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What is the Non-Invasive Prenatal Test (NIPT)?

NIPT is a highly-accurate test that can determine whether your baby may have certain genetic disorders or chromosomal abnormalities, such as Down syndrome, that could affect the baby’s health. The test requires only a blood draw, and is safe for mother and baby. It’s a simple test that can help you plan with confidence.

Why Take It?

During pregnancy, some of the baby’s DNA crosses the placenta into the mother’s bloodstream. DNA is the blueprint of life— within it are chromosomes that hold all the genetic information needed for our bodies to function. While healthy humans have 23 pairs of chromosomes, any more or less can lead to problems.

The NIPT test screens for the most common chromosomal abnormalities, those which can cause serious birth defects, intellectual disability, or other problems in the baby. These disorders are not typically inherited and are usually caused by a random error during formation of the egg or sperm, or during the earliest stages of fetal development.

What Will the Results Tell Me?

If your results are negative, no disorders were detected. In the case of an abnormal result, your healthcare provider will offer a diagnostic procedure to re-confirm the result. Knowledge of a positive result can help you and your medical team plan for appropriate treatment at birth or before. It can also give you time to gather appropriate medical, financial and emotional resources. 

Like all tests, this test has limitations. It can only detect specific chromosomal abnormalities and does not eliminate the possibility of other genetic disorders, birth defects, or health conditions. Although this test is highly accurate, false negative and false positive results are possible in rare cases.

This test can also tell you the sex of your baby, if you want to know.

The Non-Invasive Prenatal Test screens for:

  • Down syndrome (Trisomy 21) - caused by an extra copy of chromosome 21
  • Edwards syndrome (Trisomy 18) - caused by an extra copy of chromosome 18
  • Patau syndrome (Trisomy 13) - caused by an extra copy of chromosome 13
  • The test can also detect abnormalities of the sex chromosomes:
  • Turner syndrome (Monosomy X) - caused by a missing X chromosome in females
  • Klinefelter syndrome (XXY) - caused by an extra X chromosome in males
  • Jacobs syndrome (XYY) - caused by an extra Y chromosome in males
  • Triple X syndrome (XXX) - caused by an extra X chromosome in females
Who should Receive NIPT?

NIPT is currently recommended for:

  • Women who have previously had a baby with a genetic disorder
  • Women 35 years or older
  • Women at high risk for a baby with genetic abnormality based on their first trimester screening results or, with family history of these genetic disorders
  • Patient request
When can I be tested?

You can be tested at 10 weeks of pregnancy, or any time after that.

Peace of Mind for Patients

If you need additional support in making these decisions, we can refer you to a genetic counselor.  These health care professionals are experienced in helping families understand birth defects - providing information to help with decisions about pregnancy, child care, genetic testing and genetic disorder heredity.

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