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Review
. 2022 Apr;305(4):825-835.
doi: 10.1007/s00404-022-06477-5. Epub 2022 Mar 13.

Antenatal screening for chromosomal abnormalities

Karl Oliver Kagan  1 , Jiri Sonek  2 , Peter Kozlowski  3
Affiliations
Review

Antenatal screening for chromosomal abnormalities

Karl Oliver Kagan et al. Arch Gynecol Obstet. 2022 Apr.

Abstract

Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of changes in the last 50 years. Today, cell-free DNA analysis (cfDNA) is the gold standard in screening for trisomy 21. Despite the advantages that cfDNA offers in screening for common trisomies, it must be recognized that it does not address many other chromosomal disorders and any of the structural fetal anomalies. In the first trimester, the optimal approach is to combine an ultrasound assessment of the fetus, which includes an NT measurement, with cfDNA testing. If fetal structural defects are detected or if the NT thickness is increased, an amniocentesis or a CVS with at least chromosomal microarray should be offered.

Keywords: Cell-free fetal DNA; First trimester screening; Trisomy; Ultrasound.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

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