title: Clinical implementation of NIPT - technical and biological challenges.
abstract: Non-invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome-wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome-wide cell-free fetal DNA profiling.
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: P
authors: P
authors: Brady
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: N
authors: N
authors: Brison
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: K
authors: K
authors: Van Den Bogaert
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: T
authors: T
authors: de Ravel
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: H
authors: H
authors: Peeters
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: H
authors: H
authors: Van Esch
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: K
authors: K
authors: Devriendt
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: E
authors: E
authors: Legius
authors: Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
authors: J R
authors: JR
authors: Vermeesch
mesh_terms: D000782:Aneuploidy; D004247:DNA / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D004247:DNA
keywords: cell-free DNA, (cfDNA); cell-free fetal DNA, (cffDNA); copy number variation, (CNV); genome sequencing; mosaicism; non-invasive prenatal testing, (NIPT); prenatal diagnosis