| Autor: |
Jeppsson, J-O, Cordesius, E, Gustavii, B, Löfberg, L, Franzen, B, Strömberg, P, Sveger, T |
| Zdroj: |
Pediatric Research; March 1981, Vol. 15 Issue: 3 p254-256, 3p |
| Abstrakt: |
Summary: Two women had each borne a child who had alpha1-antitrypsin (α1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetescopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean α1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an α1AT concentration calculated as 0.60 g/liter, i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of α1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of α1AT deficiency.Speculation: Most of the alphal-antitrypsin in amniotic fluid is derived from the mother. It therefore appears that the only possible way of making a prenatal diagnosis of alphal-antitrypsin deficiency is by examination of blood from the fetus. One fetus examined in the present study had an abnormal Z-pattern. This abnormality may indicate a disturbance of fetal liver function already in utero. |
| Databáze: |
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