[Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification].
OBJECTIVE
To achieve pregnancy with unaffected embryo using 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
A couple carrying different thalassemia mutations of codon 41/42 and codon IVS2 position 654 received standard IVF treatment and intracytoplasmic sperm injection, embryo biopsy, single cell polymerase chain reaction and DNA analyses, and only the unaffected or carrier embryos were transferred to uterus. Pregnancy confirmation, and prenatal diagnosis were done at 20 week's gestation.


RESULTS
A total of 13 embryos were analyzed in the IVF cycle. PGD indicated that 2 were normal  18.1    , 3 were affected  27.3    , and 6 were carriers  54.5    ; diagnosis was not possible in 2. Three embryos were transferred to uterus on the third day after oocyte retrieval. Ultrasonography showed twin pregnancy with one blighted ovum. The prenatal diagnoses revealed that both fetuses were unaffected, one normal baby and one carrier were born.


CONCLUSIONS
These studies represent the successful application of PGD for beta-thalassemia in China.
Jiao
Ze-xu
ZX
Reproductive Medical Center, First Affiliated Hospital of Sun Yet-sen University, Guangzhou, Guangdong, 510080 PR China. zexujiao@yahoo.com
Zhuang
Guang-lun
GL
Zhou
Can-quan
CQ
Shu
Yi-min
YM
Li
Jie
J
Zhang
Min-fang
MF
Deng
Ming-fen
MF
D000328:Adult; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*