[Chromosomal evaluation in couples with reproductive disorders--retrospective study of a selected group of 266...

Reproductive Disorders (RD), manifested by the biological inability to conceive (primary sterility) or inability to carry a pregnancy to full-term (infertility), affect 10-15% of reproductive-aged couples. The genetic etiology of RD is represented, in the majority of cases, by the chromosomal abnormalities.

To retrospectively analyze the karyotype results in a selected group of couples with RD.

The present study was performed in 266 couples with RD: 80 (30.07%) with primary sterility (ST), 149 (56.01%) with Recurrent Spontaneous Abortions (RSA) and 37 (13.90%) with Stillborn Children (SC). A GTG-banded karyotype was performed on both partners of each couple.

We identified a chromosomal abnormality in 43 individuals (16.16%): 20 cases (7.51%) with ST, 13 cases (4.88%) with RSA and 10 cases (3.75%) with SC. The affected partner was female in 23 cases (8.64%) and male in 20 cases (7.51%). A X chromosome (numerical or structural) abnormality was detected in 18 cases (6.76%), most frequent X chromosome monosomy mosaicism in female and trisomy XXY in male; a balanced structural chromosomal abnormality (BSC) was detected in 23 couples (8.64%); in other two males with ST, the karyotype result was 46,XX.

The results of our study are similar to other reported studies and underline the major etiologic role of chromosomal abnormalities in RD and the importance of chromosomal analysis for the etiologic diagnosis and genetic counseling of these patients.