Article
Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population.
European journal of human genetics : EJHG - 1 May 2017
Saba Luisella, Masala Maddalena, Capponi Valentina, Marceddu Giuseppe, Massidda Matteo, Rosatelli Maria Cristina
Abstract excerpt
β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB variant c.118C>T, which is the most common in Sardinia. In this study, we describe for the first time the application of...
Topics
- Feasibility Studies
- Female
- Genetic Testing
- Haplotypes
- Hemoglobins, Abnormal
- Humans
- Italy
- Polymorphism, Single Nucleotide
- Pregnancy
- Prenatal Diagnosis
- Semiconductors
- Sequence Analysis, DNA
- beta-Thalassemia