Glossary

Term · Pregnancy: Your Body

NIPT

Also: noninvasive prenatal testing

A blood test in pregnancy that looks for small pieces of DNA, mostly from the placenta, in the mother's blood to screen for some chromosome conditions. It is a screen, not a diagnosis.

In plain words

NIPT stands for noninvasive prenatal testing. A blood sample is drawn from the mother, usually after 10 weeks of pregnancy. The sample contains small fragments of DNA from the placenta, which reflect the baby's genetic material. The test screens for common chromosome conditions, most often trisomy 21, 18, and 13. It can also report the baby's sex and, in some cases, sex chromosome differences. NIPT does not involve a needle near the baby, so it carries no risk of . A positive result is not a diagnosis. A mother will usually be offered a confirmatory test, such as or , before any decisions are made. A negative result lowers the chance of these conditions but does not rule them out.

The deeper version

Cell-free fetal DNA, derived from placental trophoblast, is measured by massively parallel sequencing or targeted methods, with a fetal fraction typically between 4 and 20 percent. Detection rates for trisomy 21 exceed 99 percent with false-positive rates below 0.1 percent in singleton pregnancies (Gil et al., Ultrasound in Obstetrics and Gynecology 2017 meta-analysis). Performance is lower for trisomy 18 and 13, and lower still for microdeletions and rare conditions. Low fetal fraction, maternal malignancy, and vanishing twin can produce no-call or discordant results. ACOG and the Society for (2020 guidance) recommend offering NIPT to all pregnant patients as a screen, with diagnostic testing for confirmation.

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Sources

  • American College of Obstetricians and Gynecologists — Practice Bulletin 226: Screening for fetal chromosomal abnormalities, 2020
  • Gil MM et al. — Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics and Gynecology 2017

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