Application of chromosomal microarray analysis in products of miscarriage

Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and somewhat of low cost-effectiveness. As chromosomal microarray analysis has been recommended to be applied on miscarriage products, we managed a retrospective study on our experience investigate the potential impact of this technique on previous guidelines and our present management on miscarried couples and products.

Of the 405 products of conceptions, the overall detection rate of pathogenetic results was 55.3% (224/405), including 7.1% (16/224) copy number changes which could be missed by conventional karyotyping analysis. Of the 222 natural conception samples, abnormal genetic results were found in 126 cases (56.8%). The detection rate in the assistant reproductive treatment group was 53.6% (98/183). No significant difference was found between these two groups (p = 0.645, OR = 1.110 with 95% CI: 0.713-1.726). The detection rate was 53.2% (75/141) in 141 product-of-conceptions (POCs) of mothers with adverse pregnancy histories. Of the 264 POC samples of mothers without abnormal pregnancy histories, 56.4% (149/264) were genetically abnormal. The detection rate and maternal age between these two groups were all compatible.

Chromosomal microarray testing should be referred to couples at their first miscarriage regardless of the way how they get pregnant.