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Updated: Jun 19, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Preimplantation genetic diagnosis for alpha-thalassaemia in China
Yan-Wen Xu1, Yan-Hong Zeng, Jie Deng
1Reproductive Medical Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Purpose:
To report the usage of PGD for alpha-thalassaemia with the - -(SEA) genotype.
Method:
A PGD protocol using fluorescent gap PCR was performed for 51 cycles on 43 couples with the - -(SEA) genotype. Allele drop-out and amplification failure rates were retrospectively analyzed.
Results:
A total of 472 embryos were biopsied. Amplification was achieved in 390 blastomeres, accounting for an amplification rate of 82.6%. In total, 120 wild-type, 94 heterozygotes and 140 homozygous mutant embryos were diagnosed. The successful diagnosis rate was 75.0%. The ADO rate in 49 blastomeres from six donated embryos was 16.4%. One hundred and fifty four embryos were transferred, resulting in 25 clinical pregnancies with an implantation rate of 24.0%.
Conclusions:
Single-round fluorescent gap PCR is a feasible and effective strategy in the PGD for alpha-thalassaemia with the - -(SEA) genotype.
