Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide data on prenatal profiles and detection compared with NIPT

CONCLUSION: As a by-product to screening for trisomies 21, 18, and 13, most triploidies and the majority of atypical SCAs, RATs, and mosaicisms are detected before birth. However, only 23% of pCNVs are high-risk from cFTS and only half are diagnosed before birth. Replacing invasive testing with NIPT for high-risk pregnancies would substantially decrease the first-trimester detection of pathogenic chromosomal anomalies. This article is protected by copyright. All rights reserved.PMID:38642365 | DOI:10.1002/uog.27667

Source: The Ultrasound Review of Obstetrics and Gynecology - April 20, 2024 Category: Radiology Authors: K Gadsb øll I Vogel S E Kristensen L H Pedersen J Hyett Danish Cytogenetic Central Register study group O B Petersen Source Type: research