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First-trimester diagnosis of Morquio disease type A

✍ Scribed by W. J. Kleijer; G. C. Geilen; V. Garritsen; J. G. M. Huijmans; F. J. Los; Y. V. Voznyi; O. P. van Diggelen

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 44 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(200003)20:3<183::aid-pd774>3.0.co;2-j

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✦ Synopsis

Since the introduction in 1990 of a novel ¯uorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in ®ve cases. The results indicated an affected fetus in one pregnancy which represents the ®rst case of ®rst-trimester diagnosis of this disorder; heterozygosity was demonstrated in two cases. Following amniocentesis, two affected fetuses and one heterozygote were diagnosed. The results of the present prospective prenatal analyses con®rm our previous retrospective studies and demonstrate the reliability and convenience of the 4-methylumbelliferyl substrate.

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