Antenatal diagnosis of severe beta thalassemia during the first trimester of pregnancy.
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.
D001706:Biopsy; D002824:Chorionic Villi / Q000032:analysis*; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D004247:DNA; D004262:DNA Restriction Enzymes