Premium
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom