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This article discusses a study that aims to demonstrate the scientific validity of a novel cell-based non-invasive prenatal testing (cbNIPT) method for detecting fetal copy number variants (CNVs) using single cell sequencing of circulating extravillous trophoblasts (cEVTs). The study enrolled 1388 high-risk pregnancies and found a screen positive rate of 18.9% for aneuploidies and 11.2% for pCNVs. The results showed that cbNIPT was able to detect pCNVs <1 Mb in size, which is below the resolution of cell-free DNA screening. The authors conclude that analyzing cEVTs from maternal blood could significantly reduce the residual risk for pCNVs in early gestational weeks. [Extracted from the article]

Radiocarbon is one of the most widespread radionuclides in nature. Although it is probably best known for dating in archaeology, in the case of the general public, it represents a useful tracer to study our environment, both in the past and nowadays. For instance, carbonaceous particles, which are in many cases the most abundant among aerosols constituents, are believed to play a major role in both health and climatic effects of aerosols. In particular, measurement of radiocarbon concentration in particulate matter samples can give information on the contributions of the fossil fuels combustion and of natural sources to the carbonaceous fraction in aerosols. These measurements are especially effective when separately performed on different carbonaceous fractions, like elemental and organic carbon (EC and OC, respectively). Past climate is also studied thanks to old archives, as e.g. marine sediments can be. In this case, instead of radiocarbon dating the bulk sediment, a reliable method to fix chronological markers is represented by dating foraminifera tests of CaCO3 picked from different layers in the sediment. Both the aforementioned applications are characterized by the fact that the samples that can be collected for 14C measurements are typically very small, i.e. few mg or less (before any treatment). Accelerator Mass Spectrometry (AMS) is thus the only technique that can be applied to measure radiocarbon in such samples. Anyway, measurements cannot be so straightforward. In the case of the measurement of radiocarbon concentration in aerosol samples, a preparation line especially dedicated to the extraction of only the carbonaceous fraction of interest is mandatory. Actually, this line should include a combustion oven, from which either total carbon or EC and OC can separately evolve, and a system of traps to purify and collect the CO2. In the case of foraminifera tests (inorganic carbon), special care must be taken in the pre-treatment phase: foraminifera can be contaminated by heterogeneous materials, including organic matter too. Pre-treatment should thus remove all the possible contaminations without losing too much mass of the samples. Here we present an overview of the environmental radiocarbon applications the INFN-LABEC laboratory in Florence is involved in. 14C is measured by AMS, using the dedicated beam line installed at the 3 MV Tandem accelerator. In particular, details about the hardware and the experimental procedures are given.

It is reported that many infants with CDH have evidence of brain injury on postnatal brain magnetic resonance imaging (MRI). Results HT

To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner and according to IOTA terminology. Ovarian cysts with low level content could be managed expectantly, whereas ovarian cysts with other cyst content should be managed with postnatal surgery, due to the high risk of necrosis at final histology. [Extracted from the article]

Human cytomegalovirus (CMV) is a common herpesvirus causing lifelong latent infection in most people and is a primary cause of congenital infection worldwide. Given the role of NK cells in the materno-fetal barrier, we investigated peripheral blood NK cell behavior in the context of CMV infection acquired during pregnancy. We analyzed the NK phenotype and CD107a surface mobilization on PBMCs from CMV-transmitting and non-transmitting mothers and newborns with or without congenital infection. NK cells from non-transmitting mothers showed the typical phenotype of CMV-adaptive NK cells, characterized by higher levels of NKG2C, CD57, and KIRs, with reduced NKG2A, compared to transmitting ones. A significantly higher percentage of DNAM-1+, PD-1+, and KIR+NKG2A-CD57+PD-1+ CD56dim cells was found in the non-transmitting group. Accordingly, NK cells from congenital-CMV (cCMV)-infected newborns expressed higher levels of NKG2C and CD57, with reduced NKG2A, compared to non-congenital ones. Furthermore, they showed a significant expansion of CD56dim cells co-expressing NKG2C and CD57 or with a memory-like (KIR+NKG2A-CD57+NKG2C+) phenotype, as well as a significant reduction of the CD57-NKG2C- population. Degranulation assays showed a slightly higher CD107a geomean ratio in NK cells of mothers who were non-transmitting compared to those transmitting the virus. Our findings demonstrate that both CMV-transmitting mothers and cCMV newborns show a specific NK profile. These data can guide studies on predicting virus transmission from mothers and congenital infection in infants.

Hyaluronic acid (HA) naturally occurs as a biopolymer in the human body, primarily in connective tissues like joints and skin. Functioning as a vital element of synovial fluid, it lubricates joints, facilitating fluid movement and diminishing bone friction to protect articular well-being. Its distinctive attributes encompass notable viscosity and water retention capacities, ensuring flexibility and absorbing shock during motion. Furthermore, HA has gained significant attention for its potential benefits in various medical applications, including rehabilitation. Ongoing research explores its properties and functions, especially its biomedical applications in several clinical trials, with a focus on its role in improving rehabilitation outcomes. But the clinical and biochemical implications of HA in musculoskeletal rehabilitation have yet to be fully explored. This review thoroughly investigates the properties and functions of HA while highlighting its biomedical applications in different clinical trials, with a special emphasis on its role in rehabilitation. The presented findings provide evidence that HA, as a natural substance, enhances the outcomes of musculoskeletal rehabilitation through its exceptional mechanical and biochemical effects.

Some maternal infections, contracted before or during pregnancy, can be transmitted to the fetus, during gestation (congenital infection), during labor and childbirth (perinatal infection) and through breastfeeding (postnatal infection). The agents responsible for these infections can be viruses, bacteria, protozoa, fungi. Among the viruses most frequently responsible for congenital infections are Cytomegalovirus (CMV), Herpes simplex 1-2, Herpes virus 6, Varicella zoster. Moreover Hepatitis B and C virus, HIV, Parvovirus B19 and non-polio Enteroviruses when contracted during pregnancy may involve the fetus or newborn at birth. Recently, new viruses have emerged, SARS-Cov-2 and Zika virus, of which we do not yet fully know the characteristics and pathogenic power when contracted during pregnancy. Viral infections in pregnancy can damage the fetus (spontaneous abortion, fetal death, intrauterine growth retardation) or the newborn (congenital anomalies, organ diseases with sequelae of different severity). Some risk factors specifically influence the incidence of transmission to the fetus: the timing of the infection in pregnancy, the order of the infection, primary or reinfection or chronic, the duration of membrane rupture, type of delivery, socio-economic conditions and breastfeeding. Frequently infected neonates, symptomatic at birth, have worse outcomes than asymptomatic. Many asymptomatic babies develop long term neurosensory outcomes. The way in which the virus interacts with the maternal immune system, the maternal-fetal interface and the placenta explain these results and also the differences that are observed from time to time in the fetal‑neonatal outcomes of maternal infections. The maternal immune system undergoes functional adaptation during pregnancy, once thought as physiological immunosuppression. This adaptation, crucial for generating a balance between maternal immunity and fetus, is necessary to promote and support the pregnancy itself and the growth of the fetus. When this adaptation is upset by the viral infection, the balance is broken, and the infection can spread and lead to the adverse outcomes previously described. In this review we will describe the main viral harmful infections in pregnancy and the potential mechanisms of the damages on the fetus and newborn., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Background: Assisted reproductive technologies (ART) are becoming widespread, accounting for approximately 2% of all births in the western countries. Concerns exist on the potential association of ART with congenital anomalies. Few studies have addressed if a relationship exists between ART and the development of anorectal malformation (ARM). Our aim was to analyze the relationship between ARM and ART. Methods: Single-center retrospective case control study of all patients treated for ARM between 2010 and 2017. Patients with bronchiolitis treated since 2014 were used as controls. Variables analyzed include the following: prevalence of ART, gestational age, birth weight, and maternal age. Patients with ARM born after ART were also compared with those naturally conceived for disease complexity. Fisher's exact and Mann-Whitney U -tests were used as appropriate. Results: Three hundred sixty-nine patients were analyzed (143 cases and 226 controls). Prevalence of ART was significantly higher in ARM patients than in controls [7.6 vs. 3.0%; odds ratio: 2.59 (95% CI, 0.98-0.68); p = 0.05]. Among ARM patients, incidence of VACTERL association (17%) is more frequent in ART babies. Conclusion: Patients with ARM were more likely to be conceived following ART as compared with controls without congenital anomalies. Disease complexity of patients with ARM born after ART seems greater that those born after nonassisted conception., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Iacusso, Iacobelli, Morini, Totonelli, Viggiano, Caforio and Bagolan.)