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Early Prenatal Diagnosis of Inborn Error of Metabolism: A Case Report of a Fetus Affected with Fabry's Disease
Author(s) -
Tsutsumi Osamu,
Sato Masahito,
Sato Kodo,
Sato Kazuo,
Mizuno Masahiko,
Sakamoto Shoichi
Publication year - 1985
Publication title -
asia‐oceania journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 0389-2328
DOI - 10.1111/j.1447-0756.1985.tb00045.x
Subject(s) - inborn error of metabolism , fetus , prenatal diagnosis , pregnancy , fabry disease , enzyme assay , enzyme , amniotic fluid , medicine , metabolism , endocrinology , biology , physiology , disease , pathology , andrology , biochemistry , genetics
A microassay method for early prenatal diagnosis of inborn error of metabolism using cultured amniotic cells was developed and Fabry's disease was diagnosed prenatally. After several days of culture small freeze‐dried cell samples (about 1 μg of dry weight) were prepared and weighed on a quartz fiber fish‐pole balance, then incubated in 5μl of assay mixture in the microtube for a‐galactosidase. Severe deficiency of the enzyme activity and male karyotype suggested that the fetus was hemizygous. After termination of pregnancy, diagnosis was confirmed by proving the enzyme deficiency in various tissues. Morphological study revealed that abnormal accumulation started early in the prenatal stage.