Prenatal diagnosis of Sanfilippo syndrome.
The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III prenatal assessments. During this period, the technology used by us and others (Thompson et al., 1993; Kleijer et al., 1996) in these diagnoses has undergone considerable development in evolution. Our policy to maintain a close relationship between the provision of a diagnostic service and research to achieve an overall goal of early diagnosis and effective therapy have progressed both activities.
Hopwood
John J
JJ
Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia. john.hopwood@adelaide.edu.au
D015193:Chorionic Villi Sampling; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis