ReviewJournal of clinical medicine2018
From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.
Review in Journal of clinical medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 36 citations in OpenAlex.
- EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies.HemaSphere · 2026Article
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Thalassemia in Bangladesh: progress, challenges, and a strategic blueprint for prevention.Orphanet journal of rare diseases · 2025Review
- Thalassemia in Sub-Saharan Africa: epidemiology, diagnosis, and management - a narrative review.Annals of medicine and surgery (2012) · 2025Review
- New Entity-Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement.Diagnostics (Basel, Switzerland) · 2022Review
- Investigating the reasons for marriage among couples with thalassemia minor, in Iran.Journal of community genetics · 2021Article
- Changing patterns of thalassaemia in Italy: a WebThal perspective.Blood transfusion = Trasfusione del sangue · 2021Article
- Changing patterns in the epidemiology of β-thalassemia.European journal of haematology · 2020Review
- Maternal and neonatal outcomes associated with trophectoderm biopsy.Fertility and sterility · 2019Observational
- Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples.Journal of clinical medicine · 2019Article
- Use of an automated pyrosequencing technique for confirmation of sickle cell disease.PloS one · 2019Article
- Pregnancy in Thalassemia.Mediterranean journal of hematology and infectious diseases · 2019Review
- [Rapid preimplantation genetic diagnosis ofNan fang yi ke da xue xue bao = Journal of Southern Medical University · 2018Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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