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Journal of Postgraduate Medicine
Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India
ISSN: 0022-3859 EISSN: 0022-3859
Vol. 56, No. 4, 2010, pp. 317-320
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Bioline Code: jp10092
Full paper language: English
Document type: Review Article
Document available free of charge
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Journal of Postgraduate Medicine, Vol. 56, No. 4, 2010, pp. 317-320
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Preimplantation diagnosis of genetic diseases
Adiga, S.K.; Kalthur, G.; Kumar, P. & Girisha, K.M.
Abstract
One of the landmarks in clinical genetics is prenatal diagnosis of genetic disorders. The recent advances in the field have made it possible to diagnose the genetic conditions in the embryos before implantation in a setting of in vitro fertilization. Polymerase chain reaction and fluorescence in situ hybridization are the two common techniques employed on a single or two cells obtained via embryo biopsy. The couple who seek in vitro fertilization may screen their embryos for aneuploidy and the couple at risk for a monogenic disorder but averse to abortion of the affected fetuses after prenatal diagnosis, are likely to be the best candidates to undergo this procedure. This article reviews the technique, indications, benefits, and limitations of pre-implantation genetic testing in clinical practice.
Keywords
Pre-implantation diagnosis, genetics, prenatal diagnosis
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