Non-Invasive Prenatal Testing Q&A

As an expectant mother, you likely have many questions about your health and the health of your developing baby. Because you’ve chosen a Women’s Health Connecticut physician, you can feel comfortable knowing that you’ll get the guidance and information you need and access to a high standard of care.

What is the Non-Invasive Prenatal Test?

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

Why take it?

Our chromosomes are made of DNA, and the sequence of the DNA is the code that holds the genetic information that makes us who we are. While healthy humans have 23 pairs of chromosomes, any more or fewer can lead to problems. During pregnancy, some of the baby’s DNA crosses the placenta into the mother’s bloodstream and if there is too much from a certain chromosome, we know that there is an extra one.

Most NIPT screens for three common chromosomal abnormalities, which are among those which can cause serious birth defects, intellectual disability, or other problems. These disorders are not typically inherited and are usually caused by a random error during fertilization of the egg by the sperm, when the mother and father’s chromosomes reshuffle, taking one of each pair from each parent.

What does the Women’s Health NIPT screen for?

  • Down syndrome (Trisomy 21), which is caused by an extra copy of chromosome 21
  • Edwards syndrome (Trisomy 18), which is caused by an extra copy of chromosome 18
  • Patau syndrome (Trisomy 13), which is caused by an extra copy of chromosome 13

What will the results tell me?

If your results are negative, none of the three disorders were detected. A negative test result does not guarantee an unaffected pregnancy. 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.

In the case of an abnormal NIPT, your healthcare provider will offer a diagnostic procedure to 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. This test can also tell you the sex of your baby if you want to know.

What are the indications for use?

Although this test was developed for screening of high-risk patients of older age or with another abnormal test, it is now offered to all patients as the most accurate way to screen for these chromosomal abnormalities. Although it is much more accurate than non-invasive tests of the past, it should be emphasized that it is still a screening test which if positive, needs to be confirmed with other testing (for example, detailed ultrasound, amniocentesis, or chorionic villus sampling) before any recommendations can be made.

Right now, our test is only approved for single babies; not twins or higher multiples. We hope to be able to test for more abnormalities in the future.

Non-invasive prenatal testing is the best available screening for birth defects, allowing parents to consider options and pursue possible medical interventions, and/or begin planning for a child with special needs. 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.