Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.
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Date
2013-10
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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 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.
Description
Keywords
Break points, chromosomal abnormalities, recurrent loss of pregnancy, small supernumerary marker chromosome, translocations
Citation
Sheth 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.