Document Detail

Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience.
MedLine Citation:
PMID:  15614915     Owner:  NLM     Status:  MEDLINE    
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.
Giovanni Monni; Giuseppina Cau; Valeria Usai; Graziella Perra; Rosalba Lai; Giuseppe Ibba; Valeria Faà; Federica Incani; Maria Cristina Rosatelli
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  24     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-12-28     Completed Date:  2005-04-18     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  949-54     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2004 John Wiley & Sons, Ltd.
Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, Via Jenner s/n, 09121 Cagliari, Italy.
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MeSH Terms
Chorionic Villi Sampling
DNA Mutational Analysis
Embryo Culture Techniques
Embryo Transfer
Embryo, Mammalian
Fertilization in Vitro
Pregnancy Outcome
Preimplantation Diagnosis / methods*
Sperm Injections, Intracytoplasmic
beta-Thalassemia / diagnosis*,  genetics*

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