Antenatal Diagnosis of Severe β Thalassemia During the First Trimester of Pregnancy

Abstract

Prenatal diagnosis of hemoglobinopathies may be obtained during the first trimester of pregnancy by a combination of chorion biopsy and DNA mapping. This study illustrates 2 DNA approaches which are available for identification of abnormal globin genes. These include restriction fragment length polymorphisms (RFLPs) and direct gene mapping.

Key Words:

• Antenatal diagnosis
• β thalassemia
• Hb Lepore
• first trimester
• chorion biopsy
• DNA
• genes
• restriction fragment length polymorphisms (RFLPs)