Indian Journal of Human Genetics
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Year : 2013  |  Volume : 19  |  Issue : 4  |  Page : 415-422

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

1 FRIGE's Institute of Human Genetics, Cytogenetic and Molecular Cytogenetic section, FRIGE House, Satellite, Ahmedabad, Gujarat, India
2 Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany
3 Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne, Tyne and Wear, NE1 4EP, United Kingdom

Correspondence Address:
Frenny J Sheth
FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad - 380 015, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.124369

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Background: 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.

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