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


OBJECTIVE
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.


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.
FRIGE's Institute of Human Genetics, Cytogenetic and Molecular Cytogenetic section, FRIGE House, Satellite, Ahmedabad, Gujarat, India.
Frenny J
FJ
Sheth
Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
Thomas
T
Liehr
FRIGE's Institute of Human Genetics, Cytogenetic and Molecular Cytogenetic section, FRIGE House, Satellite, Ahmedabad, Gujarat, India.
Pritti
P
Kumari
FRIGE's Institute of Human Genetics, Cytogenetic and Molecular Cytogenetic section, FRIGE House, Satellite, Ahmedabad, Gujarat, India.
Ralph
R
Akinde
Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne, Tyne and Wear, NE1 4EP, UK.
Harsh J
HJ
Sheth
FRIGE's Institute of Human Genetics, Cytogenetic and Molecular Cytogenetic section, FRIGE House, Satellite, Ahmedabad, Gujarat, India.
Jayesh J
JJ
Sheth
Break points; chromosomal abnormalities; recurrent loss of pregnancy; small supernumerary marker chromosome; translocations