|
|||||
|
|
Prenatal diagnosis of alpha-1-antitrypsin deficiency by fetal blood sampling |
|
| Authors: | G Corney D B Whitehouse D A Hopkinson C H Rodeck K Nicolaides M Norman A P Mowat |
| Institution: | 1. M.R.C. Human Biochemical Genetics Unit, Galton Laboratory, University College London, Wolfon House, 4 Stephenson Way, London, NW1 2HE. U.K.;2. Harris Birthright Research Centre for Fetal Medicine, Departments of Obstetrics and Gynaecology, Chemical Pathology and Child Health, King's College Hospital, Denmark Hill, London, SE5 8RX, U.K. |
| Abstract: | 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. |
| Keywords: | Alpha-1-antitrypsin Prenatal diagnosis Fetal blood sampling Neonatal hepatitis |