| Title |
Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis
|
|---|---|
| Published in |
Prenatal Diagnosis, December 2019
|
| DOI | 10.1002/pd.5621 |
| Pubmed ID | |
| Authors |
Julia Geppert, Chris Stinton, Samantha Johnson, Aileen Clarke, Dimitris Grammatopoulos, Sian Taylor‐Phillips |
| Abstract |
To evaluate the test accuracy of non-invasive prenatal testing (NIPT) for fetal trisomy 21, 18 and 13 using cell-free (cf) DNA analysis in maternal plasma with microarray quantitation. Systematic review and meta-analysis. Searches in MEDLINE, Pre-MEDLINE, EMBASE, Web of Science, and the Cochrane Library to 09.07.2018. Five studies analysing 3,074 samples, including 187 trisomy 21, 43 trisomy 18, and 19 trisomy 13 cases, were identified. Risk of bias was high in all studies, introduced particularly by exclusions from analysis and by the role of the sponsor. Sensitivity of microarray-based cfDNA testing was 99.5% (95%CI 96.3% to 99.9%) for trisomy 21, 97.7% (95%CI 87.9% to 99.6%) for trisomy 18, and 100% (95%CI 83.2% to 100%) for trisomy 13. Specificity was 100% (95% CI 99.87% to 100%) for trisomy 21, 99.97% (95%CI 99.81% to 99.99%) for trisomy 18, and 99.97% (95%CI 99.81% to 99.99%) for trisomy 13. Pooled test failure rate was 1.1%. A direct comparison of microarray- and sequencing-based cfDNA found equivalent test accuracy. Included studies suggest that NIPT using microarray-based cfDNA testing has high sensitivity and specificity for detecting fetal trisomy 21, 18 and 13. However, the evidence-base is small and at high risk of bias. This article is protected by copyright. All rights reserved. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 52 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 5 | 10% |
| Other | 4 | 8% |
| Student > Ph. D. Student | 4 | 8% |
| Researcher | 3 | 6% |
| Student > Postgraduate | 3 | 6% |
| Other | 7 | 13% |
| Unknown | 26 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 17 | 33% |
| Biochemistry, Genetics and Molecular Biology | 5 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
| Arts and Humanities | 1 | 2% |
| Engineering | 1 | 2% |
| Other | 0 | 0% |
| Unknown | 27 | 52% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 December 2019.
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#19,163,525
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Outputs from Prenatal Diagnosis
#1,814
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#327,468
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Outputs of similar age from Prenatal Diagnosis
#20
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