Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases.

INTRODUCTION: Non-Invasive Prenatal Screening (NIPS) is a useful screening method for common aneuploidies that can occur in pregnancies. It yields high sensitivities and specificities for the targeted conditions it tests for. Most commonly, these include Trisomies in chromosomes 21, 18, and 13, as well as aneuploidies in chromosomes X and Y. It does not, however, replace diagnostic testing. We review four cases seen by our institutions of patients who had NIPS performed with low-risk results and subsequently had fetuses affected with trisomy 18. METHODS: All fetal samples were evaluated by level II anatomic ultrasound and tested on amniocytes or products of conception through karyotype or chromosomal microarray following low-risk NIPS. RESULTS: None of the fetuses showed evidence of mosaicism and had features (both on ultrasound and postnatally) consistent with Trisomy 18. Postnatal fluorescence in situ hybridization performed on Formalin-Fixed Paraffin-Embedded tissue from 3 of the affected pregnancies' placentas identified mosaicism of trisomy 18. DISCUSSION: We discuss the possible explanations for the discrepancy between NIPS results and fetal karyotype, including, but not limited to placental mosaicism, placental size, and limitations of NIPS as a screening test.

Reproductive outcomes in individuals with chromosomal reciprocal translocations.

PURPOSE: Patients with reciprocal balanced translocations (RBT) have a risk for recurrent pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based on karyotypes found among the products of conception (POC), although factors influencing the success of assisted reproductive technologies (ART) in RBT couples are not established. METHODS: Cytogenetic results from 261 POC and offspring of the parents (113 women and 90 men) with RBT were evaluated. Chromosome segregation modes and number of euploid embryos were assessed in couples undergoing in vitro fertilization. RESULTS: Patients with translocations involving an acrocentric chromosome have a higher risk of unbalanced gametes caused by a 3:1 segregation. Female RBT patients have a statistically higher risk of aneuploidy due to an interchromosomal effect. The rate of euploid embryos is low due to meiosis I malsegregation of RBT, meiosis II nondisjunction, additional whole chromosome or segmental aneusomies. RBT patients with RPL have a higher rate of miscarriage of euploid fetuses with RBT. CONCLUSION: Chromosome-specific factors, female gender, age, and history of RPL are the risk elements influencing pregnancy and in vitro fertilization success in RBT patients. Chromosomal microarray analysis of POC is necessary to provide an accurate and timely diagnosis for patients with adverse reproductive outcomes.

Assessing transgender and gender non-conforming pedigree nomenclature in current genetic counselors' practice: The case for geometric inclusivity.

Healthcare professionals rely on national organizations for guidance; the National Society of Genetic Counselors (NSGC) and the National Comprehensive Cancer Network (NCCN) have differing guidelines for acceptable pedigree symbols to represent transgender patients and minimal recommendations for gender non-conforming (GNC) patients. Inconsistency in accepted pedigree symbols to represent these patients is a barrier to providing them appropriate care. We assess variability in pedigree practice among genetic counselors and students, as well as reported education on serving the needs of the transgender and GNC communities, through a survey distributed through NSGC. Participants felt symbols similar to NSGC's (41.1%) and NCCN's (29.7%) recommendations for transgender patients are appropriate and emphasized a desire to affirm gender identity. We identified greater variability in symbols representing a GNC patient; 19.2% of participants selected 'other', explaining they were unsure of the appropriate choice. A high interest (99%) in further training demonstrates a recognition of education as an effective strategy for improving awareness and competency. Promotion of existing resources could help address the fact that 81% of participants were unaware of any standardized symbols used to represent transgender individuals. Creating affirming, standardized pedigree nomenclature is necessary for appropriate and consistent care.

Improvement of taste and shelf life of yeasted low-salt bread containing functional sourdoughs using Lactobacillus amylovorus DSM 19280 and Weisella cibaria MG1.

The challenge remains for the baking industry to reduce salt levels in yeasted bread as directed by governments, retailers and consumers around the world. The two main problems associated with the reduction of salt are a lack of salty taste and the reduction in shelf-life. Both of these issues are addressed in the presented work. A range of breads containing different levels of salt (0.0%, 0.3% and 1.2% of NaCl) in combination with various levels of sourdough (0%, 6%, 12%, 18%, 24%) was produced. The different doughs were analysed for their rheological behaviour. The bread quality characteristics such as loaf volume, crumb structure, staling rate and microbial shelf life were also determined. The sourdoughs were analysed for their different metabolites: organic acids, sugars, exopolysaccharides (EPS), and antifungal compounds. A trained sensory panel was used to perform descriptive analysis of the bread samples. The object of this paper is to use functional sourdoughs, containing Lactobacillus amylovorus DSM 19280 and Weisella cibaria MG1 to compensate for the quality problems that occur when salt is reduced in yeasted bread. The application of functional sourdoughs containing exopolysaccharides and/or antifungal substances in salt reduced breads significantly improved the quality. The application of functional sourdoughs allows the reduction of salt to a level of 0.3%.

The influence of anthropogenic edge effects on primate populations and their habitat in a fragmented rainforest in Costa Rica.

When a forest is fragmented, this increases the amount of forest edge relative to the interior. Edge effects can lead to loss of animal and plant species and decreased plant biomass near forest edges. We examined the influence of an anthropogenic forest edge comprising cattle pasture, coconut plantations, and human settlement on the mantled howler (Alouatta palliata), white-faced capuchin (Cebus capucinus), Central American spider monkey (Ateles geoffroyi), and plant populations at La Suerte Biological Research Station (LSBRS), Costa Rica. We predicted that there would be lower monkey encounter rate, mean tree species richness, and diameter at breast height (DBH) in forest edge versus interior, and that monkeys would show species-specific responses to edge based on diet, body size, and canopy height preferences. Specifically, we predicted that howler monkeys would show positive or neutral edge effects due to their flexible folivorous diet, large body size, and preference for high canopy, capuchins would show positive edge effects due to their diverse diet, small body size, and preference for low to middle canopy, and spider monkeys would show negative edge effects due their reliance on ripe fruit, large body size, and preference for high upper canopy. We conducted population and vegetation surveys along edge and interior transects at LSBRS. Contrary to predictions, total monkey encounter rate did not vary between the forest edge and forest interior. Furthermore, all three species showed neutral edge effects with no significant differences in encounter rate between forest edge and interior. Interior transects had significantly higher mean tree species richness than edge transects, and interior trees had greater DBH than edge trees, although this difference was not significant. These results suggest that forest edges negatively impact plant populations at La Suerte but that the monkeys are able to withstand these differences in vegetation.

Patient-reported outcomes of prostate high-dose-rate brachytherapy boost comparing an outpatient and inpatient protocol: a two-center chronologic cohort study.

PURPOSE: To determine patients' self-reported experiences of outpatient high-dose-rate prostate brachytherapy boost, and compare with previous cohort treated as inpatients. METHODS AND MATERIALS: Using the Prostate Brachytherapy Questionnaire, we previously examined patients' subjective experience of the brachytherapy procedure when it involved one implant and hospitalization with the template in situ for 2 days (Group 1). The protocol was subsequently changed to two implants, 2 weeks apart as outpatients. Fifty-eight patients treated with the new protocol (Group 2) completed the same questionnaire. We compared the self-reported experiences between Groups 1 and 2 and also between the first and second implant for those in Group 2. Our hypothesis was that the worst rated issues in Group 1 might be reduced with the new approach. RESULTS: Group 2 patients were less troubled overall by the procedure (mean scores 2.3 vs. 3.2, p=0.0293). Specifically, they were less troubled by "discomfort" (2.8 vs. 3.8, p=0.0254); "being stuck in bed" (1.7 vs. 4.2 p<0.0001); "feeling helpless" (1.3 vs. 2.8, p=0.0009); "fear of opening my bowels" (2.1 vs. 3.3, p=0.0055); and "fear of coping with the implant" (1.3 vs. 2.5, p=0.0004). There was no significant increase in "thought of implant" or "fear of implant" before the second implant. However, more patients rated worse than expected "fear of passing urine" during the second implant. CONCLUSIONS: Patients rated high-dose-rate brachytherapy less troublesome when delivered as outpatient with two implants, 2 weeks apart than as inpatient over 3 days, despite the additional invasive procedure and anesthesia.

Developmental changes in neural activity to familiar words and gestures.

Infants younger than 20 months of age interpret both words and symbolic gestures as object names. Later in development words and gestures take on divergent communicative functions. Here, we examined patterns of brain activity to words and gestures in typically developing infants at 18 and 26 months of age. Event-related potentials (ERPs) were recorded during a match/mismatch task. At 18 months, an N400 mismatch effect was observed for pictures preceded by both words and gestures. At 26 months the N400 effect was limited to words. The results provide the first neurobiological evidence showing developmental changes in semantic processing of gestures.

Starter strain related effects on the biochemical and sensory properties of Cheddar cheese.

A detailed investigation was undertaken to determine the effects of four single starter strains, Lactococcus lactis subsp. lactis 303, Lc. lactis subsp. cremoris HP, Lc. lactis subsp. cremoris AM2, and Lactobacillus helveticus DPC4571 on the proteolytic, lipolytic and sensory characteristics of Cheddar cheese. Cheeses produced using the highly autolytic starters 4571 and AM2 positively impacted on flavour development, whereas cheeses produced from the poorly autolytic starters 303 and HP developed off-flavours. Starter selection impacted significantly on the proteolytic and sensory characteristics of the resulting Cheddar cheeses. It appeared that the autolytic and/or lipolytic properties of starter strains also influenced lipolysis, however lipolysis appeared to be limited due to a possible lack of availability or access to suitable milk fat substrates over ripening. The impact of lipolysis on the sensory characteristics of Cheddar cheese was unclear, possibly due to minimal differences in the extent of lipolysis between the cheeses at the end of ripening. As anticipated seasonal milk supply influenced both proteolysis and lipolysis in Cheddar cheese. The contribution of non-starter lactic acid bacteria towards proteolysis and lipolysis over the first 8 months of Cheddar cheese ripening was negligible.

Modelling of sensory and instrumental texture parameters in processed cheese by near infrared reflectance spectroscopy.

This study investigated the application of near infrared (NIR) reflectance spectroscopy to the measurement of texture (sensory and instrumental) in experimental processed cheese samples. Spectra (750 to 2498 nm) of cheeses were recorded after 2 and 4 weeks storage at 4 degrees C. Trained assessors evaluated 9 sensory properties, a texture profile analyser (TPA) was used to record 5 instrumental parameters and cheese 'meltability' was measured by computer vision. Predictive models for sensory and instrumental texture parameters were developed using partial least squares regression on raw or pre-treated spectral data. Sensory attributes and instrumental texture measurements were modelled with sufficient accuracy to recommend the use of NIR reflectance spectroscopy for routine quality assessment of processed cheese.