Chromosome microarray analysis as first-line test in pregnancies with a priori low risk for detection of submicroscopic chromosomal abnormalities

n this study, we aimed to explore the utility of chromosomal microarray analysis (CMA) in groups of pregnancies with a priori low risk for detection of submicroscopic chromosome abnormalities, usually not considered an indication for testing, in order to assess whether CMA improves the detection rate of prenatal chromosomal aberrations. A total of 3000 prenatal samples were processed in parallel using both whole-genome CMA and conventional karyotyping. The indications for prenatal testing included: advanced maternal age, maternal serum screening test abnormality, abnormal ultrasound findings, known abnormal fetal karyotype, parental anxiety, family history of a genetic condition and cell culture failure. The use of CMA resulted in an increased detection rate regardless of the indication for analysis. This was evident in high risk groups (abnormal ultrasound findings and abnormal fetal karyotype), in which the percentage of detection was 5.8% (7/120), and also in low risk groups, such as advanced maternal age (6/1118, 0.5%), and parental anxiety (11/1674, 0.7%). A total of 24 (0.8%) fetal conditions would have remained undiagnosed if only a standard karyotype had been performed. Importantly, 17 (0.6%) of such findings would have otherwise been overlooked if CMA was offered only to high risk pregnancies.The results of this study suggest that more widespread CMA testing of fetuses would result in a higher detection of clinically relevant chromosome abnormalities, even in low risk pregnancies. Our findings provide substantial evidence for the introduction of CMA as a first-line diagnostic test for all pregnant women undergoing invasive prenatal testing, regardless of risk factors

TIME OF VICTIM’S DNA PERMANENCE IN JAWS OF ATTACKER DOGS.

Dogs attacks against humans represent a serious social, healthy and legal issue. During the last ten years more than ten lethal attacks occurred in Italy [1-3]. In order to fight this serious phenomenon, we need to use severe civil and criminal punishments towards anyone may omit, because of fraud or negligence, any measure to prevent or avoid aggressiveness events. Often these events remain unpunished as consequence of the impossibility to identify the animal makers of the tragedy and, consequently, the legal entities who are responsible of the management of the same. In the event of a legal dispute, presence of the victim’s DNA, in the jaw of the dog attacker, may represent an indisputable date in order to give the relevant responsibilities. The objective of this work is to confirm the possibility of revealing the presence of the DNA of a hypothetical victim in the jaws of an aggressor dog and quantify the time in order to be able to give a precise indication on the useful technical time to prove the participation of one or more animals to an attack on people. Ten dogs were given the opportunity to belabor a simulacrum of a victim consists of a piece of beef. Subsequently they were performed on these dogs of the dento-gingival swabs at established times. Swabs was performed is the DNA extraction with subsequent search of STRs cattle. Our analysis shows that the bovine DNA traces persist in the dogs mouth up to an hour and a half after the attack simulation. Therefore, the method of investigation we propose to prove the dog or the dogs responsible of the attack was revealed efficient, provided that the swabs are made promptly

Adrenomedullin in human male reproductive system

To investigate adrenomedullin (AM) localization and distribution in human male reproductive system and to determine whether seminal fluid AM concentration correlates with sperm parameters. Plasma and semen samples (n = 19) obtained from healthy volunteers with normal seminal fluid parameters were assayed for AM using a specific RIA. AM immunostaining was sought on sections of penile cavernous bodies and testicular tissues obtained postmortem from four young males after accidental death using a polyclonal antibody to AM 1-52. Mean AM concentration in seminal plasma was 209.4+/-46.6 pg/ml, 8-9-fold higher than in circulating plasma and correlated with sperm motility (r = 0.715, p < 0.01). Endothelial cells of cavernous vessels stained for AM. Intense AM immunostaining was found in germinal cells and in peritubular myocytes and Leydig cells in the testis. These findings demonstrated for the first time that AM is localized in human male reproductive system. The local secretion of AM suggests that AM may contribute either in the penile erection and in the regulation of testicular function and sperm motility

Heavy metals in human amniotic fluid: A pilot study

Objective Many heavy metals are essential nutrients for a healthy life. However, significant evidence supports prolonged prenatal exposure as a risk factor for several adverse health effects. The aim of this study is to evaluate the presence of heavy metals in human amniotic fluid (AF) to demonstrate that there is an early fetal in utero exposure. Methods The concentrations of a variety of heavy metals, including Be, Ag, Ba, Pb, U, Hg, Sr, Cu, Mn, V, Pd, Sn, Sb, Te, Pt, Sc, Tl, Ni, As, Co, Zn and Se, were measured in 25 AF samples obtained from amniocentesis between 15 and 18 weeks of gestational, after informed consent. Results Be, Ag, Ba, Pb, U, Cu, Sr, Mn, V, Sn, Te, Pt, As, Tl, Sb, Co, Se and Zn concentrations were detected in measurable amounts in second trimester AF. Mg levels are elevated in all samples. Pd, Ni, Sc and Hg concentrations are below the detection limits in all samples. Conclusion This study demonstrates that heavy metals pass into and accumulate in AF from a very early stage of gestation. Other studies are needed to evaluate the long-term health effects of this early exposure. Copyright (C) 2011 John Wiley & Sons, Ltd