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

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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

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