β-Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

✍ Scribed by H. W. F. van Eyndhoven; H. G. ter Brugge; A. J. van Essen; W. J. Kleijer

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 118 KB
• Volume: 18
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199809)18:9<959::aid-pd372>3.0.co;2-i

✦ Synopsis

We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and beta-glucuronidase deficiency in chorionic villi indicated that the fetus was affected. After termination in the 12th week, signs of early hydrops fetalis were observed.