Cytogenetic investigations in couples with repeated miscarriages and malformed children: report of a novel insertion.

Recurrent miscarriage and the birth of a malformed child continue to be challenging problems for the patient and clinician. Often, cytogenetic studies have an important role in the evaluation of couples with a poor obstetric history. The present study deals with analysis of chromosome abnormalities in 2150 couples from India, and is the largest group ever reported in the literature. The observed incidence of chromosomal rearrangements in these couples was 3.5%. Apart from reciprocal, Robertsonian, inversions, a unique case of chromosome insertion was identified, which is perhaps only the second report in literature. Minor chromosome variants such as inv(9),inv(Y),9qh+, D/G variants were observed in 108 subjects. Cytogenetic studies should be performed for all couples with repeated miscarriages and bad obstetric history, and in cases of detected chromosomal aberration, the patient should be counselled individually according to the type of anomaly.