植入前遗传学诊断的安全性和可靠性探讨

摘要

植入前遗传学诊断(preimplantation genetic diagnosis,PGD)是在胚胎植入前对配子或体外受精胚胎进行遗传学分析的一项诊断技术,目的在于从源头预防遗传性疾病的发生,从而改善有遗传性疾病高风险夫妇的妊娠结局.近年来,随着分子生物学技术的进步,越来越多遗传性疾病的发生机制被阐明,PGD的诊断范围逐渐扩展,其应用周期数也日益增多.新技术的开展如比较基因组杂交及其微阵列提高了PGD诊断的准确性.然而,这项技术的安全性问题也引起了人们高度重视.作者从透明带开孔技术、不同时期胚胎活检、胚胎活检细胞数目以及遗传分析技术的可靠性等方面对PGD的安全性进行了探讨.%Preimplantation genetic diagnosis (PGD) refers to a procedure to genetically analyze embryos prior to implantation, in order to prevent the occurrence of specific inherited disorders before conception and improve the outcome of high-risk pregnancy with genetic disorders. In recent years, with the advance of molecular biology techniques, more and more genetic diseases have been elucidated, and PGD has been gradually expanding its scope and applications. New technologies, such as microarray comparative genomic hybridization (array CGH), are developed to improve the accuracy of diagnosis. However, the safety of this procedure has aroused great attention. In this article, authors will review the safety of zona opening procedures, different biopsy procedures at different stages, and removal of one or two cells from cleavage-stage embryos. The reliability of genetic analysis technologies will be discussed as well.