Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi.
- 1 February 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (1) , 52-54
- https://doi.org/10.1136/jmg.23.1.52
Abstract
A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease was investigated using samples of chorionic villi obtained during the eighth week of pregnancy. Adenosine deaminase levels suggested that the fetus was a probable carrier and that a diagnosis of severe combined immunodeficiency disease could be excluded. Enzyme and chromosome results were available within 24 hours of the chorionic villous sampling procedure, and were confirmed on amniotic fluid cell cultures after amniocentesis at 17 weeks'' gestation and on cord blood at delivery.This publication has 10 references indexed in Scilit:
- FIRST TRIMESTER DIAGNOSIS OF HUNTER SYNDROME ON CHORIONIC VILLIThe Lancet, 1984
- PRENATAL-DIAGNOSIS OF 3 CASES OF SEVERE COMBINED IMMUNODEFICIENCY - SEVERE T-CELL DEFICIENCY DURING THE 1ST-HALF OF GESTATION IN FETUSES WITH ADENOSINE-DEAMINASE DEFICIENCY1984
- HANDLING CHORIONIC VILLI FOR DIRECT CHROMOSOME STUDIESThe Lancet, 1983
- PRENATAL DIAGNOSIS OF IMMUNODEFICIENCY DISORDERSBritish Medical Bulletin, 1983
- Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal bloodBioscience Reports, 1983
- Prenatal diagnosis for adenosine deaminase deficiency.Journal of Medical Genetics, 1981
- Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassayClinical Genetics, 1980
- ADENOSINE-DEAMINASE DEFICIENCY IN A CHILD DIAGNOSED PRENATALLYThe Lancet, 1975
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951