Cohort profile: the National Congenital Anomaly Registration Dataset in England.

PURPOSE: The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), part of National Disease Registration Service in National Health Service England, quality assures, curates and analyses individual data on the pregnancies, fetuses, babies, children and adults with congenital anomalies and rare diseases across England. The congenital anomaly (CA) register provides a resource for patients and their families, clinicians, researchers and public health professionals in furthering the understanding of CAs. PARTICIPANTS: NCARDRS registers CAs occurring in babies born alive and stillborn, fetal losses and terminations in England. NCARDRS collects data from secondary and tertiary healthcare providers, private providers and laboratories covering fetal medicine, maternity or paediatric services. Data describe the pregnancy, mother, baby and anomaly. Established in 2015, NCARDRS expanded CA registration coverage from 22% of total births in England in 2015 to national coverage, which was achieved in 2018. Prior to 2015, data collection was performed independently by regional registers in England; these data are also held by NCARDRS. FINDINGS TO DATE: NCARDRS registers approximately 21 000 babies with CAs per year with surveillance covering around 600 000 total births, the largest birth coverage for a CA register globally. Data on prevalence, risk factors and survival for children with CAs are available. Data have been used in several peer-reviewed publications. Birth prevalence statistics, including public health indicators such as the association with maternal age, infant and perinatal mortality, are published annually. NCARDRS supports clinical audit for screening programmes and service evaluation. FUTURE PLANS: NCARDRS provides a valuable resource for the understanding of the epidemiology, surveillance, prevention and treatment of CAs. Currently, approximately 21 000 new registrations of babies or fetuses with suspected or confirmed CAs are added each year. Identifiers are collected, enabling linkage to routinely collected healthcare and population statistics, further enhancing the value of the data.

Detection rates of a national fetal anomaly screening programme: A national cohort study.

OBJECTIVE: To measure condition-specific detection rates for 14 physical conditions screened for by the NHS fetal anomaly screening programme (FASP) fetal anomaly (FA) ultrasound scan. DESIGN: Retrospective audit of 12 694 diagnoses across a 3-year national cohort. SETTING: All English NHS and crown-dependency hospital trusts providing maternity services. POPULATION: Pregnancies booked for maternity services with an expected date of delivery between 1 April 2017 and 31 March 2020 and at least one diagnosis of a condition screened for by FASP. METHODS: Active multi-source ascertainment, linkage, audit and validation of clinical information to identify the subset of diagnoses meeting the condition-specific positivity threshold for the FA scan. MAIN OUTCOME MEASURE: The accuracy of the FA scan compared with diagnostic reference standards. RESULTS: FA scan detection rates were: anencephaly 96.3% (95% confidence interval [CI] 81.7-99.3%), atrioventricular septal defect: 69.2% (95% CI 65.8-72.4%), bilateral renal agenesis: 98.7% (95% CI 95.4-99.6%), cleft lip: 89.5% (95% CI 87.8-90.9%), congenital diaphragmatic hernia: 60.8% (95% CI 56.5-65%), Edwards syndrome: 73.8% (95% CI 67.5-79.3%), exomphalos: 59.4% (95% CI 49.4-68.7%), gastroschisis: 88.6% (95% CI 79-94.1%), hypoplastic left heart syndrome: 92.7% (95% CI 90-94.8%), lethal skeletal dysplasia: 93.2% (95% CI 88.6-96%), Patau syndrome: 82.3% (95% CI 72.4-89.1%), spina bifida: 93.8% (95% CI 91.8-95.3%), tetralogy of Fallot: 75.4% (95% CI 72.1-78.4%) and transposition of the great arteries: 84.9% (95% CI 81.7-87.5%). CONCLUSIONS: The performance of the FA scan is above the expectations set in 2010 for most conditions. For the remaining conditions, the majority of fetuses and babies affected are detected before the FA scan.

Pediatric respiratory distress: California out-of-hospital protocols and evidence-based recommendations.

OBJECTIVES: Prehospital protocols vary across local emergency medical service (EMS) agencies in California. We sought to develop evidence-based recommendations for the out-of-hospital evaluation and treatment of pediatric respiratory distress, and we evaluated the protocols for pediatric respiratory distress used by the 33 California local EMS agencies. METHODS: Evidence-based recommendations were developed through an extensive literature review of the current evidence regarding out-of-hospital treatment of pediatric patients with respiratory distress. The authors compared the pediatric respiratory distress protocols of each of the 33 California local EMS agencies with the evidence-based recommendations. Our focus was on the treatment of 3 main pediatric respiratory complaints by presentation: stridor (croup), wheezing < 24 months (bronchiolitis), and wheezing > 24 months (asthma). RESULTS: Protocols across the 33 California local EMS agencies varied widely. Stridor (croup) had the highest protocol variability of the 3 presentations we evaluated, with no treatment having uniform use among all agencies. Only 3 (9.1%) of the local EMS agencies differentiated wheezing in children < 24 months of age, referencing this as possible bronchiolitis. All local EMS agencies included albuterol and epinephrine (intravenous/intramuscular) in their pediatric wheezing (asthma) treatment protocols. The least common treatments for wheezing (asthma) included nebulized epinephrine (3/33) and magnesium (2/33). No agencies included steroids in their treatment protocols (0/33). CONCLUSION: Protocols for pediatric respiratory distress vary widely across the state of California, especially among those for stridor (croup) and wheezing in < 24 months (bronchiolitis). The evidence-based recommendations that we present for the prehospital treatment of these conditions may be useful for EMS medical directors tasked with creating and revising these protocols.

Chronic partial bladder outlet obstruction does not impair erectile function in male rats.

OBJECTIVE: To evaluate, in a well-controlled study, the effect of surgically induced partial bladder outlet obstruction (PBOO) on male erectile function in a rat model. MATERIALS AND METHODS: PBOO was created in 17 adult male Sprague-Dawley rats by partial ligation of the proximal urethra. Sham-operated and PBOO rats were evaluated for urodynamic and erectile function at 4-8 weeks after surgery. Erectile responses to electrical field stimulation (EFS) to the major pelvic ganglion, and to erectogenic agents (1,1-diethyl-2-hydroxy-2-nitroso-hydrazine, DEA-NO, and Y-27632) were evaluated and the area under the curve (AUC, a product of the intracavernous pressure and duration) was used to denote the erectile response. RESULTS: Experimental PBOO in rats significantly increased the mean (sem) bladder weight, to 256 (25) mg in PBOO rats vs 123 (24) mg in sham controls, and the voiding frequency to 1.01 (0.1) voids/min vs 0.72 (0.14) voids/min in sham controls (P < 0.05). There was no significant difference between the erectile response to EFS, with a mean AUC in sham control rats at 1.5, 3.0 and 4.5 V of 2603 (372), 3200 (332) and 3357 (166), respectively, vs 2273 (183), 3794 (211) and 4177 (306) in PBOO rats (P > 0.05); or to the erectogenic agents, the AUC for DEA-NO being 9000 (975) in PBOO rats vs 13 201 (2756) in sham controls, and the AUC for Y-27 632 being 44 915 (2462) and 45 907 (7408), respectively (P > 0.05). There was greater immunoreactivity to RhoA in bladder and penile tissues of PBOO than control rats. CONCLUSION: PBOO does not affect erectile function in rats. Additional mechanisms or pathways might be involved in lower urinary tract symptom-related erectile dysfunction in humans.