Abstract

VAZ-DE-MACEDO, Carolina. Non-invasive prenatal testing for aneuploidy screening: the state-of-the-art. Acta Obstet Ginecol Port [online]. 2018, vol.12, n.1, pp.37-46. ISSN 1646-5830.

Non-invasive prenatal testing (NIPT) is a recent approach to prenatal aneuploidy screening. NIPT has an excellent test performance but it is not a diagnostic test, as there are known limitations associated with false positive and false negative results. When compared to standard screening, pre-test counselling is complicated by concepts such as the possibility of incidental findings. It is important for all the health professionals involved in this field to be familiarised with the state-of-the art knowledge in NIPT. The aim of this article is to review the evidence on the clinical use of NIPT for aneuploidy screening.

Keywords : Prenatal screening; Aneuploidy.

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