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Clinical implementation of NIPT – technical and biological challenges
Author(s) -
Brady P.,
Brison N.,
Van Den Bogaert K.,
de Ravel T.,
Peeters H.,
Van Esch H.,
Devriendt K.,
Legius E.,
Vermeesch J.R.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12598
Subject(s) - aneuploidy , cell free fetal dna , fetus , prenatal diagnosis , biology , genome , trisomy , computational biology , medicine , bioinformatics , pregnancy , genetics , chromosome , gene
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.