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Article

Noninvasive Prenatal Testing for Microdeletion Syndromes and Expanded Trisomies

7 Apr 2014

Abstract excerpt

In Brief The identification of circulating cell-free fetal DNA in maternal plasma has led to the introduction of noninvasive prenatal tests with high sensitivity and high specificity for common aneuploidies (trisomy 13, trisomy 18, trisomy 21). A new expanded noninvasive prenatal testing panel that includes five microdeletion syndromes (22q11 deletion syndrome, cri-du-chat [5p minus], Prader Willi or Angelman...

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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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Identifiers

PMID: 24785862
DOI: 10.1097/aog.0000000000000237

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