title: Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.affiliation: Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, Via Jenner s/n, 09121 Cagliari, Italy. prenatalmonni@tiscali.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Monni
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Cau
authors.forename: Valeria
authors.initials: V
authors.lastname: Usai
authors.forename: Graziella
authors.initials: G
authors.lastname: Perra
authors.forename: Rosalba
authors.initials: R
authors.lastname: Lai
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Ibba
authors.forename: Valeria
authors.initials: V
authors.lastname: Faà
authors.forename: Federica
authors.initials: F
authors.lastname: Incani
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
mesh_terms: D001706:Biopsy; D015193:Chorionic Villi Sampling; D004252:DNA Mutational Analysis; D046149:Embryo Culture Techniques; D004624:Embryo Transfer; D004622:Embryo, Mammalian; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007558:Italy; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D020554:Sperm Injections, Intracytoplasmic; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*