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Publication

Clinical implementation of NIPT - technical and biological challenges

Journal Contribution - Review Article

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.

Journal: Clin Genet
ISSN: 0009-9163
Issue: 5
Volume: 89
Pages: 523-30
Publication year:2016
Keywords:Aneuploidy, DNA/genetics, Female, Fetal Diseases/diagnosis, Genome-Wide Association Study/methods, Humans, Pregnancy, Prenatal Diagnosis/methods, Reproducibility of Results, Sensitivity and Specificity