Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

Background Current cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal chromosomal abnormalities are not detectable by current noninvasive methods. Here we report the clinical validation of a novel noninvasive prenata...

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Veröffentlicht in:	American journal of obstetrics and gynecology 2016-08, Vol.215 (2), p.227.e1-227.e16
Hauptverfasser:	Lefkowitz, Roy B., PhD, Tynan, John A., PhD, Liu, Tong, PhD, Wu, Yijin, PhD, Mazloom, Amin R., PhD, Almasri, Eyad, MS, Hogg, Grant, MS, Angkachatchai, Vach, PhD, Zhao, Chen, PhD, Grosu, Daniel S., MD, McLennan, Graham, MS, Ehrich, Mathias, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult cell-free DNA chromosomal copy number variant Chromosome Aberrations Chromosome Disorders - diagnosis Chromosome Disorders - diagnostic imaging DNA Copy Number Variations Female genomewide High-Throughput Nucleotide Sequencing Humans Karyotyping Maternal Age microdeletions Middle Aged noninvasive prenatal testing Obstetrics and Gynecology Pregnancy Prenatal Diagnosis - methods Retrospective Studies Sequence Analysis, DNA subchromosomal copy number variant Young Adult
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Zusammenfassung:	Background Current cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal chromosomal abnormalities are not detectable by current noninvasive methods. Here we report the clinical validation of a novel noninvasive prenatal test (NIPT) designed to detect genomewide gains and losses of chromosomal material ≥7 Mb and losses associated with specific deletions
ISSN:	0002-9378 1097-6868
DOI:	10.1016/j.ajog.2016.02.030