Conditions such as Down Syndrome, Edwards Syndrome and Patau Syndrome are caused by the presence of an extra chromosome, while sex chromosome conditions are usually caused by differences in the usual number of sex chromosomes. However, it is important to remember that the test is only a screening test and a positive NIPT test result would typically be followed by further diagnostic testing to confirm the findings.

When Does One Usually Get The NIPT Test Done?

The NIPT test is usually an optional test and many expectant parents opt for it for their peace of mind. However, one’s healthcare practitioner may also recommend it for certain risky pregnancies. It is commonly recommended under the following circumstances-

  • Late Pregnancy

The test may be recommended for pregnant women who are 35 years of age or older, as the risk of chromosomal abnormalities may increase with age.

  • Previous Pregnancy with Chromosomal Abnormality

If there has been a previous pregnancy with a chromosomal abnormality or a family history of certain conditions, then the NIPT test may be recommended.

  • Ultrasound that Indicates Abnormalities in the Fetus

When the prenatal ultrasound examinations indicate certain abnormalities in the fetus, the test may be suggested to rule out any conditions. 

Determining NIPT Test Results

After the collection of the NIPT test sample, the report typically takes up to two weeks to arrive. The NIPT test report is a comprehensive document that will provide detailed information about the genetic markers and risk percentages. It is essential to go over this report with one’s healthcare provider to ensure that one fully understands the results and their implications. A healthcare provider can help make informed decisions about the next steps in the pregnancy based on the NIPT findings. If the results of the NIPT test indicate low risk or are within the normal range, then no further tests may be recommended. If the test results indicate a higher risk, then further diagnostic tests may be done.

The NIPT test during pregnancy offers a safer, more accurate and less stressful way to assess the baby’s health. It helps in providing the best possible care for both the mother and the developing fetus, ensuring a healthy and happy start to parenthood.

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