title: First trimester diagnosis of beta-thalassaemia in a twin pregnancy.
abstract: This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous beta 0-thalassaemia (beta 0-39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the beta-39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the alpha-globin gene provided useful genetic markers for twin differentiation.
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D004200:Diseases in Twins; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011272:Pregnancy, Multiple; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics; D014327:Trophoblasts / Q000032:analysis; D014427:Twins
chemical_list: D004247:DNA