Sheth, Frenny JLiehr, ThomasKumari, PrittiAkinde, RalphSheth, Harsh JSheth, Jayesh J2015-03-052015-03-052013-10Sheth Frenny J, Liehr Thomas, Kumari Pritti, Akinde Ralph, Sheth Harsh J, Sheth Jayesh J. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 415-422.http://imsear.searo.who.int/handle/123456789/156607BACKGROUND: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. PURPOSE: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. MATERIALS AND METHODS: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G‑banding and fluorescence in situ hybridization wherever necessary. RESULTS: Chromosomal rearrangements were found in 170 individuals (3.5%). Translocations were seen in 72 (42.35%) cases. Of these, reciprocal translocations constituted 42 (24.70%) cases while Robertsonian translocations were detected in 30 (17.64%) cases. 7 (4.11%) cases were mosaic, 8 (4.70%) had small supernumerary marker chromosomes and 1 (0.6%) had an interstitial microdeletion. Nearly, 78 (1.61%) cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70%) and chromosome 9 pericentromeric variants (32.05%) were predominantly involved. CONCLUSIONS: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.enBreak pointschromosomal abnormalitiesrecurrent loss of pregnancysmall supernumerary marker chromosometranslocationsAbortion, Spontaneous --epidemiologyAdolescentAdultChromosome Aberrations --epidemiologyFemaleFetal Death --epidemiologyGenetic LinkageGenetic MarkersIndiaMaleMiddle AgedRetrospective StudiesTranslocation, GeneticYoung AdultArticle