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A new interesting article has been published in Mol Genet Genomic Med. 2019 Jul;7(7):e00678. doi: 10.1002/mgg3.678. Epub 2019 May 8. and titled:

Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study.

Authors of this article are:

Koc A, Ozer Kaya O, Ozyilmaz B, Kutbay YB, Kirbiyik O, Ozdemir TR, Erdogan KM, Saka Guvenc M, Oztekin DC, Ozeren M, Pala HG, Ekin A, Gezer C, Sahingoz Yildirim AG, Konuralp Atakul B, Kurtulmus S, Turhan U, Taner CE.

A summary of the article is shown below:

BACKGROUND: Next-generation sequencing (NGS) and discovery of fetal cell-free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called “fetal cfDNA screening” and in contrast to noninvasive conventional serum screening, it provides the identification of 98%-99% of fetuses with Down syndrome.METHODS: Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented. Two separate laboratory workflows and NGS platforms are used for the same targeted NIPT analysis.RESULTS: In total, 4,594 pregnant women were investigated. Initial 3,594 cases are studied by MiSeq platform, the last 1,000 cases by NextSeq. Failure rate for MiSeq platform is 10.9% and for NextSeq is 8.7%. Automatically reported cases constitute 75% of the MiSeq group and 87% of the NextSeq group.CONCLUSIONS: Targeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31070015 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: NIPS;NIPT;cfDNA screening.

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