Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Koc A

PROVIDER: S-EPMC6625369 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Publications

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

Koc Altug A Ozer Kaya Ozge O Ozyilmaz Berk B Kutbay Yasar B YB Kirbiyik Ozgur O Ozdemir Taha R TR Erdogan Kadri M KM Saka Guvenc Merve M Oztekin Deniz C DC Ozeren Mehmet M Pala Halil G HG Ekin Atalay A Gezer Cenk C Sahingoz Yildirim Alkim G AG Konuralp Atakul Bahar B Kurtulmus Secil S Turhan Ugur U Taner Cuneyt E CE

Molecular genetics & genomic medicine 20190508 7

<h4>Background</h4>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.<h4>Methods</h4>Retrospective analysis of targeted noninvasive prenatal ...[more]

PMID: 31070015

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Project description:ObjectiveTo investigate the effectiveness and limitations of multifetal pregnancy reduction (MFPR) on the improvement of pregnancy outcomes of triplet or twin pregnancies conceived by in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).MethodsWe performed a cohort study of women undergoing IVF or ICSI from 2002-2016 in reproductive center, women's hospital, Zhejiang University School of Medicine. The cohort included 502 women who underwent MFPR and 9641 non-reduced women. Pregnancy outcomes were gestational age (GA) at delivery, pregnancy loss, preterm delivery, low birth weight (LBW), very low birth weight (VLBW), and small for gestational age (SGA). Multiple linear regression and logistic regression models were used to compare pregnancy outcomes between groups.ResultsTriplets reduced to singletons had a longer median GA (39.07 vs 37.00, P<0.001), and lower rates of LBW (8.9% vs 53.2%, P<0.001) and SGA (17.8% vs 44.7%, P=0.001) than triplets reduced to twins, with a similar pregnancy loss rate (6.7% vs 6.6%, P=0.701). Twins reduced to singletons had a comparable pregnancy loss rate (4.8% vs. 6.5%, P=0.40), a longer median GA (38.79 vs. 37.00, P<0.001), and lower rates of LBW (13.5% vs. 47.0%, P<0.001) and SGA (13.5% vs. 39.6%, P<0.001) than primary twins. Triplets reduced to twins had higher rates of LBW (53.2% vs. 47.0%, P=0.028) and SGA (44.7% vs. 39.6%, P=0.040) than primary twins, with a similar pregnancy loss rate (6.6% vs. 6.5%, P=0.877). Singletons reduced from triplets/twins had higher rates of preterm delivery (15.8% vs. 7.3%, P<0.001), LBW (12.3% vs. 4.32%, P<0.001), VLBW (2.3% vs. 0.4%, P=0.002), and SGA (14.6% vs.6.6%, P<0.001) than primary singletons, with a comparable pregnancy loss rate (5.3% vs. 5.4%, P=0.671).ConclusionsThis study suggests that the pregnancy loss rate is similar between reduction and non-reduction groups. MFPR improves pregnancy outcomes, including the risk of preterm delivery, LBW, and SGA, but still could not completely reverse the adverse pregnancy outcomes of multiple pregnancies.

Project description:BackgroundThe emergence of cell-free fetal DNA (cfDNA) testing technology has disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly funded systems around the world are grappling with how to best integrate this more accurate but costly technology, as there is limited evidence about its incremental value in real-world conditions. The objectives of this study were to describe the population-based performance of Ontario's prenatal screening program, which incorporates publicly funded cfDNA screening for specific indications, and the effect of cfDNA testing on the screening and diagnostic choices made by pregnant people.MethodsWe conducted a retrospective, descriptive cohort study using routinely collected data from Better Outcomes & Registry Network (BORN) Ontario, which captures linked population data for prenatal and neonatal health encounters across Ontario. We included all singleton pregnancies with an estimated due date between Sept. 1, 2016, and Mar. 31, 2019, that underwent publicly funded prenatal screening in Ontario, and a comparison cohort from Apr. 1, 2012, and Mar. 31, 2013. We assessed performance of the screening program for the detection of T21 or T18 by calculating sensitivity, specificity, positive predictive value and negative predictive value against diagnostic cytogenetic results or birth outcomes. We assessed the impact of the program by calculating the proportion of T21 screen-positive pregnancies undergoing subsequent cfDNA screening and invasive prenatal diagnostic testing.ResultsThe study cohort included 373 682 pregnancies. The prenatal screening program had an uptake of 69.9%, a screen-positive rate and sensitivity of 1.6% and 89.9% for T21, and 0.2% and 80.5% for T18, respectively. The test failure rate for cfDNA screening was 2.2%. Invasive prenatal diagnostic testing decreased from 4.4% in 2012-2013 to 2.4% over the study period; 65.2% of pregnant people who received a screen-positive result from cfDNA testing went on to have invasive prenatal diagnostic testing.InterpretationThis publicly funded screening program, incorporating cfDNA analysis for common aneuploidies, showed robust performance, a substantial reduction in invasive prenatal diagnostic testing and that pregnant people exercise autonomy in their choices about prenatal screening and diagnosis.

Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

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