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Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation
Author(s) -
Carey W. F.,
Nelson P. V.,
Raymond S.,
Morris C. P.
Publication year - 1990
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.1970100911
Subject(s) - cystic fibrosis , amniocentesis , prenatal diagnosis , amniotic fluid , pregnancy , medicine , fetus , gestation , mutation , pancreatic disease , gastroenterology , pathology , obstetrics , gene , biology , pancreas , genetics
A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell‐free amniotic fluid at both 18 and 20 weeks gestation gave equivocal results. The pregnancy was terminated voluntarily because of a trend towards abnormal enzyme assay results on the second amniocentesis. Retrospectively, fetal tissues were found to be homozygous for the most common mutation of the cystic fibrosis gene (AF 508 ), which confirmed the prenatal assessment and suggested that the first infant of the couple was probably also affected by the disease.