ArticleMolecular genetics & genomic medicine2019
Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.PLoS computational biology · 2021Article
- Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience.Journal of assisted reproduction and genetics · 2020Article
- Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
18 authors.
Funding
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Abstract
backgroundNext-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.
methodsRetrospective 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.
resultsIn 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.
conclusionsTargeted 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.
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