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Birth of healthy children after preimplantation diagnosis of beta-thalassemia.
Chin Med J (Engl). 2004 Apr; 117(4):483-7.CM

Abstract

BACKGROUND

Clinical programs for preventing beta-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with beta-thalassemia.

METHODS

A couple carrying different thalassemia mutations, both a codon 41 - 42 mutation and the IVS II 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.

RESULTS

Of a total of 13 embryos analyzed for beta-globin mutations, PGD indicated that 2 were normal, 3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.

CONCLUSIONS

We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of beta-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed beta-thalassemia free children in China. PEP was used here in PGD for beta-thalassemia.

Authors+Show Affiliations

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

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15109434

Citation

Jiao, Ze-Xu, et al. "Birth of Healthy Children After Preimplantation Diagnosis of Beta-thalassemia." Chinese Medical Journal, vol. 117, no. 4, 2004, pp. 483-7.
Jiao ZX, Zhuang GL, Zhou CQ, et al. Birth of healthy children after preimplantation diagnosis of beta-thalassemia. Chin Med J. 2004;117(4):483-7.
Jiao, Z. X., Zhuang, G. L., Zhou, C. Q., Shu, Y. M., Li, J., & Liang, X. Y. (2004). Birth of healthy children after preimplantation diagnosis of beta-thalassemia. Chinese Medical Journal, 117(4), 483-7.
Jiao ZX, et al. Birth of Healthy Children After Preimplantation Diagnosis of Beta-thalassemia. Chin Med J. 2004;117(4):483-7. PubMed PMID: 15109434.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Birth of healthy children after preimplantation diagnosis of beta-thalassemia. AU - Jiao,Ze-Xu, AU - Zhuang,Guang-Lun, AU - Zhou,Can-Quan, AU - Shu,Yi-Min, AU - Li,Jie, AU - Liang,Xiao-Yan, PY - 2004/4/28/pubmed PY - 2004/7/9/medline PY - 2004/4/28/entrez SP - 483 EP - 7 JF - Chinese medical journal JO - Chin. Med. J. VL - 117 IS - 4 N2 - BACKGROUND: Clinical programs for preventing beta-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with beta-thalassemia. METHODS: A couple carrying different thalassemia mutations, both a codon 41 - 42 mutation and the IVS II 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed. RESULTS: Of a total of 13 embryos analyzed for beta-globin mutations, PGD indicated that 2 were normal, 3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD. CONCLUSIONS: We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of beta-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed beta-thalassemia free children in China. PEP was used here in PGD for beta-thalassemia. SN - 0366-6999 UR - https://www.unboundmedicine.com/medline/citation/15109434/Birth_of_healthy_children_after_preimplantation_diagnosis_of_beta_thalassemia_ L2 - http://www.diseaseinfosearch.org/result/814 DB - PRIME DP - Unbound Medicine ER -