Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study

TLDR

Reproductive loss imposes significant human and economic burdens. The study aimed to determine the frequency and distribution of cytogenetic abnormalities in miscarriages from couples with recurrent miscarriage and compare them to the general population. Karyotyping of 420 specimens (29 pre‑clinical, 237 embryonic, 154 fetal) from 285 couples was performed. Among 420 miscarriages from recurrent‑miscarriage couples, 54% were euploid and 46% abnormal (mostly trisomies), and euploid miscarriages were more frequent in women under 36, while the overall distribution of abnormalities did not differ from controls.

Abstract

Reproductive loss carries immeasurable human costs as well as being costly to the health care system. The objectives of this study were to determine the frequency and distribution of cytogenetically abnormal miscarriages from couples with recurrent miscarriage and to compare the results with the general population.A total of 420 specimens, including 29 pre-clinical, 237 embryonic and 154 fetal, were successfully karyotyped from 285 couples with recurrent miscarriage. The results were stratified according to maternal age and compared with controls.In all, 225 specimens (54%) were euploid. A total of 195 specimens (46%) were cytogenetically abnormal, of which 131 (66.5%) were trisomic, 37 (19%) were polyploid, 18 (9%) were monosomy X, eight (4%) were unbalanced translocations and one was a combination of trisomy 21 and monosomy X. The frequency of euploid miscarriages was significantly higher in women <36 years of age with recurrent miscarriage compared with controls. The distribution of cytogenetic abnormalities in the recurrent miscarriage group was not significantly different from controls, when stratified by maternal age.Women <36 years of age with recurrent miscarriage have a higher frequency of euploid miscarriage. When stratified for maternal age, there is no difference in the distribution of cytogenetically abnormal miscarriages in couples with recurrent miscarriage compared with controls.