Journal of Postgraduate Medicine
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Year : 2010  |  Volume : 56  |  Issue : 4  |  Page : 317-320

Preimplantation diagnosis of genetic diseases


1 Division of Reproductive Medicine, Kasturba Medical College, Manipal University, Manipal, India
2 Genetics Clinic, Kasturba Medical College, Manipal University, Manipal, India

Correspondence Address:
K M Girisha
Genetics Clinic, Kasturba Medical College, Manipal University, Manipal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0022-3859.70943

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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.






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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow