Application of chromosomal microarray analysis for a cohort of Chinese patients with spontaneous miscarriage

Objective: To explore the relationship between spontaneous miscarriage and chromosomal aberrations identifiable with chromosomal microarray analysis (CMA).

Methods: A total of 440 product-of-conceptions were collected for the CMA testing.

Results: Four hundred and seventeen of 440 specimens (94.7%) were successfully detected, among which 209 (50.1%) were chromosomal abnormalities. One hundred and twenty-nine (61.7%) of the 209 specimens were numerical chromosomal abnormalities, 40 specimens (19.1%) were structural anomalies, 38 specimens (18.1%) were mosaicisms, and 2 specimens (1.0%) showed regions of homozygosity.

Conclusions: CMA analysis of products of-conception specimens can yield a higher diagnostic rate than conventional karyotyping. The identification of the cause of spontaneous miscarriage can facilitate estimation of recurrence risks for future pregnancies.