Preimplantation genetic diagnosis for Down syndrome pregnancy  

作　　者：ZHANG Yu XU Chen-ming ZHU Yi-min DONG Min-yue QIAN Yu-li JIN Fan HUANG He-feng 

机构地区：[1]Department of Reproductive Endocrinology, Women＇s Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China

出　　处：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2007年第7期515-521,共7页浙江大学学报（英文版）B辑（生物医学与生物技术）

基　　金：Project supported by the National Basic Research Program of China(Nos. 2006CB944006 and 2006CB504004);the Key Research Pro-gram of Zhejiang Province, China (No. 2006C13078);the Bureau of Science and Technology of Hangzhou, China (No. 20061123B03)

摘　　要：Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results: Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome pre-viously, PGD can be considered, and has been shown to be an effective strategy.Objective： To evaluate the effect ofpreimplantation genetic diagnosis （PGD） conducted for women who had Down syndrome pregnancy previously. Methods： Trisomy 21 was diagnosed by using fluorescence in site hybridization （FISH） before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results： Case 1： one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2： two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion： For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.

关 键 词：Down syndrome Fluorescence in site hybridization （FISH） Preimplantation genetic diagnosis （PGD） 

分 类 号：R715[医药卫生—妇产科学]