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[Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification].

Abstract

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.

CONCLUSION

These studies represent the successful application of PGD for beta-thalassemia in China.

Authors+Show Affiliations

Reproductive Medical Center, First Affiliated Hospital of Sun Yet-sen University, Guangzhou, Guangdong, 510080 PR China. zexujiao@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

chi

PubMed ID

14556205

Citation

Jiao, Ze-xu, et al. "[Preimplantation Genetic Diagnosis for Beta-thalassemia Using Whole Genome Amplification]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 20, no. 5, 2003, pp. 447-8.
Jiao ZX, Zhuang GL, Zhou CQ, et al. [Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20(5):447-8.
Jiao, Z. X., Zhuang, G. L., Zhou, C. Q., Shu, Y. M., Li, J., Zhang, M. F., & Deng, M. F. (2003). [Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 20(5), pp. 447-8.
Jiao ZX, et al. [Preimplantation Genetic Diagnosis for Beta-thalassemia Using Whole Genome Amplification]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20(5):447-8. PubMed PMID: 14556205.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification]. AU - Jiao,Ze-xu, AU - Zhuang,Guang-lun, AU - Zhou,Can-quan, AU - Shu,Yi-min, AU - Li,Jie, AU - Zhang,Min-fang, AU - Deng,Ming-fen, PY - 2003/10/14/pubmed PY - 2004/1/15/medline PY - 2003/10/14/entrez SP - 447 EP - 8 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 20 IS - 5 N2 - 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. CONCLUSION: These studies represent the successful application of PGD for beta-thalassemia in China. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/14556205/[Preimplantation_genetic_diagnosis_for_beta_thalassemia_using_whole_genome_amplification]_ L2 - http://www.diseaseinfosearch.org/result/814 DB - PRIME DP - Unbound Medicine ER -