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Updated: Jul 16, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic diagnosis for Zellweger syndrome
Moeen Al-Sayed1, Saad Al-Hassan, Mohamed Rashed
1Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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.
