Maternal serum markers. Estimation of the risk of Down's syndrome: a prospective study.

The risk of Down's syndrome pregnancies can be estimated by quantitation of maternal serum markers, namely alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin (triple test). A prospective study of 2892 pregnant women (median age 33.5 years) is reported. The detection rate of Down's syndrome pregnancies was 80% (confidence intervals 45%-100%) when a risk of 1:380 or greater was considered "screen positive", the false positive rate was 13.3% (confidence intervals 12.0%-14.5%). The importance of the accurate assessment of gestational age and the time of blood sampling are emphasized. Our findings are compared with similar studies performed in other laboratories.

[Variations in ferritin levels in blood during physiological pregnancy]. / Variazione dei livelli di ferritinemia nella gravidanza fisiologica.

Iron deficiency anemia is the most frequent haematological pathology in pregnancy. Serum ferritin levels represent the state of iron deposits. Low levels are a sure sign of iron deficiency. At the University of Turin we studied the variations of serum ferritin levels during physiological pregnancy and the sensitivity of routine blood tests with respect to serum ferritin levels. Routine haematological blood values along with ferritin levels were measured in 115 patients throughout pregnancy. The mean serum ferritin level was 56 ng/ml in the first trimester, 27.2 ng/ml in the second and 11.8 ng/ml in the third. The incidences of anemia per trimester was 6.6%, 4.8% and 49% respectively (p less than 0.05, chi squared). Our results show that it is important to evaluate iron deposits early in pregnancy by measuring serum ferritin levels in order to determine the need for iron therapy.

Screening for fetal Down's syndrome with maternal serum markers--an experience in Italy.

The effectiveness of maternal serum alpha-fetoprotein, unconjugated oestriol, and human chorionic gonadotrophin in screening for Down's syndrome (DS) was evaluated on 840 women who underwent amniocentesis for fetal karyotype on account of their age. The risk of a DS pregnancy was established using the method of Wald et al. (1988b), which combines the age-specific risk with that indicated by the levels of the three serum markers. In women over 35, at cut-off risk levels of 1:250 and 1:380, the false-positive rate was 24 and 34 per cent, respectively. In all nine cases of DS, the estimated risk was higher than 1:250. The best screening strategy with the lowest false-positive rate was obtained by combining the three serum markers. The results suggest that this kind of screening can be proposed during genetic counselling for women under 35 and older women wishing to avoid the risk of miscarriage induced by amniocentesis.

[TRH stimulation test in the diagnosis of hyperthyreosis]. / Il test di stimolazione con trh nella diagnostica delle ipertireosi.

After a review concerning the present knowledge on the hypothalamic peptide releasing hormones, the response of TSH to intravenous administration of TRH in man (Thyreotrophin Releasing Hormone Stimulation Test) is discussed, with regard to clinical endocrinology. Personal investigations with the TRH test were carried out in 3 groups of conditions correlated with thyroid hyperfunction: 1) suspected hyperthyroidism with equivocal routine tests (9 subjects); 2) autonomous thyroid decompensated adenoma, with or without clinical hyperthyroidism (5 subjects); 3) thyrotoxicosis (Graves' disease) in remission phase after pharmacological or surgical treatment (10 subjects). In these conditions the test provided useful diagnostic information for appropriate therapeutical decisions.

[Association of adult obese-type diabetes and depressive psychosis (clinical cases)]. / Sulla associazione tra diabete tipo adulto-obeso e psicosi depressiva (casistica clinica).

The conception of a specific association between maturity-onset diabetes and manic-depressive psychosis, on a common basis with diencephalic functional obesity, has been recently taken again in consideration by the psychiatric literature. Investigations on this problem from diabetological point of view have been so far completely lacking, and are proposed with the present study. Symptomatic depressive conditions in diabetes are frequent and should be primarily separated from depressive endogenous psychosis. The pathogenesis of the association between diabetes of the adult-obese type and psychosis might be discussed according to a transactional theoretical model, assuming a positive feed-back mechanism of the two relationships: diabetes-psychosis and psychosis-diabetes. With these criteria, 4 observations of the clinical association were collected out of 274 admissions for diabetes, during 1976. Diabetes is intended as overt diabetes; obesity presented with the stenic picture; psychosis had a monopolar melancholic course. Similar clinical features were characteristic in all cases. The relationship diabetes-psychosis showed no evidence, unless importance should be given to a potential diabetes in 3 cases. On the contrary, the relationship psychosis-diabetes could be demonstrated in the four cases. A psychosomatic scheme connecting the neuro-hormonal correlations to a genetically conditioned exhaustion of the beta-function, is postulated. During melancholic recurrences, diabetes proved to be insulin-dependent and even insulin-resistent in 2 cases. Tricyclic antidepressant theraphy did not modify the metabolic situation.