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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.\n<\/jats:p>","DOI":"10.1007\/s00404-022-06477-5","type":"journal-article","created":{"date-parts":[[2022,3,13]],"date-time":"2022-03-13T05:02:29Z","timestamp":1647147749000},"page":"825-835","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Antenatal screening for chromosomal abnormalities"],"prefix":"10.1007","volume":"305","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1497-5143","authenticated-orcid":false,"given":"Karl Oliver","family":"Kagan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiri","family":"Sonek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,13]]},"reference":[{"key":"6477_CR1","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1007\/s00404-017-4459-9","volume":"296","author":"KO Kagan","year":"2017","unstructured":"Kagan KO, Sonek J, Wagner P, Hoopmann M (2017) Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities. 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