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Noninvasive prenatal testing

Noninvasive prenatal testing (NIPT), also known as noninvasive prenatal diagnosis (NIPD), is a screening method for detecting certain specific chromosomal abnormalities in a developing baby.

Noninvasive prenatal testing is a sophisticated blood test that examines fetal DNA in the maternal bloodstream to determine whether your baby is at risk of Down syndrome, extra sequences of chromosome 13 (trisomy 13), extra sequences of chromosome 18 (trisomy 18) or a sex chromosome abnormality, such as Turner syndrome. The testing can also be used to determine a rhesus (Rh) blood type.

Currently, noninvasive prenatal testing is only available for women who have certain risk factors.

Noninvasive prenatal testing might help you avoid other tests that might put your pregnancy at risk. Your health care provider or a genetic counselor will discuss whether noninvasive prenatal testing might benefit you.

Why it's done Risks How you prepare What you can expect Results

Noninvasive prenatal testing is much more sensitive and specific than traditional first and second trimester screening. As a result, noninvasive testing can often help women who have certain risk factors avoid invasive testing, such as:

  • Amniocentesis. During this procedure, a small sample of the fluid that surrounds and protects the baby during pregnancy (amniotic fluid) is removed from the uterus for testing.
  • Chorionic villus sampling (CVS). During CVS, a small sample of the wispy projections that are part of the developing placenta (chorionic villi) are removed from the placenta for testing.

Amniocentesis and CVS both carry a slight risk of miscarriage.

Your health care provider might recommend noninvasive prenatal testing first if:

  • You have risk factors for having a baby who has a chromosomal condition. Noninvasive prenatal testing can determine whether your baby is at risk of a chromosomal condition. Risk factors might include older maternal age or having previously given birth to a baby who has Down syndrome, trisomy 13 or trisomy 18. Your health care provider also might recommend noninvasive prenatal testing if you've gotten worrisome results from another prenatal screening test.
  • You're a carrier of an X-linked recessive disorder. X-linked recessive disorders, such as Duchenne's muscular dystrophy or a blood-clotting disorder (hemophilia), typically affect only males. Depending on your test results, a genetic counselor can help you understand the next steps.
  • You have an Rh negative blood type. Noninvasive prenatal testing can determine your baby's Rh factor. If you're Rh negative and your baby is Rh positive, you might produce Rh antibodies after exposure to your baby's red blood cells. This is called becoming sensitized. (This is typically not a concern during a first pregnancy, but can be a concern during subsequent pregnancies.)

While noninvasive prenatal testing is currently recommended for women at high risk of carrying a baby who has a chromosomal abnormality, research is under way to see how it might be helpful for other women. Research is also being done to see what other chromosomal abnormalities and genetic conditions can be detected through this type of testing.

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