Cytogenetic Abnormalities and Herdetiry Thrombophilias among the Abortees:

Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experiences for both patients and clinicians.

The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses (RPL), and the associated risk factors.

Kuwait Medical Genetics Centre Methods: A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden (FVL; Arg506Gln) and prothrombin (FII) gene mutations (G20210A).

the prevalence of chromosomal abnormalities was 4.4%; most of them were structural aberrations (79.5%) represented mainly by inversion and translocation. Carriers of FVL mutation (G1691A) among the patient's group was significantly higher than that of the control group (10% vs. 2% respectively).One patient was heterozygous for FII G20210A mutations. This was nearly the same like that found in controls. The percentage of consanguineous marriages among patient group was less than that among the control group. Chromosome study for couple who have had RPL must be carried out. For complete and proper workup we have to investigate the presence of FVL, and FII G20210A mutations among patients with normal karyotype.