Abstract

MIRAGAIA, Telma; NUNES, Joana Fechado; SAMPAIO, André Forjaz de  and  CORREIA, Sofia Feijó. Non-invasive prenatal tests for aneuploidies screening: an evidence-based review. Rev Port Med Geral Fam [online]. 2020, vol.36, n.3, pp.253-264. ISSN 2182-5173.  https://doi.org/10.32385/rpmgf.v36i3.12547.

Objectives: We aim to compare the performance, limitations, and cost-effectiveness of non-invasive prenatal cell-free fetal DNA test (cff-DNA), with the traditional tests in pregnant women. Data Sources: Guidelines Finder, TRIP database, CMA-Infobase, The Cochrane Library, DARE, Bandolier, and PubMed. Review methods: We searched for meta-analysis, systematic reviews, controlled and randomized clinical trials, and clinical guidelines published in English, Portuguese, and Spanish languages between January 2013 and July 2018. Searched terms: “non-invasive prenatal test” and “cell-free fetal DNA”. The Canadian TASK Force scale was used to assess the studies’ quality and to assign the level of evidence and strength of recommendation. The selected outcome was performance, limitations, and cost-effectiveness of the test. Results: The search provided 517 articles. Twelve met the inclusion criteria: two were systematic reviews, four were systematic reviews with meta-analysis, and six were clinical guidelines. The cff-DNA test has better performance to detect trisomy 21, 18, and 13 than traditional tests. Its clinical validity is higher for trisomy 21. However, it’s not a diagnostic test. Therefore, a positive or inconclusive result must be confirmed by a diagnostic test and the pregnant women referred for genetic counseling. Conclusions: The cff-DNA test could be an option to detect trisomy 21, 18, and 13 in the high-risk pregnant women, rather than amniocentesis. If the test result is positive or inconclusive, it must be confirmed by an invasive test (II-2A). It has some limitations like test performance before 10 weeks of gestational age, maternal obesity, multiple pregnancies, or maternal neoplasia. In these situations, pregnant women should be studied. Currently, the cost-effectiveness of the contingent screening is uncertain, and the universal screening isn’t cost-effective (III-C).

Keywords : Non-invasive prenatal test; Cell-free fetal DNA.

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