Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 415-422
Article
in English
| IMSEAR
| ID: sea-156607
ABSTRACT
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 ANDMETHODS:
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Translocation, Genetic
/
Female
/
Male
/
Genetic Markers
/
Abortion, Spontaneous
/
Retrospective Studies
/
Chromosome Aberrations
/
Adolescent
/
Adult
/
Young Adult
Type of study:
Observational study
/
Risk factors
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
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