Birth of healthy children after preimplantation diagnosis of β-thalassemia by whole-genome amplification

Zexu Jiao, Canquan Zhou, Jie Li, Yimin Shu, Xiaoyan Liang, Mingfang Zhang, Guanglun Zhuang

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Preimplantation genetic diagnosis (PGD) offers couples at risk for transmitting an inherited disorder the possibility to avoid the need to terminate affected pregnancies. PGD for monogenic diseases is most commonly accomplished by blastomere biopsy from cleavage-stage embryos, followed by PCR-based DNA analysis. However, the molecular heterogeneity of many monogenic diseases requires a diagnostic strategy capable of detecting a range of mutations and compound genotypes. With the above considerations, we developed an accurate and reliable strategy for analysis of β-globin gene mutations, applicable for PGD for the wide spectrum of β-thalassemia major mutations in the Chinese population. The strategy involves primer-extension preamplification (PEP, followed by nested PCR and reverse dot blot (RDB) for mutation detection since it facilitates simultaneous analysis of more than one mutation in a single cell. This report describes the application of the strategy in two clinical IVF/PGD cycles at risk for transmitting β-thalassemia major, which resulted in the first thalassemia-free children born after PGD in China.

Original languageEnglish (US)
Pages (from-to)646-651
Number of pages6
JournalPrenatal Diagnosis
Issue number8
StatePublished - Aug 1 2003
Externally publishedYes


  • Preimplantation genetic diagnosis
  • Primer extension preamplification
  • Whole-genome amplification
  • β-thalassemia

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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