A study of factors influencing genetic counseling attendance rate has been conducted in the Bouches-du-Rhône area, in the south of France. In this area, a birth defects monitoring system (Eurocat n. 22) annually covers 23,000 births. All the genetic services are delivered by only one genetic center located in Marseilles, and the data collected are computerized. The comparison of these two data bases gives an opportunity to estimate the rate of genetic counseling attendance after the occurrence of an affected stillbirth or live birth. Among the parents of 358 infants born in 1983-84 in this area with a pathology requiring genetic counseling, 226 (63 per cent) attended the Genetic Center within the first year after birth. The rate of attendance is statistically higher (p less than 0.01) for the parents who had a stillbirth (78 per cent) than for those who had a live birth (57 per cent). It is also higher (p less than 0.01) for the Marseilles maternities group (68 per cent) than for the group outside Marseilles (50 per cent). The referral delays are also analyzed according to malformation etiology and to viability of the child by the eighth day of life. Besides evaluating a particular genetic center's effectiveness in diffusing information to the public concerned, this work shows that couples' request is strongly dependent on a psychological need.

Congenital Abnormalities↗

PubMedDate not supplied

Subcellular localization of class I (A,B,C) and class II (DR and DQ) MHC antigens in jejunal epithelium of children with coeliac disease.

Thin frozen sections of 11 jejunal biopsies from 10 children at different stages of coeliac disease were stained by immunofluorescence technique using a panel of anti-HLA class I (A, B, C) and anti-HLA class II (DR and DQ) monoclonal antibodies. On the epithelium of flattened mucosa, in contrast with control sections, the intensity of the labeling on the basolateral membranes with both anti-class I and class II DR antibodies decreased strongly from the bottom to the upper part of the crypts, and no bright patchy staining was observed on the apical part of enterocytes with anti-HLA DR antibodies. Numerous cells with large granules expressing class I and class II DR antigens were found in the epithelium of the small intestine. Children with a fully recovered mucosa expressed MHC antigens identical to those previously observed in normal epithelium. On the other hand, children with intermediate mucosal lesions showed the presence of MHC antigens in varying degrees. The results of this report indicate that immunological mechanisms may play a prominent role in coeliac disease.

Celiac Disease↗