Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases)

BACKGROUND: First trimester pregnancy loss is a very common complication and a matter of concern for couples planning pregnancy. Balanced chromosomal rearrangements in either parent is an important cause of recurrent pregnancy loss particularly in the first trimester.
AIMS: In this study an evaluation of the contribution of chromosomal anomalies in causing repeated spontaneous abortions was made.
METHODS AND MATERIALS: A review of the cytogenetic data in 742 couples (1484 individuals) with recurrent spontaneous abortions who were examined for chromosomal aberrations in the period 1990-2003 is presented. Women who had at least two abortions, or spontaneous abortions preceded or followed by fetal deaths or birth of a malformed child, and patients who had recurrent spontaneous abortions (> 3) with normal live issue/s were studied.
RESULTS: Chromosomal rearrangements were found in 31 individuals (2%). These abnormalities included 22 (2.9%) structural aberrations, 9 (1.2%) numerical anomalies. In addition to these abnormalities, 21 (3.2%) chromosomal variants were also found.
CONCLUSION: Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options.

Keywords
Chromosomal abnormalities; reciprocal translocation; recurrent spontaneous abortion; Robertsonian translocation