Abstract
ObjectivesMany women lose their fetuses through miscarriage due to a variety of causes. The incidence of three or more consecutive pregnancy losses is often classified as repeated spontaneous abortion (RSA) and is considered the most frustrating and complex area in reproductive medicine. Parental chromosomal abnormalities, underlying medical condition, heritable or acquired thrombophilias, immunologic abnormalities, infections, and environmental factors are reported to be possible etiologies responsible for RSA. Gametes with unbalanced chromosomes, which are formed when abnormalities exist in parent chromosomes, are one such cause and are responsible for about 50-60% of first-trimester pregnancy loss. This paper aims to identify whether there is an association between chromosomal anomalies in parents and RSA.MethodA case-control study was performed on a total sample size of 600 individuals, including 150 couples with a history of RSA and 150 fertile couples as control. The participants were cytogenetically analyzed using G-banding. Associations between variables were tested using Chi-square and Fisher’s exact test (a p-value<0.05 was considered significant). Informed consent from participants and institutional ethical clearance was obtained before the research began.ResultsChromosomal anomalies were detected in 21 individuals (7%) with a history of RSA. Female preponderance was observed with a female to male ratio of 2.5:1. Structural chromosomal aberrations (SCAs) were detected in 17 patients, with nine (53%) cases showing balanced reciprocal translocation (involving chromosomes 1,3,6,8,12,13,15,16,18,22 and X) and three (17.65%) cases of Robertsonian translocation (exclusively in males). Mosaicism was observed in four (19.05%) cases. A statistically significant positive association (p-value <0.05) was observed between the presence of parental chromosomal anomalies and RSA.ConclusionThese results support an association between RSA and parental chromosomal abnormalities. Currently, clinicians treating cases of RSA face challenging clinical conditions. Identifying a cytogenetic cause for RSA may be of great help to clinicians who manage affected couples.
Highlights
The definition of repeated spontaneous abortions (RSA) is varied and affects 2-5% of women
Studies show that 50-60% of pregnancy loss during the first trimester resulted from chromosomal abnormalities, which can be of the parental origin or arise de novo during embryonic development despite both parents having normal chromosomes [4,5]
The current study's data suggest that balanced reciprocal translocations occurring in either parent may be a cause of RSA, a result that is consistent with previous research [20]
Summary
The definition of repeated spontaneous abortions (RSA) is varied and affects 2-5% of women. Cytogenetic abnormalities are one of the more common causes of RSA [1]. Research has shown that parents experiencing abortion may possess chromosomal abnormalities in one or both partners [2]. Studies show that 50-60% of pregnancy loss during the first trimester resulted from chromosomal abnormalities, which can be of the parental origin or arise de novo during embryonic development despite both parents having normal chromosomes [4,5]. About 30% of pregnancy losses take place as soon as implantation occurs [6]. One-fourth of pregnancies are aborted before 14 weeks and are diagnosed clinically, but the intrauterine period of six to eight weeks is considered crucial. About 20% of fetuses aborted during this period show chromosomal abnormality (CA).
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