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Updated: May 28, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR
Wirawit Piyamongkol1, Teraporn Vutyavanich, Torpong Sanguansermsri
1Preimplantation Genetic Diagnosis Center, Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 110 Intawaroros Road, Sripoom, Mueang, Chiang Mai, 50200, Thailand. wpiyamon@mail.med.cmu.ac.th
Purpose:
Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis (PND) giving couples at risk a chance to start a pregnancy with a disease-free baby. This study aimed to develop a new PGD protocol for alpha-thalassemia(-SEA) mutation, the commonest Mendelian disorder.
Patients And Methods:
Multiplex fluorescent PCR was employed for mutation, contamination and linkage analysis. A couple experienced termination of pregnancy following positive PND decided to join the project.
Results:
Novel primers for alpha-thalassemia(-SEA) mutation amplifying 5 DNA fragments were developed. Two PGD cycles were performed, resulting in an un-affected baby. PND confirmed the heterozygous result. From 24 embryos, 87.5% of affected genotype were of best quality compared to 0% and 18.2% of those with normal and heterozygous, respectively.
Conclusions:
A novel PCR protocol for the common alpha-thalassemia(-SEA) mutation is reported. This test should be widely applicable. Interestingly, a potential effect of alpha-thalassemia(-SEA) mutation on preimplantation embryonic development was noticed.
