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Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience.
Prenat Diagn 2004; 24(12):949-54PD

Abstract

OBJECTIVES

To report the experiences on preimplantation genetic diagnosis (PGD) in couples at risk for beta-thalassaemia in Sardinia.

METHODS

23 couples at risk for beta-thalassaemia were included in the PGD programme with a total of 42 cycles performed. Among these, 11 couples were fertile, while the remaining 12 had associated fertility problems. In vitro Fertilization (IVF), PGD and prenatal genetic molecular confirmation protocols and results are reported.

RESULTS

All the patients followed the protocol of ovarian stimulation, oocyte retrieval, intracytoplasmic sperm injection (ICSI), embryo biopsy and genetic analysis. A total of 272 oocytes were fertilized in the regular way, and embryo biopsy was performed on 202 embryos. Out of these 202 embryos, 192 (95%) were successful. The genetic diagnosis was performed on 150 embryos (78.1%). Ninety-eight were identified as unaffected and 75 were transferred in 31 cycles. In the infertile patient group, two biochemical pregnancies (11.1% per transfer), in the fertile patient group, four clinical pregnancies, two twin and two singleton pregnancies (30.8% per transfer), were obtained. The genetic molecular results were confirmed in all pregnancies by first-trimester chorionic villus sampling (CVS).

CONCLUSION

Our study shows that PGD for beta-thalassaemia is an available procedure for couples who wish to avoid termination of pregnancy, except in cases where the IVF cycle efficiency is very poor.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, Via Jenner s/n, 09121 Cagliari, Italy. prenatalmonni@tiscali.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

15614915

Citation

Monni, Giovanni, et al. "Preimplantation Genetic Diagnosis for Beta-thalassaemia: the Sardinian Experience." Prenatal Diagnosis, vol. 24, no. 12, 2004, pp. 949-54.
Monni G, Cau G, Usai V, et al. Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience. Prenat Diagn. 2004;24(12):949-54.
Monni, G., Cau, G., Usai, V., Perra, G., Lai, R., Ibba, G., ... Rosatelli, M. C. (2004). Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience. Prenatal Diagnosis, 24(12), pp. 949-54.
Monni G, et al. Preimplantation Genetic Diagnosis for Beta-thalassaemia: the Sardinian Experience. Prenat Diagn. 2004 Dec 15;24(12):949-54. PubMed PMID: 15614915.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience. AU - Monni,Giovanni, AU - Cau,Giuseppina, AU - Usai,Valeria, AU - Perra,Graziella, AU - Lai,Rosalba, AU - Ibba,Giuseppe, AU - Faà,Valeria, AU - Incani,Federica, AU - Rosatelli,Maria Cristina, PY - 2004/12/23/pubmed PY - 2005/4/19/medline PY - 2004/12/23/entrez SP - 949 EP - 54 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 24 IS - 12 N2 - OBJECTIVES: To report the experiences on preimplantation genetic diagnosis (PGD) in couples at risk for beta-thalassaemia in Sardinia. METHODS: 23 couples at risk for beta-thalassaemia were included in the PGD programme with a total of 42 cycles performed. Among these, 11 couples were fertile, while the remaining 12 had associated fertility problems. In vitro Fertilization (IVF), PGD and prenatal genetic molecular confirmation protocols and results are reported. RESULTS: All the patients followed the protocol of ovarian stimulation, oocyte retrieval, intracytoplasmic sperm injection (ICSI), embryo biopsy and genetic analysis. A total of 272 oocytes were fertilized in the regular way, and embryo biopsy was performed on 202 embryos. Out of these 202 embryos, 192 (95%) were successful. The genetic diagnosis was performed on 150 embryos (78.1%). Ninety-eight were identified as unaffected and 75 were transferred in 31 cycles. In the infertile patient group, two biochemical pregnancies (11.1% per transfer), in the fertile patient group, four clinical pregnancies, two twin and two singleton pregnancies (30.8% per transfer), were obtained. The genetic molecular results were confirmed in all pregnancies by first-trimester chorionic villus sampling (CVS). CONCLUSION: Our study shows that PGD for beta-thalassaemia is an available procedure for couples who wish to avoid termination of pregnancy, except in cases where the IVF cycle efficiency is very poor. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/15614915/Preimplantation_genetic_diagnosis_for_beta_thalassaemia:_the_Sardinian_experience_ L2 - https://doi.org/10.1002/pd.1051 DB - PRIME DP - Unbound Medicine ER -