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Tay‐Sachs Disease: Prenatal Monitoring of a High Risk Pregnancy
Author(s) -
Wysocki S. J.,
Smith M.,
Michael C. A.,
Hockey A.,
Hähnel R.
Publication year - 1976
Publication title -
australian and new zealand journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.734
H-Index - 65
eISSN - 1479-828X
pISSN - 0004-8666
DOI - 10.1111/j.1479-828x.1976.tb02362.x
Subject(s) - prenatal diagnosis , hexosaminidase , tay sachs disease , disease , isozyme , pregnancy , fetus , medicine , obstetrics , enzyme , biology , pathology , genetics , biochemistry
Summary: A patient with a high‐risk pregnancy for Tay‐Sachs disease was monitored and the correct diagnosis of a normal heterozygous fetus was made. A false overestimation of the enzyme which is deficient in this disease can result if a heat denaruration method of assay is used. Thus, whilst this method of analysis of hexosaminidase A activity yields useful information, electrophoretic separation of the individual hexosaminidase isozymes is necessary for the accurate diagnosis of this condition.