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RESEARCH PRODUCT
Fetal presentation of Morquio disease type A.
Susanne BraunAdrian C. SewellEberhard MerzMichael BeckElisabeth YoungWiltrud Coerdtsubject
ElectrophoresisMalemedicine.medical_specialtyAmniotic fluidPlacentaMucopolysaccharidosis type IVNeuraminidasePrenatal diagnosisConsanguinityPregnancyHydrops fetalisInternal medicineLysosomal storage diseaseMedicineHumansChildGenetics (clinical)GlycosaminoglycansUltrasonographyFetusPregnancybusiness.industryObstetrics and GynecologyAscitesMucopolysaccharidosis IVmedicine.diseaseAmniotic Fluidbeta-GalactosidaseEndocrinologyKeratan SulfatePregnancy Trimester SecondMucopolysaccharidosis IVAmniocentesisFemaleSulfatasesbusinessdescription
A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1992-12-01 | Prenatal diagnosis |