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First‐trimester prenatal diagnosis of Sanfilippo C disease
Author(s) -
di Natale P.,
Pan N.,
D'Argenio G.,
Gattit R.,
Ricci R.,
Lombardo C.
Publication year - 1987
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.1970070811
Subject(s) - gestation , chorionic villi , chorionic villus sampling , prenatal diagnosis , medicine , pregnancy , fetus , first trimester , obstetrics , biopsy , gynecology , pathology , biology , genetics
At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl‐CoA: α‐glucosaminide N‐acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow‐up study on fetal fibroblasts confirmed the diagnosis.