Premium
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis
Author(s) -
Elpeleg O. N.,
Shaag A.,
Anikster Y.,
Jakobs C.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00712008
Subject(s) - amniotic fluid , amniocentesis , prenatal diagnosis , fetus , cell free fetal dna , urine , pregnancy , genetics , dna , biology , andrology , obstetrics , microbiology and biotechnology , medicine , physiology , endocrinology
Summary Amniocentesis was performed in four pregnancies at risk for Canavan disease (CD). In all families both parents were of Ashkenazi‐Jewish origin and harboured the C854 mutation in the cDNA of the aspartoacylase gene. Using DNA analysis of the amniotic cells, three fetuses were predicted to be non‐affected and one fetus was predicted to be affected. The concentration of N ‐acetylaspartic acid (NAA) in the amniotic fluid was in agreement with these results. In urine samples of the three newborns predicted to be non‐affected, the concentration of NAA was normal. Tissues of the aborted fetus were not available. We conclude that DNA analysis is probably a reliable method for prenatal diagnosis of CD.