An exploratory study of perceptions and utilization of genetic information in the intended parent experience of oocyte donor selection.

Purpose: Utilization of oocyte donation has become an increasingly common practice in assisted reproductive technology (ART). Since the introduction of larger carrier screening (CS) panels and extended family medical histories (EFMH), studies have not examined how this information factors into the oocyte donor selection process. This exploratory, qualitative study provides further insight into what role, if any, donors' available genetic information (e.

Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.

Background: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.

Aims: Here, we reviewed the current literature on prenatal manifestations of CDPX1, and additionally introduce previously unpublished cases.

Validation of the Emergency Department Work Index in a Pediatric Freestanding Community Emergency Department.

Objectives: The Emergency Department Work Index (EDWIN) is a validated overcrowding score shown to correlate well with staff assessment of adult emergency department (ED) overcrowding and the potential need for diversion. It derives from the number of staffed ED beds, attending physicians on duty, patients within each triage category, and admitted patients. To date, no study has validated EDWIN in a pediatric community ED setting.

Large Clusters of Invasive emm49 Group A Streptococcus Identified Within Arizona Health Care Facilities Through Statewide Genomic Surveillance System, 2019-2021.

A statewide genomic surveillance system for invasive Group A Streptococcus was implemented in Arizona in June 2019, resulting in 1046 isolates being submitted for genomic analysis to characterize emm types and identify transmission clusters. Eleven of the 32 identified distinct emm types comprised >80% of samples, with 29.7% of all isolates being typed as emm49 (and its genetic derivative emm151).

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Axenfeld-Rieger Syndrome (ARS) type 1 is a rare autosomal dominant condition characterized by anterior chamber anomalies, umbilical defects, dental hypoplasia, and craniofacial anomalies, with Meckel's diverticulum in some individuals. Here, we describe a clinically ascertained female of childbearing age with ARS for whom clinical targeted sequencing and deletion/duplication analysis followed by clinical exome and genome sequencing resulted in no pathogenic variants or variants of unknown significance in PITX2 or FOXC1. Advanced bioinformatic analysis of the genome data identified a complex, balanced rearrangement disrupting PITX2.

The Deterioration Risk Index: Developing and Piloting a Machine Learning Algorithm to Reduce Pediatric Inpatient Deterioration.

Objectives: Develop and deploy a disease cohort-based machine learning algorithm for timely identification of hospitalized pediatric patients at risk for clinical deterioration that outperforms our existing situational awareness program.

Design: Retrospective cohort study.

Setting: Nationwide Children's Hospital, a freestanding, quaternary-care, academic children's hospital in Columbus, OH.

Notes at your fingertips: Open note considerations regarding pediatric and adolescent care.

The clinician's note serves an increasing number of audiences, the most recent addition being the patient and, in the case of pediatrics, the parent/guardian. The early work of the OpenNotes initiative followed by the recently enacted 21 Century Cures Act Information Blocking Rule has mandated easy and timely electronic access to notes involving their clinical care. While many benefits have already been described and most drawbacks unrealized, the care of pediatric and adolescent patients brings unique challenges to enable this functionality while preserving patient, parent, and family confidentiality.

Comparison of live birth rates after IVF-embryo transfer with and without preimplantation genetic testing for aneuploidies.

Research Question: Does the use of preimplantation genetic testing for aneuploidies (PGT-A) result in higher live birth rates when compared with both fresh and frozen embryo transfers (FET) not utilizing PGT-A?

Design: Retrospective cohort study at a single tertiary centre using inverse probability of treatment weighting (IPTW) to adjust for differences in baseline characteristics between groups.

Results: A total of 107 FET using PGT-A from 74 patients, along with 321 fresh and 286 FET not using PGT-A from 381 patients met the inclusion criteria for this study. In the IPTW-adjusted analysis of transfer-level data, PGT-A transfers resulted in a significantly higher live birth rate when compared with both non-PGT-A fresh (49.

Examining career shadowing in genetic counseling: Perspectives of shadowees, program directors, and genetic counselors.

Career shadowing can be a valuable opportunity for individuals to experience the daily activities of a working professional. However, there is no published research regarding the impact of shadowing for individuals hoping to pursue a career as a genetic counselor (GC) (termed 'shadowees'). Additionally, little is known about the impact of shadowing on practicing GCs, nor the value of shadowing in the application and admission process for genetic counseling graduate programs.

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.

Introduction: Congenital disorders of glycosylation (CDG) are inborn errors of glycan metabolism with high clinical variability. Only a few antenatal cases have been described with CDG. Due to a lack of reliable biomarker, prenatal CDG diagnostics relies primarily on molecular studies.

Impact of integrated translational research on clinical exome sequencing.

Purpose: Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a conclusive diagnosis. To provide comprehensive genomic testing to patients with undiagnosed disease, we established an Individualized Medicine Clinic, which offered clinical exome testing and included a Translational Omics Program (TOP) that provided variant curation, research activities, or research exome sequencing.

The Vitals Risk Index-Retrospective Performance Analysis of an Automated and Objective Pediatric Early Warning System.

Introduction: Pediatric in-hospital cardiac arrests and emergent transfers to the pediatric intensive care unit (ICU) represent a serious patient safety concern with associated increased morbidity and mortality. Some institutions have turned to the electronic health record and predictive analytics in search of earlier and more accurate detection of patients at risk for decompensation.

Methods: Objective electronic health record data from 2011 to 2017 was utilized to develop an automated early warning system score aimed at identifying hospitalized children at risk of clinical deterioration.

Counseling Close to Home: Genetic Counselors' Experiences with their own Family Members.

Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives.

Development and implementation of an electronic health record generated surgical handoff and rounding tool.

Electronic health records (EHR) have been adopted across the nation at tremendous effort and expense. The purpose of this study was to assess improvements in accuracy, efficiency, and patient safety for a high-volume pediatric surgical service with adoption of an EHR-generated handoff and rounding list. The quality and quantity of errors were compared pre- and post-EHR-based list implementation.

Dominant effects of the diet on the microbiome and the local and systemic immune response in mice.

Outside the nutrition community the effects of diet on immune-mediated diseases and experimental outcomes have not been appreciated. Investigators that study immune-mediated diseases and/or the microbiome have overlooked the potential of diet to impact disease phenotype. We aimed to determine the effects of diet on the bacterial microbiota and immune-mediated diseases.

Barriers to implementing infection prevention and control guidelines during crises: experiences of health care professionals.

Background: Communicable disease crises can endanger the health care system and often require special guidelines. Understanding reasons for nonadherence to crisis guidelines is needed to improve crisis management. We identified and measured barriers and conditions for optimal adherence as perceived by 4 categories of health care professionals.

Determinants for HPV vaccine uptake in the Netherlands: A multilevel study.

In March 2009, a HPV catch-up vaccination campaign was implemented in the Netherlands for girls born between 1993 and 1996. We performed a multilevel study to investigate determinants for HPV vaccination uptake. National coverage for the first dose was 49.