Intrauterine Diagnosis of the Hurler and Hunter Syndromes

Chromosome Analysis Before Birth and Its Value in Genetic Counselling

“…Few studies of genetic counselling based on antenatal diagnosis have been reported (Jacobson and Barter, 1967;Valenti and Kehaty, 1969;Fratantoni et al, 1969;Butler and Reiss, 1970;Gertner et al, 1970;Nadler and Gerbie, 1970;Gerbie BRITISH MEDICAL JOURNAL 9 OCTOBER 1971. These studies are shown in Table IV (Hamerton, 1970), in practice (Table IV) one-third of such conceptions had an unbalanced chromosome constitution.…”

Chromosome Analysis before Birth and its Value in Genetic Counselling

“…Few studies of genetic counselling based on antenatal diagnosis have been reported (Jacobson and Barter, 1967;Valenti and Kehaty, 1969;Fratantoni et al, 1969;Butler and Reiss, 1970;Gertner et al, 1970;Nadler and Gerbie, 1970;Gerbie BRITISH MEDICAL JOURNAL 9 OCTOBER 1971. These studies are shown in Table IV and compared with the present series.…”

Prenatal diagnosis and genetic counselling

“…Enzymatic assay on cultured amniotic fluid cells is the method of choice. However, in Pompe's disease electron microscopic examination of glycogen accumulation in lysosomes has been made both in uncultured (Hug, Schubert, and Disorder Enzyme Deficiency Reference Generalized gangliosidosis, types I and 2 P-Galactosidase Kaback et al (1973) Lowden et al (1973) Booth et al (11973) Tay-Sachs disease (GM2 gangliosidosis type 1) Hexosaminidase A (1971) Krabbe's disease Galactysol ceramide 6-galactosidase Suzuki et al (1971) Metachromatic leukodystrophy Arylsulphatase A Van der Hagen et al (1973) Galactose-l-phosphate uridyl transferase Nadler (1968) Maple syrup urine disease Branched chain a-ketoacid decarboxylase Nadler and Gerbie (1970) Homocystinuria Cystathionine synthetase Uhlendorf (1970) Argininosuccinic aciduria Argininosuccinase Jacoby et al ( ) Goodman et al (1973 Propionic acidaemia Propionyl-CoA carboxylase Gompertz et al (1973) Methylmalonic acidaemia Methylmalonic acid Morrow et al (1970) Hurler's syndrome X Radioactive sulphate uptake into mucopoly- Fratantoni et al (1969) Hunter's syndrome f saccharides; mucopolysaccharide analysis of Matalon et al (1970) amniotic fluid Brock et al (1971) Matalon et al (1972 Acid phosphatase deficiency Lysosomal acid phosphatase Nadler and Egan (1970) Cystinosis Cystine incorporation Schulman et al (1970) Soukup, 1970) and in cultured cells (Nadler, Bigley, and Hug, 1970). In Hurler's and Hunter's syndromes the excessive incorporation of radioactive sulphate into the dermatan sulphate and heparan sulphate fractions of the intracellular mucopolysaccharides has been used, though there is no reason now why the deficient enzymes should not be directly measured.…”