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An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

21 Jul 2016

Abstract excerpt

Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large...

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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: 27441628
DOI: 10.1371/journal.pone.0159648

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