Human Reproduction, Vol. 17, No. 5, 1158-1165,
May 2002
© 2002 European Society of Human Reproduction and Embryology
Successful application of preimplantation genetic diagnosis for ß-thalassaemia and sickle cell anaemia in Italy
1 Unità di Medicina della Riproduzione, Associazione HERA, Catania, and 2 Servizio di Talassemia, Ospedale V. Cervello, Palermo, Italy
BACKGROUND: In Italy, the autosomal recessive diseases ß-thalassaemia and sickle cell anaemia are so widespread that in some regions they can be defined as `social diseases'. In this study, nine clinical applications of preimplantation genetic diagnosis (PGD) were performed for ß-thalassaemia and sickle cell anaemia on seven Sicilian couples and carriers of ß-globin gene mutations. METHODS AND RESULTS: The studied mutations were: Cd39, HbS, IVS1 nt1, IVS1 nt6 and IVS1 nt110. ICSI was performed with partner's sperm on 131 out of 147 retrieved oocytes, and this resulted in 72 zygotes; 32 embryos were successfully biopsied on day 3. The biopsied blastomeres were lysed and the ß-globin alleles amplified by nested PCR. The mutation diagnosis was performed by restriction enzyme digestion and reverse dot–blot. The amplification efficacy was 97.2%. The genotype study of non-transferred and surplus embryos showed that the allele drop-out rate was 8.6%. Seventeen embryos were transferred in utero on day 4. All couples received an embryo transfer; of the four pregnancies obtained, three resulted in live births and one miscarried at 11 weeks. Prenatal diagnosis at the 11th week and miscarriage material analysis confirmed the PGD results. CONCLUSIONS: These studies represent the first successful application of PGD for ß-thalassaemia and sickle cell anaemia in Italy.
Key words: allele drop-out/ß-thalassaemia/clinical application/preimplantation genetic diagnosis/sickle cell anaemia
3 Unità di Medicina della Riproduzione, Associazione HERA, Piazza Mancini Battaglia 5, 95123 Catania, Italy. E-mail: angugl{at}tin.it
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