Harper Joyce C, Bui The-Hung
UCL Centre for Pre-implantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK.
Best Pract Res Clin Obstet Gynaecol. 2002 Oct;16(5):659-70. doi: 10.1053/beog.2002.0314.
Pre-implantation genetic diagnosis is an alternative to prenatal diagnosis for a select group of patients. Patients have to go through in vitro fertilization in order to produce embryos in vitro, from which one or two cells are removed at the 8-cell stage. A fluorescence in situ hybridization or polymerase chain reaction is carried out for the genetic diagnosis. Fluorescence in situ hybridization is used for the analysis of chromosomes for sexing for X-linked disease, chromosome abnormalities and aneuploidy screening. Aneuploidy screening is performed for infertile patients going through in vitro fertilization to try to improve their pregnancy rate. A polymerase chain reaction is used for the diagnosis of single-gene disorders. Since the risk of contamination and allele dropout is high with a polymerase chain reaction, linked or unlinked markers are usually used in a fluorescent multiplex polymerase chain reaction. New techniques, for example comparative genomic hybridization, allow the analysis of all of the chromosomes from one cell at one time. The ethical implications of pre-implantation genetic diagnosis are immense as the technique has already been used for social sexing and human leukocyte antigen matching.
胚胎植入前遗传学诊断是为特定患者群体提供的一种替代产前诊断的方法。患者必须经历体外受精，以便在体外产生胚胎，在8细胞阶段从这些胚胎中取出一两个细胞。进行荧光原位杂交或聚合酶链反应以进行遗传学诊断。荧光原位杂交用于分析染色体以确定X连锁疾病的性别、染色体异常和非整倍体筛查。对接受体外受精的不育患者进行非整倍体筛查，以试图提高其妊娠率。聚合酶链反应用于诊断单基因疾病。由于聚合酶链反应存在污染和等位基因脱失的高风险，通常在荧光多重聚合酶链反应中使用连锁或非连锁标记。新技术，例如比较基因组杂交，允许一次性分析一个细胞的所有染色体。胚胎植入前遗传学诊断的伦理影响巨大，因为该技术已被用于社会性别鉴定和人类白细胞抗原匹配。
