Fabry's Disease: Antenatal Detection

  title={Fabry's Disease: Antenatal Detection},
  author={Roscoe O. Brady and B William Uhlendorf and Cecil B. Jacobson},
  pages={174 - 175}
A procedure is described for the intrauterine detection, at the 17th week of gestation, of a male fetus afflicted with Fabry's disease. The validity of this determination was substantiated by multiple enzyme and lipid analyses of tissue specimens obtained from the afflicted fetus. Fabry's disease may now be included with other X-linked metabolic deficiency diseases that are amenable to precise genetic counseling, through carrier identification, and the monitoring of ensuing pregnancies. 
Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi
Six pregnancies of three carriers for X‐linked Fabry's disease, were monitored by chromosome and enzyme analysis. Two affected male fetuses were detected by the demonstration of α‐galactosidaseExpand
An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques
In a pregnancy at risk for Fabry's disease, a prenatal diagnosis could be established 11 days after amniocentesis in the 15th week of pregnancy. This was possible by microchemical analysis of theExpand
Present status of intrauterine diagnosis of genetic defects.
A discussion from the literature of the intrauterine diagnosis of genetic defects by amniocentesis direct and indirect visualization of the fetus biological and cytological analysis of maternal bloodExpand
Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry's disease.
A microassay method for early prenatal diagnosis of inborn error of metabolism using cultured amniotic cells was developed and Fabry's disease was diagnosed prenatally, revealing that abnormal accumulation started early in the prenatal stage. Expand
Prenatal detection of genetic disorders.
  • H. Nadler
  • Medicine
  • Advances in human genetics
  • 1972
The prenatal detection of genetic disorders has become an area of increasing importance during the past few years thanks to the acceptance of transabdominal amniocentesis as a safe technique, advances in tissue culture technique markedly reducing the complexity of growing cells, micromethods for biochemical assays, and simplified methods for chromosomal analysis. Expand
Fabry's disease. A brief review in connection with a Scandinavian survey.
  • I. Helin
  • Medicine
  • Scandinavian journal of urology and nephrology
  • 1979
The possibility of enzyme replacement therapy and the potential value of renal transplantation are discussed, and prenatal diagnosis of Fabry's disease may also be possible. Expand
Prenatal diagnosis--a compilation of diagnosed conditions.
This article provides physicians with an up-to-date listing of 182 fetal conditions diagnosed prenatally and presents the technique(s) used to establish the diagnosis, as well as pertinent references. Expand
Prenatal Diagnosis of Genetic Disorders Leading to Mental Retardation
The acceptance of transabdominal amniocentesis as a safe procedure and advances in tissue culture techniques as well as micromethods for biochemical assays and chromosomal analysis have all contributed to the rapid advances in this field. Expand
Fibroblast α-galactosidase a activity for identification of Fabry's disease heterozygotes
There was complete discrimination between the ratio of α-galactosidase A to β-gal ACTS in cultured fibroblasts from five carriers of Fabry's disease and either 11 controls, seven hemizygote affected males or two of their female relatives. Expand
Prenatal diagnosis of hereditary disorders.
Aspects discussed include amniocentesis, indications for prenatal diagnosis, and direct methods of fetal visualization for accurate and relatively safe methods of intrauterine assessment of a variety of specific fetal parameters in early pregnancy. Expand


Intrauterine diagnosis and management of genetic defects.
A classification of the clinical conditions exhibiting a genetic risk of sufficient magnitude to warrant intrauterine analysis is given and sex chromatin was shown to be correlated with karyotypic and phenotypic sex when limited to the midgestational stage. Expand
Fabry's Disease: Alpha-Galactosidase Deficiency
The leukocytes of male patients with Fabry's disease are deficient in α-galactosidase. The α-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of theExpand
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
FABRY'S disease is a hereditary systemic disorder that was first recognized in affected males as a disease characterized by multiple small dark-purple macules and papules in the umbilical region, s...
Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease
Evidence of genetic inactivation at the α-galactosidase locus makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls. Expand
Chemistry of glycosphingolipids Fabry's disease.
Comparisons of the NMR spectra of trimethylsilyl derivatives of the lipids and several degradation products with those of reference compounds allowed the assignment of configurations of glycosidic linkages in the trihexosylceramide. Expand
Glycolipids and other lipid constituents of normal human liver.
An analysis of the lipids in normal human liver is presented which is particularly designed to assist in the classification and study of lipid-storage diseases. Special emphasis has been given to aExpand
The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide.
Abstract An enzyme that catalyzes the hydrolysis of the terminal galactose molecule of galactosylgalactosylglucosylceramide has been demonstrated in brain, liver, kidney, spleen, and small intestineExpand
Methods in Enzymology (Academic Press
  • New York, 1955),
  • 1970
Multiple reciprocal translocations were detected in the two affected Fl males References and Notes
  • Genetics
  • 1969