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Studies on Cerebral Lipidosis Prenatal Diagnosis of Tay‐Sachs Disease *
Author(s) -
Yabuuchi Hyakuji,
Sumi Kiyoomi,
Kurachi Keiichi,
Hanai Jun
Publication year - 1971
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1971.tb02367.x
Subject(s) - medicine , amniocentesis , amniotic fluid , fetus , obstetrics , hexosaminidase , prenatal diagnosis , abortion , pregnancy , ganglioside , gynecology , andrology , biochemistry , genetics , chemistry , biology , enzyme
Summary In the attempt to diagnose TSD, amniotic fluid was obtained by amniocentesis in a mother whose first child was TSD. Amniotic fluid and uncultured amniotic cells showed absence of hexosaminidase A. The fetus was diagnosed as TSD and the pregnancy was terminated through artificial abortion. Hexosaminidase A in the fetal brain and liver was deficient and an increase of ganglioside G m2 was observed in the brain of the affected fetus.