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Unlabelled: The present research provides empirical evidence of whether communicating the prenatal risk of chromosomal anomalies using comparison scenarios influences women's ability to distinguish between different risk levels. In 2 experiments, participants read a description of a hypothetical woman who was learning of the risk of chromosomal anomaly as a result of a prenatal screening test. Both experiments used a 3 (risk level) × 3 (scenario) full between-subjects design. In accordance with the experimental condition, participants were presented with a low (e.g., 1 in 5390), a medium (e.g., 1 in 770), or a high risk value (e.g., 1 in 110). Such risk values were presented either on their own or along with additional information illustrating a comparison scenario that provided 2 numerical comparison points. Participants were asked to evaluate the risk of chromosomal anomaly. In Experiment 2, participants' numeracy skills were also assessed., Results: showed that the use of comparison scenarios results in significant differences in perceived risk across risk levels whereas such differences are not significant without the comparison scenario, but such a technique has differential effects according to participants' capacity to deal with numbers. Although the technique is beneficial for high-numerate participants, it has no effect on low-numerate participants.

Gestational diabetes mellitus (GDM) is a metabolic alteration frequently found in pregnant women. In women with GDM, failure of pancreatic beta-cells to adapt the production of insulin at the increased metabolic demand in pregnancy, results in a inadequate insulin response, with consequent hyperglycemia. The criteria currently used for the diagnosis of GDM are too restrictive as some author suggested that different degrees of hyperglycemia, even though not diagnostic for diabetes, increase the risks of adverse perinatal outcomes (large for gestational age (LGA), higher rate of cesarean section, neonatal hypo-glycemia, respiratory distress, perinatal mortality). The objective of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study was to clarify the associations of levels of maternal glucose, lower than those diagnostic of diabetes, with perinatal outcome, defining a new overall strategy recommended for detection and diagnosis of hyperglycemic disorders in pregnancy.

The aim of this review is to summarize the principles of cytomegalovirus (CMV) infection in pregnancy.In particular, the aim of this review is to evaluate:Incidence and mother-to-child transmissionThe value of screening of pregnant womenDiagnosis of CMV maternal infectionDiagnosis of fetal infection (evaluate the value of ultrasound examination and amniocentesis and evaluate whether the amniotic viral load of mothers with primary cytomegalovirus infection correlate with fetal or neonatal outcomes)Diagnosis of infection in newbornsTherapy in pregnancy, postnatal therapy and prevention.

Background: A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools. From a large collection of human PCR samples we selected 343 PCR products belonging to 16 disease genes and including a large spectrum of sequence variations previously identified by Sanger sequencing. The sequence variants included SNPs and small deletions and insertions (up to 44 bp), in homozygous or heterozygous state., Results: The DNA was combined in 4 pools containing from 27 to 164 amplicons and from 8,9 to 50,8 Kb to sequence for a total of 110 Kb. Pyrosequencing generated over 80 million base pairs of data. Blind searching for sequence variations with a specifically designed bioinformatics procedure identified 465 putative sequence variants, including 412 true variants, 53 false positives (in or adjacent to homopolymeric tracts), no false negatives. All known variants in positions covered with at least 30x depth were correctly recognized., Conclusion: Massively parallel pyrosequencing may be used to simplify and speed the search for DNA variations in PCR products. Our results encourage further studies to evaluate molecular diagnostics applications.

The aim of this work was to develop advanced and accessible protocols for noninvasive prenatal diagnosis of genetic diseases. We are evaluating different technologies for mutation detection, based on fluorescent probe hybridization of the amplified product and pyrosequencing, a technique that relies on the incorporation of nucleotides in a primer-directed polymerase extension reaction. In a previous investigation, we have already proven that these approaches are sufficiently sensitive to detect a few copies of a minority-mutated allele in the presence of an excess of wild-type DNA, In this work, in order to further enhance the sensitivity, we have employed a mutant enrichment amplification strategy based on the use of peptide nucleic acids (PNAs). These DNA analogues bind wild-type DNA, thus interfering with its amplification while still allowing the mutant DNA to become detectable. We have synthesized different PNAs, which are highly effective in clamping wild-type DNA in the beta-globin gene region, where four beta-thalassemia mutations are located (IVSI.110, CD39, IVSI.1, IVSI.6) plus HbS. The fluorescence microchip readout allows us to monitor the extent of wild-type allele inhibition, thus facilitating the assessment of the optimal PNA concentration.

Background: In 2001 the General Health Direction of Region Lombardia approved (decree n. 22303) a guideline for the prevention of latex allergic reactions in patients and health care workers. This document provides general recommendations in order to standardize behaviors in regional health care facilities. The reason is due to a rise in the incident of reactions to latex products in the last 20 years. Nowadays the prevalence is higher in certain risk groups (subjected to frequent and repeated exposures) rather than the general population., Aim: The aim of the project was to organize a latex safe operating theatre in the Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena of Milan (Fondazione) and to standardize behaviors in order to prevent adverse effects in latex allergic patients., Materials and Methods: Thanks to the literature review and the creation of a multidisciplinar team, we produced a protocol. Therefore, we requested manufacturers the certification of the latex content of their products. Results and conclusion. When latex allergic patients need to undergone surgery in our hospital, a latex safe operating theatre is organized by personnel following a multidisciplinar protocol. No allergic reactions were experienced during surgical procedures after the creation of an environment as free as possible from latex contamination. The project will involve an emergency room, one room or more of a ward and of the outpatients department.