First-trimester screening for Down syndrome using nuchal translucency measurement with free beta-hCG and PAPP-A between 10 and 13 weeks of pregnancy--the combined test.

In a population of 1467 women attending the 'G. Gaslini' Institute for antenatal care, we evaluated first-trimester risk screening for Down syndrome using the 'combined test' based on ultrasound measurement of nuchal translucency (NT), maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG, and maternal age. No clinical action was taken on these results. The gestational age, determined by scan measurement of crown rump length, ranged from 10 weeks to 13 weeks 6 days. The median maternal age was 31 years 8 months. There were 13 Down syndrome pregnancies. The risk of having an affected pregnancy was estimated from a multivariate Gaussian distribution, using commercially available software. With a risk cut-off of 1 in 350, 11 affected pregnancies were detected (detection rate 85 per cent, 95 per cent confidence interval: 56-100 per cent) with a 3.3 per cent false-positive rate. The odds of being affected given a positive result were 1 in 30. Further data are needed to determine, with greater statistical reliability, the relative performance of the combined test with current second-trimester screening.

Paediatric reference values for urinary catecholamine metabolites evaluated by high performance liquid chromatography and electrochemical detection.

The majority of the published reference range data on catecholamines excretion by healthy children is incomplete and often contradictory (1). We assayed in the urines of 127 healthy children the values of the catecholamines (norepinephrine, epinephrine, dopamine) and their methylated metabolites (normetanephrine, metanephrine, 3-methoxytyramine) for the determination of paediatric reference ranges. Data were expressed as micrograms/24 h, mumol/24 h and mmol/mol creatinine. An isocratic HPLC procedure by ion-pair reversed phase chromatography on a C18 column, using a single mobile phase containing formic acid, acetonitrile, diethylamine and octane sulphonic acid (ion pairing agent), permitted the separate assay of the various fractions of total catecholamines. The relations between each biogenic amine and age were studied and reference values were determined as a function of age.

Syndromic variability of Wilson's disease in children. Clinical study of 44 cases.

BACKGROUND: In children with Wilson's disease, no clinical or laboratory data are specific for diagnosis as in adult age. AIM: Clinical aspects and parameters of copper metabolism in a large series of pediatric cases are evaluated to establish certain criteria for diagnosis and for correct treatment, even in difficult cases. METHODS: In 44 children with Wilson's disease, clinical aspects, histological features, laboratory parameters and data of copper metabolism have been studied. Forty patients, treated with penicillamine, were followed up (median 77 months). RESULTS: The 44 cases were classified as: asymptomatic forms (nine cases, six of them siblings of affected subjects), chronic hepatitis (23 cases), hepatocerebral manifestations (four cases), decompensated cirrhosis (six cases), fulminant hepatic failure with hemolytic anemia (two cases). Ceruloplasmin levels were abnormal in 37 out of 43 tested cases, but normal in six (14%) who showed high basal and after penicillamine load urine copper excretion and increased hepatic copper content. Urine copper concentration was pathological in 35 out of 42 tested cases (83%), but normal in seven patients under six years. Hepatic copper levels were very high in all the 20 tested patients. Under treatment, 27 children had favourable outcome. One patient showed no evolution of disease, seven patients worsened because of non-compliance to the therapy (one underwent successful liver transplantation) or severe side effects. Five patients with failure died. CONCLUSIONS: Wilson's disease in children may present with a broad clinical spectrum, but the liver involvement is by far the most prevalent. The early diagnosis, based on clinical suspicion and results of copper metabolism investigation (including hepatic copper content evaluation in difficult cases) and appropriate treatment can prevent the progression of the disease.

Quantitative determination of fibronectin (FN): evaluation of immunoturbidimetric and rate nephelometric techniques for FN assay in the different biologic materials.

Aim of this study is to determine fibronectin concentration in the different biological materials to study its changes in the anatomic districts where the cell interactions in which FN participates do occur. The traditional immunoturbidimetric method and the nephelometric method are compared. An alternative method using a support for the collection of very small samples is proposed and the results obtained are discussed. This approach with solid phase immunonephelometry can be used both in amounts of biological fluids too small for traditional methods and in concentrations < 4.5 mg/dL. It is hoped that less complex techniques will be studied, allowing routine tests that can be performed by all laboratories. Unfortunately, at present this method is still investigated, however, it would be useful to adopt it in case of difficult sample collection.