Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

Nicolaides, Kypros H.; Syngelaki, Argyro; Ashoor, Ghalia; Birdir, C; Touzet, Gisele

doi:10.1016/j.ajog.2012.08.033

Cited by 559 publications

(361 citation statements)

References 26 publications

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“…These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome; 26 studies examined prospectively collected blood or stored plasma samples obtained before invasive diagnostic testing in patients identified by conventional methods of screening as being at high-risk for aneuploidies. Only two studies reported on findings in a general population [23,37]. …”

Section: Resultsmentioning

confidence: 99%

“…The first group of studies was used for the meta-analysis on the performance of screening by cfDNA testing in screening for aneuploidies [13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40]. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome; 26 studies examined prospectively collected blood or stored plasma samples obtained before invasive diagnostic testing in patients identified by conventional methods of screening as being at high-risk for aneuploidies.…”

Section: Resultsmentioning

confidence: 99%

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Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

et al. 2014

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Objective: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis in screening for aneuploidies and to explore the potential use of this method in clinical practice. Methods: Searches of PubMed and MEDLINE were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between 2011, when the first such study was published, and 20 December 2013. Results: Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.0% (95% CI 98.2-99.6) and 0.08% (95% CI 0.03-0.14), respectively, for trisomy 21; 96.8% (95% CI 94.5-98.4) and 0.15% (95% CI 0.08-0.25) for trisomy 18; 92.1% (95% CI 85.9-96.7) and 0.20% (95% CI 0.04-0.46) for trisomy 13; 88.6% (95% CI 83.0-93.1) and 0.12% (95% CI 0.05-0.24) for monosomy X, and 93.8% (95% CI 85.9-98.7) and 0.12% (95% CI 0.02-0.28) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR was 94.4% (95% 74.2-99.0) and the FPR was 0% (95% CI 0.00-1.84) for trisomy 21. Conclusion: An analysis of cfDNA in maternal blood provides effective screening for trisomies.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

et al. 2014

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“…The false-positive rate for trisomy 21 using the Harmony™ Prenatal Test is lower than 0.1%, while first trimester combined screening has a 5% false-positive rate [3]. …”

Section: Introductionmentioning

confidence: 99%

Microarray-Based Cell-Free DNA Analysis Improves Noninvasive Prenatal Testing

Juneau¹,

Bogard²,

Huang³

et al. 2014

Fetal Diagn Ther

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Objective: To develop a microarray-based method for noninvasive prenatal testing (NIPT) and compare it with next-generation sequencing. Methods: Maternal plasma from 878 pregnant women, including 187 trisomy cases (18 trisomy 13, 37 trisomy 18, 132 trisomy 21), was evaluated for trisomy risk. Targeted chromosomes were analyzed using Digital Analysis of Selected Regions (DANSR™) assays. DANSR products were subsequently divided between two DNA quantification methods: microarrays and next-generation sequencing. For both microarray and sequencing methodologies, the Fetal-Fraction Optimized Risk of Trisomy Evaluation (FORTE™) algorithm was used to determine trisomy risk, assay variability across samples, and compute fetal fraction variability within samples. Results: NIPT using microarrays provided faster and more accurate cell-free DNA (cfDNA) measurements than sequencing. The assay variability, a measure of variance of chromosomal cfDNA counts, was lower for microarrays than for sequencing, 0.051 versus 0.099 (p < 0.0001). Analysis time using microarrays was faster, 7.5 versus 56 h for sequencing. Additionally, fetal fraction precision was improved 1.6-fold by assaying more polymorphic sites with microarrays (p < 0.0001). Microarrays correctly classified all trisomy and nontrisomy cases. Conclusions: NIPT using microarrays delivers more accurate cfDNA analysis than next-generation sequencing and can be performed in less time.

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“…the Harmony test, which analyses cell-free DNA in the maternal blood and will identify 99% of fetuses with trisomy 21, 97% of fetuses with trisomy 18 and 92% of fetuses with trisomy 13). [17] This highly effective screening test does not carry the risk of miscarriage and HIV transmission. However, it does not identify other chromosomal abnormalities, and the high cost makes it inaccessible to many patients.…”

Section: Recommendations For Managementmentioning

confidence: 99%

Recommendations for amniocentesis in HIV-positive women

2014

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Aneuploidy is a major cause of perinatal death and childhood handicap.[1] Improved methods of screening for aneuploidy such as the nuchal translucency (NT) scan, first-and second-trimester serum biochemistry and assessment of fetal anatomy and markers by ultrasound at 18 -22 weeks' gestation have replaced maternal age, which is known to be a poor method of screening. With improved screening methods, there is a need for diagnostic tests such as a chorionic villous sample and amniocentesis to confirm or exclude aneuploidy. These invasive tests are associated with a risk of miscarriage, and should therefore only be carried out in high-risk pregnancies.

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Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

Cited by 559 publications

References 26 publications

Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

Microarray-Based Cell-Free DNA Analysis Improves Noninvasive Prenatal Testing

Recommendations for amniocentesis in HIV-positive women

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