Geppert, Julia, Stinton, Chris, Johnson, Samantha Ann, Clarke, Aileen, Grammatopoulos, Dimitris and Taylor-Phillips, Sian (2020) Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing : a systematic review and meta-analysis. Prenatal Diagnosis, 40 (4). pp. 454-462. doi:10.1002/pd.5621 ISSN 0197-3851.

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Abstract

Objective
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.

Method
Systematic review and meta‐analysis. Searches in MEDLINE, Pre‐MEDLINE, EMBASE, Web of Science, and the Cochrane Library to 09.07.2018.

Results
Five studies analyzing 3074 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%‐99.9%) for trisomy 21, 97.7% (95%CI 87.9%‐99.6%) for trisomy 18, and 100% (95%CI 83.2%‐100%) for trisomy 13. Specificity was 100% (95% CI 99.87%‐100%) for trisomy 21, 99.97% (95%CI 99.81%‐99.99%) for trisomy 18, and 99.97% (95%CI 99.81%‐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.

Conclusion
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.

Item Type:	Journal Article
Subjects:	R Medicine > RZ Other systems of medicine
Divisions:	Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Administration > Information and Digital Group > Library Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences > Population, Evidence & Technologies (PET) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Prenatal diagnosis, Fetus -- Diseases -- Molecular diagnosis, Fetal monitoring, Genetic screening, Fetus -- Abnormalities
Journal or Publication Title:	Prenatal Diagnosis
Publisher:	John Wiley & Sons Ltd.
ISSN:	0197-3851
Official Date:	March 2020
Dates:	Date Event March 2020 Published 13 December 2019 Available 31 October 2019 Accepted 19 July 2019 Submitted
Volume:	40
Number:	4
Page Range:	pp. 454-462
DOI:	10.1002/pd.5621
Status:	Peer Reviewed
Publication Status:	Published
Reuse Statement (publisher, data, author rights):	This is the peer reviewed version of the following article: Geppert, J, Stinton, C, Johnson, S, Clarke, A, Grammatopoulos, D, Taylor-Phillips, S. Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis. Prenatal Diagnosis. 2020; 40: 454–462., which has been published in final form at https://doi.org/10.1002/pd.5621. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
Access rights to Published version:	Free Access (unspecified licence, 'bronze OA')
Date of first compliant deposit:	10 January 2020
Date of first compliant Open Access:	13 January 2020
RIOXX Funder/Project Grant:	Project/Grant ID RIOXX Funder Name Funder ID CDF-2016-09-018 [NIHR] National Institute for Health Research http://dx.doi.org/10.13039/501100000272 UNSPECIFIED NIHR Applied Research Collaboration (ARC) West Midlands UNSPECIFIED

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