Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 16
Print this page  Email this page Small font sizeDefault font sizeIncrease font size
ORIGINAL ARTICLE
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
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.124369

Get Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1815    
    Printed34    
    Emailed0    
    PDF Downloaded90    
    Comments [Add]    

Recommend this journal