Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy

A. Minelli, M. Piantanida, G. Simoni, F. Rossella, L. Romitti, B. Brambati, C. Danesino

Research output: Contribution to journalArticle

Abstract

Nine pregnancies at risk for various metabolic disorders were monitored by prenatal diagnosis on chorionic villi obtained between the sixth and ninth weeks of pregnancy. A diagnosis of an affected fetus was made in five cases (Sandhoff, Tay-Sachs (2), Pompe's, GM1), while metachromatic leukodystrophy, GM1 (2), and Pompe's were excluded in four cases. It is concluded that chorionic villi are a reliable tissue for prenatal diagnosis of metabolic disorders also when obtained before the ninth week.

Original languageEnglish
Pages (from-to)959-963
Number of pages5
JournalPrenatal Diagnosis
Volume12
Issue number11
DOIs
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Fingerprint Dive into the research topics of 'Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy'. Together they form a unique fingerprint.

  • Cite this