First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

A. Minelli, C. Danesino, F. Lo Curto, P. Tenti, C. Zampatti, G. Simoni, F. Rossela, A. Fois

Research output: Contribution to journalArticle

Abstract

Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-α-D-glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.

Original languageEnglish
Pages (from-to)47-52
Number of pages6
JournalPrenatal Diagnosis
Volume8
Issue number1
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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  • Cite this

    Minelli, A., Danesino, C., Lo Curto, F., Tenti, P., Zampatti, C., Simoni, G., Rossela, F., & Fois, A. (1988). First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B. Prenatal Diagnosis, 8(1), 47-52.