| ORIGINAL ARTICLE |
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| Year : 2013 | Volume
: 19
| Issue : 4 | Page : 415-422 |
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Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study
Frenny J Sheth1, Thomas Liehr2, Pritti Kumari1, Ralph Akinde1, Harsh J Sheth3, Jayesh J Sheth1
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
India
 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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