Preimplantation genetic diagnosis for alpha-thalassaemia in China.
OBJECTIVE
To report the usage of PGD for alpha-thalassaemia with the - -(SEA) genotype.


METHODS
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.
Xu
Yan-Wen
YW
Reproductive Medical Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Zeng
Yan-Hong
YH
Deng
Jie
J
Liu
Ying
Y
Gao
Ling
L
Zhou
Can-Quan
CQ
Zhuang
Guang-Lun
GL
D000328:Adult; D001706:Biopsy; D001757:Blastomeres / Q000473:pathology; D002681:China; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control