Fetal plasma carbonic anhydrase III in prenatal diagnosis of Duchenne muscular dystrophy. 1985

R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck

Carbonic anhydrase III (CAIII), a skeletal-muscle-specific enzyme which is elevated in the plasma of Duchenne muscular dystrophy (DMD) patients, was measured by radioimmunoassay in fetal plasma in order to evaluate its application to prenatal diagnosis of DMD. Using fetoscopy, pure fetal blood samples were taken at 17-24 weeks gestation from 25 fetuses at risk for DMD and from 78 control fetuses. Care was taken in the handling and storage of all samples. Normal sons were born in eight cases at risk for DMD. The CAIII levels in the infants were not significantly different from those of the control infants. Pregnancies were terminated in the remaining 17 at-risk cases. The CAIII levels in the fetuses were significantly different (p = 0.0034) from those of the control fetuses, although the distributions overlapped. Based on prior maternal risk, seven affected fetuses were expected in the terminated group; five had CAIII levels at or above the 95th centile of the control range. It is suggested that measurement of CAIII achieves partial discrimination between affected fetuses and their normal at-risk brethren.

UI MeSH Term Description Entries
D007527 Isoenzymes Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics. Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D008297 Male Males
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002256 Carbonic Anhydrases A family of zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide. They play an important role in the transport of CARBON DIOXIDE from the tissues to the LUNG. EC 4.2.1.1. Carbonate Dehydratase,Carbonic Anhydrase,Anhydrases, Carbonic,Dehydratase, Carbonate
D005260 Female Females
D005312 Fetal Blood Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the PLACENTA. The cord blood is blood contained in the umbilical vessels (UMBILICAL CORD) at the time of delivery. Cord Blood,Umbilical Cord Blood,Blood, Cord,Blood, Fetal,Blood, Umbilical Cord,Bloods, Cord,Bloods, Fetal,Bloods, Umbilical Cord,Cord Blood, Umbilical,Cord Bloods,Cord Bloods, Umbilical,Fetal Bloods,Umbilical Cord Bloods
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012306 Risk The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. Relative Risk,Relative Risks,Risk, Relative,Risks,Risks, Relative

Related Publications

R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
February 1985, Journal of the neurological sciences,
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
January 1992, Human genetics,
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
October 1986, American journal of medical genetics,
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
July 1985, American journal of medical genetics,
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
July 1977, Lancet (London, England),
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
January 1978, Lancet (London, England),
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
November 1977, Lancet (London, England),
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
January 2000, The National medical journal of India,
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
September 1985, Rinsho shinkeigaku = Clinical neurology,
R Heath, and N D Carter, and S Jeffery, and R J Edwards, and D C Watts, and R L Watts, and C Rodeck
February 1991, Molekuliarnaia genetika, mikrobiologiia i virusologiia,
Copied contents to your clipboard!