[Preimplantation genetic diagnosis for beta-thalassemia].
OBJECTIVE
To investigate the effect of in vitro fertilization and embryo transfer (IVF-ET) and preimplantation genetic diagnosis (PGD) for the couples at risk of having children with beta-thalassemia.


METHODS
Four couples carrying different thalassemia mutations received standard IVF treatment. Embryo biopsy was conducted. Single blastomeres were genotyped by a protocol involving primer extension preamplification, nested polymerase chain reaction and reverse dot-blot analysis. Only the unaffected embryos were transferred to the uterus.


RESULTS
A total of 97 oocytes were retrieved from the four female carriers. Among them, 83% showed two pronuclei. Embryo biopsy was performed on 47 of these embryos. The amplification efficiency was 84.8%. The average ADO rate was 14.9%. Ten unaffected embryos were transferred. A twin pregnancy with one blighted ovum was confirmed at 7 weeks' gestation by ultrasonography and one normal baby and one carrier of thalassemia mutation were born finally.


CONCLUSIONS
This unaffected pregnancy resulting from PGD for beta-thalassemia demonstrates that PGD technique can be a powerful diagnostic tool for couples carrying beta-thalassemia mutations who desire a healthy child and wish to avoid abortion of an affected fetus.
Jiao
Ze-xu
ZX
Reproductive Medical Center, First Affiliated Hospital of Sun Yet-sen University, Guangzhou 510080, China.
Zhuang
Guan-lun
GL
Zhou
Can-quan
CQ
Shu
Yi-min
YM
Liang
Xiao-yan
XY
Li
Jie
J
Zhang
Min-fang
MF
Deng
Ming-fen
MF
D001706:Biopsy; D004622:Embryo, Mammalian / Q000473:pathology; D005260:Female; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics