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Correct prenatal diagnosis of a hurler fetus where amniotic fluid cell cultures were of maternal origin
Author(s) -
Mossman Jean,
Patrick A. D.,
Fensom A. H.,
Tansley Linda R.,
Benson P. F.,
Der Kaloustian V. M.,
Dudin Gertrud
Publication year - 1981
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970010206
Subject(s) - amniocentesis , amniotic fluid , fetus , hurler syndrome , pregnancy , andrology , prenatal diagnosis , in utero , medicine , obstetrics , biology , pathology , disease , genetics
Contamination of amniotic fluid cell cultures by maternal cells can be expected to lead to misdiagnosis of fetal genotype in 0·1 to 0·5/100 cultures, when assays are carried out directly on cultured cells. Chemical analysis of the cell‐free amniotic fluid supernatant may overcome this source of error and has the added advantages of speed and independence from amniotic cell culture failure. We describe a pregnancy at risk for Hurler's disease where amniotic cells cultured at amniocentesis had a female karyotype and an α‐iduronidase activity towards both phenyl and 4‐methylumbelliferyl substrates at the lower end of the normal range, suggesting a heterozygous fetus. An affected fetus was predicted, however, because of a high concentration of dermatan sulphate in the amniotic fluid. The discrepancy between these findings was shown to be due to maternal cell contamination of amniotic fluid cell cultures by the birth of a male infant with Hurler's disease.