N.C. Nevin

RAISED ALPHA‐FETOPROTEIN LEVELS IN AMNIOTIC FLUID AND MATERNAL SERUM IN A TRIPLET PREGNANCY IN WHICH ONE FETUS HAD AN OMPHALOCOELE

During the second pregnancy of a 31‐year‐old patient, who already had a child with hydrocephalus, the ultrasonic scan at 16 weeks gestation demonstrated the possibility of triplets. Raised amniotic fluid and maternal serum alpha‐fetoprotein concentrations were observed at 16 and 17 weeks gestation. The pregnancy was terminated at 17 weeks gestation and one of the fetuses had an extensive omphalocoele, radial aplasia and digital abnormalities.

ISOLATED ABSENCE OF IgA WITH AUTOSOMAL DOMINANT INHERITANCE

Abstract A family is described in which five members from two generations have an isolated absence of IgA. The mode of inheritance is as an autosomal dominant trait. Clinically, the affected individuals have adult coeliac disease, pernicious anaemia, recurrent sinopulmonary infections, or asthma and eczema.

Alpha1 antitrypsin phenotypes in Northern Ireland

Serum alpha1 antitrypsin levels and phenotypes were examined in 1000 healthy adults in Northern Ireland. The Pi phenotype M accounted for 87-8% Pi MS for 7-3% and Pi MZ for 3-5%. The percentages of the rarer phenotypes were Pi FM 0-3, Pi IM 0-6, Pi SZ 0-4 and Pi Z--0-1. The range of alpha1 antitrypsin levels in different phenotypes showed considerable overlap. Pi MS, Pi MZ and Pi SZ sera gave mean levels of 81%, 61% and 40% respectively of the mean level obtained in Pi M sera and that of the Pi Z--minus serum, 5%. Two distinct types of anomalous pattern were encountered in sera from ten subjects.