Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis
Article first published online: 17 JUL 2013
© 2013 RCOG
BJOG: An International Journal of Obstetrics & Gynaecology
Volume 121, Issue 1, pages 11–21, January 2014
How to Cite
Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. BJOG 2014;121:11–21., , , , , , .
- Issue published online: 20 DEC 2013
- Article first published online: 17 JUL 2013
- Manuscript Accepted: 28 APR 2013
- EME TABLET Trial
- Children's Charity SPARKS
- CMA ;
Approximately 50% of spontaneous miscarriages are associated with chromosome abnormalities. Identification of these karyotypic abnormalities helps to estimate recurrence risks in future pregnancies. Chromosomal microarray analysis (CMA) is transforming clinical cytogenetic practice with its ability to examine the human genome at increasingly high resolution.
The aim of this study was to determine whether CMA testing on the products of conception following miscarriage provides better diagnostic information compared with conventional karyotyping.
MEDLINE (from 1996 to December 2012), EMBASE (from 1974 to December 2012), and CINAHL (from 1996 to December 2012) databases were searched electronically.
Studies were selected if CMA was used on products of conception following miscarriage, alongside conventional karyotyping.
Data collection and analysis
Nine papers were included in the systematic review and meta-analysis. All statistical analyses were performed using stata 11.0 (Stata Corp., College Station, TX, USA).
There was agreement between CMA and karyotyping in 86.0% of cases (95% CI 77.0–96.0%). CMA detected 13% (95% CI 8.0–21.0) additional chromosome abnormalities over conventional full karyotyping. In addition, traditional, full karyotyping detected 3% (95% CI 1.0–10.0%) additional abnormalities over CMA. The incidence of a variant of unknown significance (VOUS) being detected was 2% (95% CI 1.0–10.0%).
Compared with karyotyping, there appears to be an increased detection rate of chromosomal abnormalities when CMA is used to analyse the products of conception; however, some of these abnormalities are VOUS, and this information should be provided when counselling women following miscarriage and when taking consent for the analysis of miscarriage products by CMA.