Corney G, Whitehouse D B, Hopkinson D A, Rodeck C H, Nicolaides K, Norman M, Mowat A P
Prenat Diagn. 1987 Feb;7(2):101-8. doi: 10.1002/pd.1970070206.
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.
1980年至1985年期间，采用蛋白质等电聚焦法进行胎儿血样采集以诊断α1抗胰蛋白酶缺乏症。报告了18位母亲的25例病例结果。所有母亲此前均有PiZ型孩子患肝病的病史。结果发现该方法在技术上令人满意，在所有18例可能进行随访的病例中，胎儿检测结果随后均得到证实。9例胎儿被检测为PiZ型，所有这些妊娠均被终止。其余妊娠中，3例流产或早产，13例足月分娩且无并发症。
