Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing

Abstract excerpt

OBJECTIVE: To gather additional data on the ability to detect subchromosomal abnormalities of various sizes in single fetal cells isolated from maternal blood, using low-coverage shotgun next-generation sequencing for cell-based noninvasive prenatal testing (NIPT). METHOD: Fetal trophoblasts were recovered from approximately 30 mL of maternal blood using maternal white blood cell depletion, density-based cell...

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• Share to Fetal and Pediatric Neurological Disorders
• Share to Genomic variations and chromosomal abnormalities
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