Preimplantation genetic diagnosis for β-thalassemia using whole genome amplification

Ze Xu Jiao, Guang Lun Zhuang, Can Quan Zhou, Yi Min Shu, Jie Li, Min Fang Zhang, Ming Fen Deng

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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 β-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. Conclusion: These studies represent the successful application of PGD for β-thalassemia in China.

Original languageEnglish (US)
Pages (from-to)447-448
Number of pages2
JournalChinese Journal of Medical Genetics
Issue number5
StatePublished - Oct 2003
Externally publishedYes


  • Embryo biopsy
  • Nested-polymerase chain reaction
  • Preimplantation genetic diagnosis
  • Primer extension preamplification
  • Thalassemia
  • Whole genome amplification

ASJC Scopus subject areas

  • Medicine(all)


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