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Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and
Julia Geppert1, Chris Stinton1, Samantha Johnson2
1Warwick Medical School, University of Warwick, Coventry, UK.
Prenatal Diagnosis
|December 14, 2019
Summary
Non-invasive prenatal testing (NIPT) using cell-free DNA analysis demonstrates high accuracy for detecting fetal trisomy 21, 18, and 13. However, the evidence is limited and carries a high risk of bias.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Molecular Biology
Background:
- Non-invasive prenatal testing (NIPT) analyzes cell-free fetal DNA in maternal plasma.
- Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) are common fetal aneuploidies.
Purpose of the Study:
- To evaluate the test accuracy of NIPT for fetal trisomy 21, 18, and 13.
- To assess the performance of cell-free (cf) DNA analysis in maternal plasma using microarray quantitation.
Main Methods:
- Systematic review and meta-analysis.
- Searched multiple databases (MEDLINE, EMBASE, Web of Science, Cochrane Library) up to July 2018.
- Included five studies analyzing 3074 samples.
Main Results:
- Microarray-based cfDNA testing showed high sensitivity and specificity for trisomies 21, 18, and 13.
- Sensitivity ranged from 97.7% to 100%, and specificity was 99.97% or higher.
- The pooled test failure rate was 1.1%; test accuracy was comparable to sequencing-based cfDNA methods.
Conclusions:
- NIPT using microarray-based cfDNA testing exhibits high accuracy for detecting fetal trisomies 21, 18, and 13.
- The current evidence base is limited and associated with a high risk of bias.
- Further research with robust methodology is warranted.
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