TY - JOUR
T1 - Preimplantation diagnosis of genetic diseases
AU - Adiga, S. K.
AU - Kalthur, G.
AU - Kumar, Pratap
AU - Girisha, K. M.
PY - 2010/10
Y1 - 2010/10
N2 - 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.
AB - 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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U2 - 10.4103/0022-3859.70943
DO - 10.4103/0022-3859.70943
M3 - Review article
C2 - 20935409
AN - SCOPUS:77957998303
SN - 0022-3859
VL - 56
SP - 317
EP - 320
JO - Journal of Postgraduate Medicine
JF - Journal of Postgraduate Medicine
IS - 4
ER -