Abstract：Objective Preimplantation genetic diagnosis(PGD)is one of effective strategies to block the transmission of genetic diseases in the family and to reduce birth defects. During the whole process of PGD, genetic counseling and preliminary experiment will be the very important steps. The strategies and methods of preliminary experiments may affect the final outcome.Methods Individualized preliminary experiment strategies were designed based on the different hereditary patterns of diseases, including gene mutations verification and single cell genomic amplification and sequencing.Results The reliability of pathogenic genes and their mutation sites for autosomal dominant and X-linked recessive hereditary diseases can be evaluated by genetic counseling combined with pre-experiments results including mutation sites identification in family members. The gene testing of a X-linked recessive hereditary disease should start with the probands in the family rather than carriers. Furthermore, some special problems in the couples, such as balanced chromosome translocation, can also be identified by pre-experiments.Conclusion Genetic counseling and pre-experiment should be the first step in the process of single gene embryo diagnosis. It can help us to evaluate the pathogenicity of genes and gene mutation sites, design personalized embryo testing strategies, improve the accuracy of diagnosis, and minimize the risk of delivering a baby with birth defects.
朱小辉,关硕,王玉倩,邵敏杰,廉颖,黄锦,李蓉,刘平,闫丽盈*,乔杰. 遗传咨询和预实验结果对胚胎植入前单基因遗传病诊断结局的影响[J]. 中国生育健康杂志, 2019, 30(1): 26-31.
ZHU Xiaohui,GUAN Shuo,WANG Yuqian, SHAO Minjie, LIAN Ying, HUANG Jin, LI Rong, LIU Ping, YAN Liying, QIAO Jie. Effect of genetic counseling and preliminary results onpreimplantation diagnosis outcome of single gene inherited diseases. Chinese Journal of Reproductive Health, 2019, 30(1): 26-31.
