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Rare autosomal trisomies on non‐invasive prenatal testing: not as adverse as expected

19 Mar 2019

Abstract excerpt

Genome-wide sequencing of maternal plasma cell-free DNA (cfDNA) enables non-invasive prenatal testing (NIPT) of all 24 chromosomes. An expanded NIPT approach can identify rare autosomal trisomies (RATs). However, this is not without interpretative challenges. More evidence is needed to determine pregnancy outcome in cases of RAT detected by NIPT. Between January 2016 and December 2017, a total of 42 924 maternal...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 30887590
DOI: 10.1002/uog.20264

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