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Prenatal screening for common aneuploidies using cell-free DNA

Glenn E Palomaki, PhD
Geralyn M Messerlian, PhD
Jacquelyn V Halliday, MS
Section Editor
Louise Wilkins-Haug, MD, PhD
Deputy Editor
Vanessa A Barss, MD, FACOG


Prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. Circulating cfDNA is derived from both the mother and the fetal-placenta unit [1-3] and cleared from the maternal circulation soon after delivery [4]. Although this approach is often called "noninvasive prenatal screening" or "noninvasive prenatal testing," these terms are nonspecific, as conventional serum screening is also noninvasive.

The cfDNA test provides excellent performance – 98 to 99 percent of Down syndrome pregnancies are identified prenatally with less than 0.5 percent of women called screen-positive (when screening in the general pregnancy population). However, it is still considered a screening test due to infrequent false-positive and false-negative results. An invasive procedure (eg, amniocentesis or chorionic villus sampling) and subsequent karyotyping is considered the gold standard diagnostic test and is recommended for women who are screen positive by cfDNA testing, particularly those who are considering pregnancy termination.

This topic will discuss prenatal aneuploidy screening via sequencing of cfDNA in maternal plasma. Other issues related to prenatal screening for Down syndrome and other aneuploidies are reviewed separately:

(See "Down syndrome: Overview of prenatal screening".)

(See "First-trimester combined test and integrated tests for screening for Down syndrome and trisomy 18".)

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Literature review current through: Nov 2017. | This topic last updated: Oct 03, 2017.
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