Non-invasive prenatal testing of fetal chromosomal aneuploidies: what should be changed?

Authors

  • Luís Guedes-Martins Instituto de Ciências Biomédicas Abel Salazar, University of Porto; Training and Research Unit, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto; Instituto de Investigação e Inovação em Saúde, Universidade do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v28.i2.18428

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References

1. Lau TK, Chan MK, Lo PS, Chan HY, Chan WS, Koo TY, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med. 2012; 25:1856-9. doi:10.3109/14767058.2012.678442.

2. Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health. 2015; 7:113-26. doi: 10.2147/IJWH.S67124.

3. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2017; 50:302–14.

4. Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol 2017; 49:714–20.

5. Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, et al. ISUOG consensus statement on the impact of noninvasive prenatal testing (NIPT) on prenatal ultrasound practice. Z Geburtshilfe Neonatol. 2014; 218:242-3. doi: 10.1055/s-0034-1395670.

6. Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, et al. ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice. Ultrasound Obstet Gynecol. 2017; 49:815-6.

7. John NM, Wright SJ, Gavan SP, Vass CM. The role of information provision in economic evaluations of non-invasive prenatal testing: a systematic review. Eur J Health Econ. 2019. doi:10.1007/s10198-019-01082-x.

8. Bayón JC, Orruño E, Portillo MI, Asua J. The consequences of implementing non-invasive prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis. Cost Eff Resour Alloc. 2019;17:6. doi: 10.1186/s12962-019-0173-8.

9. Xu Y, Wei Y, Ming J, Li N, Xu N, Pong RW, et al. Cost-Effectiveness Analysis of Non-invasive Prenatal Testing for Down Syndrome in China. Int J Technol Assess Health Care. 2019; 35:237-42. doi:10.1017/S0266462319000308.

10. García-Pérez L, Linertová R, Álvarez-de-la-Rosa M, Bayón JC, Imaz-Iglesia I, Ferrer-Rodríguez J, et al. Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review. Eur J Health Econ. 2018; 19:979-91. doi: 10.1007/s10198-017-0946-y.

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Published

2019-08-09

How to Cite

1.
Guedes-Martins L. Non-invasive prenatal testing of fetal chromosomal aneuploidies: what should be changed?. BGMJ [Internet]. 2019 Aug. 9 [cited 2026 Aug. 31];28(2):61-2. Available from: https://revistas.rcaap.pt/bgmj/article/view/18428

Issue

Vol. 28 No. 2 (2019)

Section

Editorial

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