Premium
Prenatal diagnosis of alpha‐1‐antitrypsin deficiency by fetal blood sampling
Author(s) -
Corney G.,
Whitehouse D. B.,
Hopkinson D. A.,
Rodeck C. H.,
Nicolaides K.,
Norman M.,
Mowat A. P.
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.1970070206
Subject(s) - fetus , medicine , prenatal diagnosis , alpha 1 antitrypsin deficiency , obstetrics , isoelectric focusing , alpha (finance) , sampling (signal processing) , pregnancy , blood sampling , gestation , pediatrics , surgery , gastroenterology , biology , biochemistry , genetics , construct validity , patient satisfaction , enzyme , filter (signal processing) , computer science , computer vision
Fetal blood sampling for the diagnosis of alpha‐1‐antitrypsin deficiency using protein isoelectric focusing was carried out in the period 1980–1985. The results of 25 cases from 18 mothers are reported. All had a previous history of a PiZ child affected by liver disease. The method was found to be technically satisfactory and the fetal results were subsequently confirmed in all 18 cases where follow‐up was possible. The fetus was found to be PiZ in nine cases and all these pregnancies were terminated. Of the remaining pregnancies three cases aborted or were delivered prematurely and 13 proceeded to term without complications.