Speaker

Dr. Chonthicha Satirapot

Associate Professor of Department of Obstetrics and Gynecology,

Faculty of Medicine Ramathibodi Hospital, Thailand

Speaker's Biography

Chonthicha Satirapod MD is a graduate of the Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Thailand. She also completed a residency and fellowship training in obstetrics and gynecology subspecialty reproductive medicine at the same hospital. Afterward, she has been practicing in the Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University since 2007. She attended a research fellowship in Vincent Center for Reproductive Biology, Vincent Obstetrics and Gynecology Service, Massachusetts General Hospital (MGH)/Harvard Medical School, Boston, MA, USA. Currently, Dr. Chonthicha is the chief of the infertility unit in the Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital. She focuses on infertility treatment, especially in assisted reproductive technology and PGT-M. Her research interest includes sperm, female ovarian aging, PGT-M, and stem cell.

Topic

The Success Story of PGT-M with Thalassemia Disease in Ramathibodi Hospital

Abstract

Thalassemia and hemoglobinopathy is a group of hereditary blood disorders with diverse clinical manifestations inherited by autosomal recessive. The Beta-thalassemia/Hemoglobin E disease (HbE/βthal) causes a variable degree of hemolysis, and the most severe form of HbE/βthal disease develops lifelong transfusion-dependent anemia. Preimplantation genetic testing (PGT) is an established procedure of embryo genetic analysis to avoid the risk of passing on this particular condition from the carrier parents to their offspring. Preimplantation genetic testing for chromosomal aneuploidy (PGT-A) also facilitates the selection of embryos without chromosomal aberration and result in the successful embryo implantation rate. Herein, we study the clinical outcome of using combined PGT-M and PGT-A in couples at risk of passing on HbE/βthal disease. The study was performed from January 2016 to December 2017. PGT-M was developed using short tandem repeat linkage analysis around the beta-globin gene cluster and direct mutation testing using primer extension-based mini-sequencing. Thereafter, we recruited 15 couples at risk of passing on HbE/βthal disease who underwent a combined total of 22 IVF cycles. PGT was performed in 106 embryos with a 3.89% allele drop-out rate. Using combined PGT-M and PGT-A methods, 80% of women obtained satisfactory genetic testing results and underwent embryo transfer within the first two cycles. The successful implantation rate was 64.29%. PGT accuracy was evaluated by prenatal and postnatal genetic confirmation, and 100% had a genetic status consistent with PGT results. The overall clinical outcome of successful live birth for couples at risk of producing offspring with HbE/βthal was 53.33%. Conclusively, combined PGT-M and PGT-A is a helpful technology to prevent HbE/βthal disease in the offspring of recessive carriers.