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Open Access 01-04-2022 | Ultrasound | Review

Antenatal screening for chromosomal abnormalities

Authors: Karl Oliver Kagan, Jiri Sonek, Peter Kozlowski

Published in: Archives of Gynecology and Obstetrics | Issue 4/2022

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.

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Title: Antenatal screening for chromosomal abnormalities
Authors: Karl Oliver Kagan
Jiri Sonek
Peter Kozlowski
Publication date: 01-04-2022
Publisher: Springer Berlin Heidelberg
Keywords: Ultrasound
Chromosomal Abnormality
Trisomy 21
Trisomy
Amniocentesis
Ultrasound
Published in: Archives of Gynecology and Obstetrics / Issue 4/2022
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-022-06477-5

At a glance: The STEP trials

Springer Medicine

Antenatal screening for chromosomal abnormalities

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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