Improving Parental Knowledge of Medically Complex Neonates Through Scheduled Conferences.

Reports of parental dissatisfaction from incomplete or inconsistent information led to a quality improvement (QI) project to establish planned family conferences at 10 days and 1 month of life, for 50% of the medically complex neonates admitted to a neonatal intensive care unit within 1 year. A QI team instituted a system in which social workers scheduled family conferences and a neonatologist conducted the conferences. Team members tracked measures using statistical process control charts over 21 months. The QI team scheduled conferences for greater than 80% of eligible families, with an 86% completion rate on days 10 and 30, exceeding project goals of 50%. The majority of the families surveyed were satisfied with the meetings. Only 2% of parents surveyed found meetings burdensome, compared to 14% of physicians. A sustainable method for scheduling meetings and preparation for conferences, including the use of a template led to success.

Social Media as a Source of Medical Information for Parents of Premature Infants: A Content Analysis of Prematurity-Related Facebook Groups.

OBJECTIVE: Parents are increasingly turning to social media for medical recommendations. Our objective was to systematically examine posts on Facebook for parents of infants hospitalized in the neonatal intensive care unit (NICU) to analyze how advice on medical topics was requested and given, and whether this advice was potentially medically inappropriate. STUDY DESIGN: One hundred Facebook groups were screened for study eligibility. In each group, up to 400 posts on medical topics were evaluated. The first 10 comments of each post were classified based on content and presence of medical advice. Appropriateness of advice was evaluated by a neonatologist. RESULTS: Of 28 groups meeting study criteria, 10 permitted access for data collection. We identified 729 posts requesting medical advice of which 29% referenced the NICU period. Posts on diagnosis and development (30 and 32% of posts, respectively) were the most common topics, and most likely to receive advice (78 and 76% of posts on these topics, respectively). We identified 238 comments containing potentially inappropriate medical advice and 30 comments recommending going against medical advice. CONCLUSION: Parents are utilizing Facebook as a source of support and medical information. Parents are most likely to give development-related advice from their own parenting experiences. The high percentage of posts requesting advice about diagnosis and development in the post-NICU stage suggests parents seek increased anticipatory guidance. KEY POINTS: · Parents of premature infants use Facebook to obtain medical advice.. · Advice was at times potentially medically inappropriate.. · Much advice focused on the post-NICU period..

Implementation of point of care ultrasound to assess umbilical venous catheter position in the neonatal intensive care unit.

Point of care ultrasound (POCUS) is an emerging method for assessing umbilical venous catheter (UVC) position. We implemented a training module for neonatal providers geared toward POCUS proficiency in assessing UVC position in our neonatal intensive care unit. Over 14 months, the percentage of providers qualified to use POCUS for UVC placement increased from 0 to 33%. The median time to achieve proficiency was 5 months (interquartile range: 3-14 months). Additionally, we discovered that a minimum of two views were required to correctly assess catheter tip location. The two views in which it was easiest to correctly identify the catheter tip were the subcostal and parasternal short view using the cardiac ultrasound windows, and the phased array ultrasound probe.

Assessment of Seroprevalence of SARS-CoV-2 and Risk Factors Associated With COVID-19 Infection Among Outpatients in Virginia.

Importance: Data from seroepidemiologic surveys measuring severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exposure in diverse communities and ascertaining risk factors associated with infection are important to guide future prevention strategies. Objective: To assess the prevalence of previous SARS-CoV-2 infection across Virginia and the risk factors associated with infection after the first wave of coronavirus disease 2019 (COVID-19) infections in the US. Design, Setting, and Participants: In this statewide cross-sectional surveillance study, 4675 adult outpatients presenting for health care not associated with COVID-19 in Virginia between June 1 and August 14, 2020, were recruited to participate in a questionnaire and receive venipuncture to assess SARS-CoV-2 serology. Eligibility was stratified to meet age, race, and ethnicity quotas that matched regional demographic profiles. Main Outcomes and Measures: The main outcome was SARS-CoV-2 seropositivity, as measured by the Abbott SARS-CoV-2 immunoglobulin G assay. Results: Among 4675 adult outpatients (mean [SD] age, 48.8 [16.9] years; 3119 women [66.7%]; 3098 White [66.3%] and 4279 non-Hispanic [91.5%] individuals) presenting for non-COVID-19-associated health care across Virginia, the weighted seroprevalence was 2.4% (95% CI, 1.8%-3.1%) and ranged from 0% to 20% by zip code. Seroprevalence was notably higher among participants who were Hispanic (10.2%; 95% CI, 6.1%-14.3%), residing in the northern region (4.4%; 95% CI, 2.8%-6.1%), aged 40 to 49 years (4.4%; 95% CI, 1.8%-7.1%), and uninsured (5.9%; 95% CI, 1.5%-10.3%). Higher seroprevalence was associated with Hispanic ethnicity (adjusted odds ratio [aOR], 3.56; 95% CI, 1.76-7.21), residence in a multifamily unit (aOR, 2.55; 95% CI, 1.25-5.22), and contact with an individual with confirmed COVID-19 infection (aOR, 4.33; 95% CI, 1.77-10.58). The sensitivity of serology results was 94% (95% CI, 70%-100%) among those who reported receiving a previous polymerase chain reaction test for COVID-19 infection. Among 101 participants with seropositive results, 67 individuals (66.3%) were estimated to have asymptomatic infection. These data suggested a total estimated COVID-19 burden that was 2.8-fold higher than that ascertained by PCR-positive case counts. Conclusions and Relevance: This large statewide serologic study estimated that 2.4% of adults in Virginia had exposure to SARS-CoV-2, which was 2.8-fold higher than confirmed case counts. Hispanic ethnicity, residence in a multifamily unit, and contact with an individual with confirmed COVID-19 infection were significant risk factors associated with exposure. Most infections were asymptomatic. As of August 2020, the population in Virginia remained largely immunologically naive to the virus.

Fingertip ultrasound evaluation of umbilical catheter position in the neonatal intensive care unit compared to conventional ultrasound radiography: a preliminary investigation.

OBJECTIVE: The purpose of the study is to compare conventional linear and fingertip ultrasound transducers, for the evaluation of umbilical catheters, with radiography. Fingertip ultrasound transducers have the potential to simplify sonographic examination due to their small size and ability to fit on a finger. STUDY DESIGN: A prospective, IRB approved comparative study was performed. Linear and fingertip sonographic images were obtained around the same time as a radiograph in neonates with umbilical catheters by two board certified pediatric radiologists and a radiology resident. The positions of catheters were then compared across all three modalities. RESULT: A total of 41 catheters were evaluated, which included 14 arterial and 27 venous catheters. Two venous catheters were not identified by the linear transducer and one arterial catheter tip was not identified by the fingertip transducer. CONCLUSION: A fingertip ultrasound probe can be used to evaluate umbilical catheter positioning for potentially faster sonographic examination and decrease the need for repeated radiation.

Parity and the Association Between Maternal Sociodemographic Characteristics and Breastfeeding.

Objective: Although clinicians recognize the importance of breastfeeding for child health, breastfeeding initiation can be limited by maternal characteristics such as race/ethnicity, age at first birth, and educational attainment. We hypothesized that the strong influence of prior infant feeding experiences on multiparous women's decision to initiate and continue breastfeeding may mean that these maternal characteristics influence breastfeeding more strongly for primiparas than multiparas. Materials and Methods: Using Pregnancy Risk Assessment and Monitoring System (PRAMS) (Phase 8) survey data from 2016 to 2017, we analyzed mothers' responses to the supplemental question about parity, "Before you got pregnant with your new baby, did you ever have any other babies who were born alive?" Study variables were summarized by using weighted means and proportions and compared according to parity by using Wald tests. In the overall cohort, we evaluated the interaction between parity and each covariate by using logistic regression. Results: In our sample (N = 20,694), 40% of respondents were first-time mothers, and 88% had initiated breastfeeding. Primiparas were more likely to breastfeed than multiparas (92% versus 86%; p < 0.001), but they had shorter mean breastfeeding duration. On unadjusted analysis, four covariates were more strongly associated with breastfeeding initiation among primiparas than multiparas (maternal age, educational attainment, receiving breastfeeding information from a nurse or other medical professional, and receiving breastfeeding information from family or friends). Conclusions: Breastfeeding initiation is impacted more strongly by maternal characteristics for primiparas than multiparas.

Prematurity and breastfeeding initiation: A sibling analysis.

AIM: Studies suggest breastfeeding initiation is less common for premature infants. This association may be confounded by socio-economic characteristics that correlate with the risk of premature birth. We compared premature and term-born children to determine whether prematurity independently predicted likelihood of breastfeeding continuation and duration. METHODS: Data were obtained from women ages 15-44 years reporting at least two live pregnancies on the 2011-2017 National Survey of Family Growth. Participants completed a pregnancy and breastfeeding history. Breastfeeding initiation was defined as breastfeeding for at least 1 week, and duration of exclusive breastfeeding was recorded in months. Sibling fixed effects regression models were used to evaluate the impact of prematurity. RESULTS: Among families with some children who were breastfed and others who were not (n = 2848 children), preterm birth was not associated with breastfeeding initiation (odds ratio = 1.11; P = .468). Among children who were ever breastfed, exclusive breastfeeding lasted 5% fewer months among children born preterm, compared with term-born siblings (incidence rate ratio = 0.95; P = .060). CONCLUSION: Using sibling-group analysis to control for confounding, we found no independent association between prematurity and likelihood of breastfeeding initiation. This suggests interventions supporting breastfeeding for premature infants may need to address external barriers to breastfeeding not specifically preterm birth.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

BACKGROUND: Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. OBJECTIVE: To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-of-function mutations. METHODS: Through the National Institutes of Health and collaborating centres, ∼400 individuals with HPE spectrum disorders, endocrine disorders or craniofacial anomalies were screened for GLI2 mutations. Results were combined with all published cases. We compared the clinical and molecular features of individuals with truncating mutations to individuals with variants of unknown significance (defined as not resulting in protein truncation, reported in normal controls and/or deemed unlikely to be pathogenic by functional prediction software). RESULTS: 112 individuals with variants in GLI2 were identified, with 43 having truncating mutations. Individuals with truncating mutations were more likely to have both pituitary anomalies and polydactyly versus those with variants of unknown significance (p<0.0001 by Fisher's exact test); only 1 of 43 had frank HPE. These individuals were more likely to have recognised penetrance (polydactyly or pituitary anomalies or both) than those without truncating mutations (p=0.0036 by Fisher's exact test). A common facial phenotype was seen in individuals (with midface hypoplasia, cleft lip/palate and hypotelorism) with truncating mutations. CONCLUSIONS: Individuals with truncating mutations in GLI2 typically present with pituitary anomalies, polydactyly and subtle facial features rather than HPE. This will be helpful in screening populations for GLI2 mutations and for counselling affected patients. TRIAL REGISTRATION: 98-HG-0249/04-HG-0093.

Clinical genomic database.

Technological advances have greatly increased the availability of human genomic sequencing. However, the capacity to analyze genomic data in a clinically meaningful way lags behind the ability to generate such data. To help address this obstacle, we reviewed all conditions with genetic causes and constructed the Clinical Genomic Database (CGD) (http://research.nhgri.nih.gov/CGD/), a searchable, freely Web-accessible database of conditions based on the clinical utility of genetic diagnosis and the availability of specific medical interventions. The CGD currently includes a total of 2,616 genes organized clinically by affected organ systems and interventions (including preventive measures, disease surveillance, and medical or surgical interventions) that could be reasonably warranted by the identification of pathogenic mutations. To aid independent analysis and optimize new data incorporation, the CGD also includes all genetic conditions for which genetic knowledge may affect the selection of supportive care, informed medical decision-making, prognostic considerations, reproductive decisions, and allow avoidance of unnecessary testing, but for which specific interventions are not otherwise currently available. For each entry, the CGD includes the gene symbol, conditions, allelic conditions, clinical categorization (for both manifestations and interventions), mode of inheritance, affected age group, description of interventions/rationale, links to other complementary databases, including databases of variants and presumed pathogenic mutations, and links to PubMed references (>20,000). The CGD will be regularly maintained and updated to keep pace with scientific discovery. Further content-based expert opinions are actively solicited. Eventually, the CGD may assist the rapid curation of individual genomes as part of active medical care.

Clinical geneticists' views of VACTERL/VATER association.

VACTERL association (sometimes termed "VATER association" depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Although the clinical criteria for VACTERL association may appear to be straightforward, there is wide variability in the way clinical geneticists define the disorder and the genetic testing strategy they use when confronted with an affected patient. In order to describe this variability and determine the most commonly used definitions and testing modalities, we present the results of survey responses by 121 clinical geneticists. We discuss the results of the survey responses, provide a literature review and commentary from a group of physicians who are currently involved in clinical and laboratory-based research on VACTERL association, and offer an algorithm for genetic testing in patients with this association.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

BACKGROUND: Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences. OBJECTIVE: To characterise genetic and clinical findings in individuals with SHH mutations. METHODS: Through the National Institutes of Health and collaborating centres, DNA from approximately 2000 individuals with HPE spectrum disorders were analysed for SHH variations. Clinical details were examined and combined with published cases. RESULTS: This study describes 396 individuals, representing 157 unrelated kindreds, with SHH mutations; 141 (36%) have not been previously reported. SHH mutations more commonly resulted in non-HPE (64%) than frank HPE (36%), and non-HPE was significantly more common in patients with SHH than in those with mutations in the other common HPE related genes (p<0.0001 compared to ZIC2 or SIX3). Individuals with truncating mutations were significantly more likely to have frank HPE than those with non-truncating mutations (49% vs 35%, respectively; p=0.012). While mutations were significantly more common in the N-terminus than in the C-terminus (including accounting for the relative size of the coding regions, p=0.00010), no specific genotype-phenotype correlations could be established regarding mutation location. CONCLUSIONS: SHH mutations overall result in milder disease than mutations in other common HPE related genes. HPE is more frequent in individuals with truncating mutations, but clinical predictions at the individual level remain elusive.

Disparities exist in the availability of outpatient malaria treatment in Maryland, USA.

BACKGROUND: Prior review of pediatric malaria cases in the Washington, DC area raised concern that there may be systematic barriers to the timely procurement of antimalarial medications for those patients being treated for malaria as outpatients. We hypothesized that the local availability of antimalarial medications was not consistent across communities of differing socioeconomic status. METHODS: We administered a blinded telephone questionnaire to pharmacists in the Maryland suburbs of Washington, DC and assessed the in-stock availability of antimalarial medication. Pharmacies were stratified into categories of population risk, disease incidence, and income. RESULTS: Pharmacies in high-income ZIP codes were more likely to stock first-line therapy medications (93%, p = 0.03) than pharmacies in moderate-income, low-incidence, low-risk ZIP codes (50%). Moderate-income ZIP codes with high-malaria incidence and a high-risk population (67%, p = 0.35) were no more likely to stock first-line antimalarial medications than pharmacies in moderate-income, low-incidence, low-risk areas (50%). In all, only four (9%) pharmacies stocked quinine. Many pharmacists stated the reason for this discrepancy was that they believed the Food and Drug Administration (FDA) had "pulled quinine off the market." CONCLUSIONS: In the United States, disparities exist in the availability of outpatient-antimalarial medications. We recommend that a complete outpatient treatment course is dispensed, or the availability of the medication at the pharmacy that the patient will use is verified prior to departure from the clinic or emergency department. Pharmacists and physicians should be aware that the FDA restrictions on the use of quinine sulfate do not apply to its use for the treatment of malaria.