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[Preimplantation genetic diagnosis for beta-thalassemia].
Zhonghua Yi Xue Za Zhi 2003; 83(4):298-301ZY

Abstract

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.

Authors+Show Affiliations

Reproductive Medical Center, First Affiliated Hospital of Sun Yet-sen University, Guangzhou 510080, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

12812646

Citation

Jiao, Ze-xu, et al. "[Preimplantation Genetic Diagnosis for Beta-thalassemia]." Zhonghua Yi Xue Za Zhi, vol. 83, no. 4, 2003, pp. 298-301.
Jiao ZX, Zhuang GL, Zhou CQ, et al. [Preimplantation genetic diagnosis for beta-thalassemia]. Zhonghua Yi Xue Za Zhi. 2003;83(4):298-301.
Jiao, Z. X., Zhuang, G. L., Zhou, C. Q., Shu, Y. M., Liang, X. Y., Li, J., ... Deng, M. F. (2003). [Preimplantation genetic diagnosis for beta-thalassemia]. Zhonghua Yi Xue Za Zhi, 83(4), pp. 298-301.
Jiao ZX, et al. [Preimplantation Genetic Diagnosis for Beta-thalassemia]. Zhonghua Yi Xue Za Zhi. 2003 Feb 25;83(4):298-301. PubMed PMID: 12812646.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Preimplantation genetic diagnosis for beta-thalassemia]. AU - Jiao,Ze-xu, AU - Zhuang,Guan-lun, AU - Zhou,Can-quan, AU - Shu,Yi-min, AU - Liang,Xiao-yan, AU - Li,Jie, AU - Zhang,Min-fang, AU - Deng,Ming-fen, PY - 2003/6/19/pubmed PY - 2004/9/10/medline PY - 2003/6/19/entrez SP - 298 EP - 301 JF - Zhonghua yi xue za zhi JO - Zhonghua Yi Xue Za Zhi VL - 83 IS - 4 N2 - 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. SN - 0376-2491 UR - https://www.unboundmedicine.com/medline/citation/12812646/[Preimplantation_genetic_diagnosis_for_beta_thalassemia]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0376-2491&year=2003&vol=83&issue=4&fpage=298 DB - PRIME DP - Unbound Medicine ER -