title: First trimester diagnosis of adenosine deaminase deficiency.
abstract: Adenosine deaminase deficiency has been detected in the first trimester by direct analysis of enzyme activity in chorionic villi in a pregnancy at risk. Data for purine nucleoside phosphorylase activity in chorionic villi from healthy controls in the first trimester are also presented and should allow equally rapid diagnosis of this disorder.
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics; D009700:Nucleoside Deaminases / Q000172:deficiency*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency
chemical_list: D011683:Purine-Nucleoside Phosphorylase; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase