Preimplantation Genetic Diagnosis for Alpha Thalassemia: Experience in Siriraj Hospital

Authors

  • Japarath Prechapanich Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Roungsin Choavaratana Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Orawan Makemaharn Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Chompunut Kanjanakorn Siriraj-Thalassemia Program Project, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Wanna Thongnoppakhun Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Chanin Limwongse Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University

Keywords:

Alpha thalassemia, preimplantation genetic diagnosis (PGD), single PCR

Abstract

Objective: Detection of fetal thalassemia using preimplantation genetic diagnosis (PGD) can make a diagnosis before pregnancy so termination of pregnancy in that patient is eliminated. The objective of this study was to develop a single gene polymerase chain reaction (PCR) protocol for PGD of alpha thalassemia in Siriraj Hospital.
Methods: A couple with a history of repeated Bart’s hemoglobinopathy in fetus underwent an artificial reproductive technique (ART) process using a standard ovarian stimulation protocol with intracytoplasmic sperm injection (ICSI) to reduce sperm DNA contamination. On day 3 post fertilization, laser biopsy was performed on the cleavage stage embryos to obtain a blastomere for PCR analysis of alpha thalassemia 1 SEA type.
Results: 11 embryos from a total of 15 oocytes were biopsied, 2 normal, 1 alpha thal 1 trait and 3 affected embryos were detected. No contamination and allele drop out were detected, but a high PCR failure rate of 5 from 11 total biopsied embryos.
Conclusion: PGD for alpha thalassemia was first established in Siriraj Hospital, but the result had a high failure rate so then optimized laboratory techniques were required.Â

Downloads

Published

01-11-2008

How to Cite

Prechapanich, J., Choavaratana, R. ., Makemaharn, O. ., Kanjanakorn, C. ., Thongnoppakhun, W. ., & Limwongse, C. . (2008). Preimplantation Genetic Diagnosis for Alpha Thalassemia: Experience in Siriraj Hospital. Siriraj Medical Journal, 60(6), 334–338. Retrieved from https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/246506

Issue

Vol. 60 No. 6 (2008): Nov-Dec

Section

Original Article

License

Users are free to share, copy, and redistribute all articles published in the Siriraj Medical Journal (SMJ) in any medium or format as long as you follow the following terms:

  • Attribution — You must give appropriate credit, provide a link to the material, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the publisher endorses you or your use.
  • NonCommercial — You may not use the material for commercial purposes.
  • NoDerivatives — If you remix, transform, or build upon the material, you may not distribute the modified material.
  • No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.