Prenatal diagnosis of Sanfilippo syndrome

John J. Hopwood

Research output: Contribution to journalReview article

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)148-150
Number of pages3
JournalPrenatal Diagnosis
Volume25
Issue number2
DOIs
Publication statusPublished - 1 Feb 2005

Keywords

  • Mucopolysaccharidosis type III
  • Prenatal diagnosis
  • Sanfilippo syndrome

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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