Antenatal screening for chromosomal abnormalities

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.

Automated summary

Cell-free DNA analysis (cfDNA) is now the gold standard in screening for trisomy 21, but it does not cover all chromosomal disorders; in the first trimester, the optimal approach is to combine ultrasound assessment with cfDNA testing.