Journal of Human Reproductive Science
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CASE REPORT Table of Contents   
Year : 2012  |  Volume : 5  |  Issue : 3  |  Page : 289-292
Single-cell polymerase chain reaction-based pre-implantation genetic diagnosis using fragment analysis for β-thalassemia in an Indian couple with β-globin gene mutations


Department of Molecular Medicine, Reliance Life Sciences Pvt. Ltd., R-282, TTC Area of MIDC, Navi Mumbai, India

Correspondence Address:
Dhananjaya Saranath
Consultant Molecular Medicine, 601-B, 9A Perry, Bandra (West), Mumbai - 400 050
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-1208.106343

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Despite advances in diagnostic techniques, approximately 10,000 babies with β-thalassemia major are born annually in India. Pre-implantation genetic diagnosis (PGD), an alternative to prenatal diagnosis, helps in negative selection of affected embryos prior to implantation. Hereby, we report the first successful β-thalassemia PGD pregnancy in an Indian carrier couple. β-Thalassemia mutation analysis by Amplification-Refractory Mutation Sequence (ARMS)-polymerase chain reaction (PCR) in the parents, followed by PGD for β-thalassemia mutation in embryos in two consequent in vitro fertilization (IVF) cycles, with transfer for three β-thalassemia minor embryos, resulted in singleton successful pregnancy, the results of which were confirmed on prenatal diagnosis. With advances in assisted reproductive techniques and molecular diagnosis, PGD for monogenic diseases is feasible in high-risk couples. The methodology in the current study included two rounds of PCR using fluorescently labeled primers, fragment analysis using the ABI 3100 nucleotide sequencer and the GeneMapper software, purification, and concentration of PCR product, which enabled distinct clear peaks making the analysis and interpretation non-ambiguous.


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