Next Article in Journal
Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment
Previous Article in Journal
Influence of Iron Deficiency on HbA1c Levels in Pregnant Women: Comparison with Non-Pregnant Women
Review

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
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2018, 7(2), 35; https://doi.org/10.3390/jcm7020035
Received: 4 January 2018 / Revised: 15 February 2018 / Accepted: 18 February 2018 / Published: 20 February 2018
(This article belongs to the Section Hematology)
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
Show Figures

Figure 1

MDPI and ACS Style

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. https://doi.org/10.3390/jcm7020035

AMA Style

Monni G, Peddes C, Iuculano A, Ibba RM. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience. Journal of Clinical Medicine. 2018; 7(2):35. https://doi.org/10.3390/jcm7020035

Chicago/Turabian Style

Monni, Giovanni, Cristina Peddes, Ambra Iuculano, and Rosa Maria Ibba. 2018. "From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience" Journal of Clinical Medicine 7, no. 2: 35. https://doi.org/10.3390/jcm7020035

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop