Preimplantation genetic diagnosis for beta-thalassemia

Ze xu Jiao, Guan lun Zhuang, Can quan Zhou, Yi min Shu, Xiao yan Liang, Jie Li, Min fang Zhang, Ming fen Deng

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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. CONCLUSION: 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.

Original languageEnglish (US)
Pages (from-to)298-301
Number of pages4
JournalZhonghua yi xue za zhi
Issue number4
StatePublished - Feb 25 2003
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


Dive into the research topics of 'Preimplantation genetic diagnosis for beta-thalassemia'. Together they form a unique fingerprint.

Cite this