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Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing

1 Oct 2015

Abstract excerpt

OBJECTIVE: To investigate the clinical efficiency of noninvasive prenatal test (NIPT) identifying fetal chromosomal aneuploidies. MATERIALS AND METHODS: In the present study, 917 women with high-risk pregnancies were invited to participate in an NIPT trial based on an Illumina HiSeq massively parallel sequencing platform. Abnormal cases in NIPT were validated by karyotyping and fluorescence in situ hybridization...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prenatal Screening and Diagnostics

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PMID: 26522104
DOI: 10.1016/j.tjog.2014.10.009

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