First-trimester prenatal diagnosis of severe alpha-thalassemia.
By means of chorion biopsy together with restriction endonuclease analysis of fetal DNA, first trimester diagnoses were successfully made in 33 fetuses at risk for Bart's hydrops fetalis. Seven pregnancies with Hb H or hydrops fetalis were therapeutically terminated before 4 1/2 months of gestation. Of the 26 pregnancies intended to continue, 18 have come to term with normal deliveries; one with threatened abortion was terminated at the end of the first trimester and, seven are progressing normally.
D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology*; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D004487:Edema / Q000175:diagnosis; D005260:Female; D005838:Genotype; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis*; D014327:Trophoblasts / Q000473:pathology
D004262:DNA Restriction Enzymes