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Replacing the Combined Test by Cell-Free DNA Testing in Screening for Trisomies 21, 18 and 13: Impact on the Diagnosis of Other Chromosomal Abnormalities

1 Jan 2014

Abstract excerpt

OBJECTIVE: To estimate the proportion of other chromosomal abnormalities that could be missed if combined testing was replaced by cell-free (cf) DNA testing as the method of screening for trisomies 21, 18 and 13. METHODS: The prevalence of trisomies 21, 18 or 13, sex chromosome aneuploidies, triploidy and other chromosomal abnormalities was examined in pregnancies undergoing first-trimester combined screening and...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 24525399
DOI: 10.1159/000358388

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