Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

ABSTRACT Objective Whole‐genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X],...

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Veröffentlicht in:	Prenatal diagnosis 2013-06, Vol.33 (6), p.591-597
Hauptverfasser:	Mazloom, Amin R., Džakula, Željko, Oeth, Paul, Wang, Huiquan, Jensen, Taylor, Tynan, John, McCullough, Ron, Saldivar, Juan-Sebastian, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Maeder, Margo, McLennan, Graham, Meschino, Wendy, Palomaki, Glenn E., Canick, Jacob A., Deciu, Cosmin
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneuploidy Chromosomes, Human, X - genetics Chromosomes, Human, Y - genetics Cohort Studies DNA - blood DNA - genetics Female Fetus - metabolism High-Throughput Nucleotide Sequencing Humans Male Mothers Pregnancy - blood Prenatal Diagnosis - methods Sequence Analysis, DNA - methods Sex Chromosome Aberrations
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