Preimplantation genetic diagnosis for alpha-thalassaemia in China

Journal of Assisted Reproduction and Genetics
Yan-wen XuGuang-lun Zhuang


To report the usage of PGD for alpha-thalassaemia with the - -(SEA) genotype. 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. 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%. Single-round fluorescent gap PCR is a feasible and effective strategy in the PGD for alpha-thalassaemia with the - -(SEA) genotype.


Jul 1, 1985·British Journal of Obstetrics and Gynaecology·S T LiangD Todd
Mar 22, 2001·Prenatal Diagnosis·M De RyckeI Liebaers
Sep 21, 2006·Prenatal Diagnosis·Jie DengGuang-lun Zhuang


Jun 15, 2011·Journal of Assisted Reproduction and Genetics·Xiaoting ShenTao Li
Nov 15, 2011·Best Practice & Research. Clinical Obstetrics & Gynaecology·Tak Yeung Leung, Terence T Lao
Aug 15, 2014·American Journal of Hematology·Aihua YinXiaozhuang Zhang

Methods Mentioned


Related Concepts

Fertilization in Vitro
Pregnancy Outcome
Nested Polymerase Chain Reaction
Pregnancy Rate
Preimplantation Screening
Structure of Blastomere

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