Adiga S K, Kalthur G, Kumar P, Girisha K M
Division of Reproductive Medicine, Kasturba Medical College, Manipal University, Manipal, India.
J Postgrad Med. 2010 Oct-Dec;56(4):317-20. doi: 10.4103/0022-3859.70943.
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.
临床遗传学的里程碑之一是遗传疾病的产前诊断。该领域的最新进展使得在体外受精的情况下，能够在胚胎植入前诊断出遗传状况。聚合酶链反应和荧光原位杂交是通过胚胎活检获得的单个或两个细胞上常用的两种技术。寻求体外受精的夫妇可以对其胚胎进行非整倍体筛查，而有单基因疾病风险但在产前诊断后不愿终止受影响胎儿妊娠的夫妇，可能是接受该程序的最佳人选。本文综述了临床实践中植入前基因检测的技术、适应症、益处和局限性。
