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J. Clin. Med. 2018, 7(2), 35; https://doi.org/10.3390/jcm7020035

From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

Department of Prenatal and Preimplantation Genetic Diagnosis and Fetal Therapy, Microcitemico Pediatric Hospital, Cagliari 09121, Italy
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Received: 4 January 2018 / Revised: 15 February 2018 / Accepted: 18 February 2018 / Published: 20 February 2018
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Abstract

The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by β-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP) in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD) was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of β-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder. View Full-Text
Keywords: β-thalassemia; prenatal diagnosis; genetic disease; chorionic villous sampling; amniocentesis; fetal blood sampling; pre-implantation genetic diagnosis; DNA; polymerase chain reaction β-thalassemia; prenatal diagnosis; genetic disease; chorionic villous sampling; amniocentesis; fetal blood sampling; pre-implantation genetic diagnosis; DNA; polymerase chain reaction
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Monni, G.; Peddes, C.; Iuculano, A.; Ibba, R.M. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience. J. Clin. Med. 2018, 7, 35.

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