title: Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.
abstract: Noninvasive prenatal testing (NIPT) represents an outstanding example of how novel scientific discoveries can be quickly and successfully developed into hugely impactful clinical diagnostic tests. Since the introduction of NIPT to detect trisomy 21 in late 2011, the technology has rapidly advanced to analyze other autosomal and sex chromosome aneuploidies, and now includes the detection of subchromosomal deletion and duplication events. Here we provide a brief overview of how noninvasive prenatal testing using next-generation sequencing is performed.
authors.affiliation: Sequenom Laboratories, Clinical Lab, San Diego, California.
authors.forename: Nilesh
authors.initials: N
authors.lastname: Dharajiya
authors.affiliation: Sequenom Laboratories, Diagnostic Development, San Diego, California.
authors.forename: Tricia
authors.initials: T
authors.lastname: Zwiefelhofer
authors.affiliation: Sequenom Laboratories, Bioinformatics, San Diego, California.
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Guan
authors.affiliation: Sequenom Laboratories, Diagnostic Development, San Diego, California.
authors.forename: Vach
authors.initials: V
authors.lastname: Angkachatchai
authors.affiliation: Sequenom Laboratories, Clinical Lab, San Diego, California.
authors.forename: Juan-Sebastian
authors.initials: JS
authors.lastname: Saldivar
mesh_terms: D000782:Aneuploidy; D004247:DNA / Q000097:blood* / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005333:Fetus; D005820:Genetic Testing / Q000295:instrumentation / Q000379:methods*; D015698:Genomic Library; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000295:instrumentation / Q000379:methods*; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA
keywords: Next Generation Sequencing; Noninvasive prenatal testing