Preimplantation genetic diagnosis for Zellweger syndrome

被引：10

作者：

Al-Sayed, Moeen ^{[4
]}

Al-Hassan, Saad ^{[3
]}

Rashed, Mohamed ^{[2
,4
]}

Qeba, Meshal ^{[3
]}

Coskun, Serdar ^{[1
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Natl Lab Newborn Screening, Riyadh 11211, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Dept Obstet & Gynecol, Riyadh 11211, Saudi Arabia

[4] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

来源：

FERTILITY AND STERILITY | 2007年 / 87卷 / 06期

关键词：

Peroxisome biogenesis disorder (PBD); Zellweger syndrome spectrum (ZSS); Zellweger syndrome (ZS); preimplantaion genetic diagnosis (PGD);

D O I：

10.1016/j.fertnstert.2006.09.014

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To report on the first live birth of a normal child after performance of preimplantation genetic diagnosis (PGD) for Zellweger syndrome (ZS). Design: Case report. Setting: Tertiary-care hospital. Patient(s): A family with four children diagnosed with ZS, who were all born at term and who expired around 4 months of age. Intervention(s): In vitro fertilization and preimplantation genetic diagnosis. Main Outcome Measure(s): Preimplantation genetic diagnosis of ZS in embryos, and live birth from the transferred normal embryos. Result(s): After PGD, two genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy baby girl was delivered in week 40 of pregnancy. The baby was confirmed as genotypically wild-type, and free of any sign of ZS. Conclusion(s): To the best of our knowledge, this is the first successful PGD for ZS caused by mutation in PEX26 gene, with the subsequent delivery of a homozygous normal baby. (Fertil Steril (R) 2007;87:1468.e1-3. (C) 2007 by American Society for Reproductive Medicine.)

引用

页码：1468.e1 / 1468.e3

页数：3

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