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Pre-implantation Genetic Diagnosis of Thalassemias |
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| รหัสดีโอไอ | |
| Creator | Wirawit Piyamongkol |
| Title | Pre-implantation Genetic Diagnosis of Thalassemias |
| Publisher | PIMDEE Co., Ltd. |
| Publication Year | 2561 |
| Journal Title | Thai Journal of Obstetrics and Gynaecology |
| Journal Vol. | 26 |
| Journal No. | 1 |
| Page no. | 2-9 |
| Keyword | embryo selection, hemoglobinopathy, multiplex florescent polymerase chain reaction (PCR), pre-implantation genetic diagnosis (PGD), thalassemias |
| URL Website | https://tci-thaijo.org/index.php/tjog/index |
| Website title | www.tci-thaijo.org |
| ISSN | 0857-6084 |
| Abstract | Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart's disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.Thalassemia syndromes and hemoglobinopathy cost signifiant health and economic burdenand sometimes maternal morbidity and mortality. The present strategy to reduce new cases ispopulation screening, prenatal genetic diagnosis (PND) and the option for termination of affectedpregnancy (TOP) following thoroughly genetic counselling. The advances of reproductivetechnology and molecular genetics facilitate genetic testing of the embryos prior to transfer intothe womb, therefore, embryo selection is possible. Pre-implantation genetic diagnosis (PGD)consists of sampling techniques from the embryos and molecular genetic analysis techniques.Polar body biopsy, cleavage stage embryo biopsy or blastocyst biopsy can be used for samplingDNA material from the embryos. Polymerase chain reaction (PCR) is employed for the analysisof thalassemia mutations. PGD is an alternative to the traditional PND, providing the couplesat risk of having severe thalassemia babies an opportunity to get pregnant with a healthy onewithout the need for TOP. Since 2004, a total of 64 PGD cycles have been performed at theDepartment of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, including37 alpha-thalassemia, 5 beta-thalassemia and 22 beta-thalassemia-Hb E disease, giving riseto 24 healthy pregnancies (27 babies). |
