Neonates with genetic disorders or congenital anomalies (CA) contribute considerably to morbidity and mortality in neonatal intensive care units (NICUs). The objective of this study is to study the prevalence of genetic disorders in an academic level IV NICU. We retrospective collected and analyzed both clinical and genetic data of all 1444 infants admitted to the NICU of the Radboudumc (October 2013 to October 2015). Data were collected until infants reached at least 2 years of age. A total of 13% (194/1444) of the patients were genetically tested, and 32% (461/1444) had a CA. A total of 37% (72/194) had a laboratory-confirmed genetic diagnosis. In 53%, the diagnosis was made post-neonatally (median age = 209 days) using assays including exome sequencing. Exactly 63% (291/461) of the patients with CA, however, never received genetic testing, despite being clinically similar those who did.Conclusions: Genetic disorders were suspected in 13% of the cohort, but only confirmed in 5%. Most received their genetic diagnosis in the post-neonatal period. Extrapolation of the diagnostic yield suggests that up to 6% of our cohort may have remained genetically undiagnosed. Our data show the need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management. What is Known:• Genetic disorders are suspected in many neonates but only genetically confirmed in a minority.• The presence of a genetic disorder can be easily missed and will often lead to a diagnostic odyssey requiring extensive evaluations, both clinically and genetically. What is New:• Different aspects of the clinical features and uptake of genetic test in a NICU cohort.• The need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management.

The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to impact clinical decision-making. Unbiased prospective studies to quantify the impact of rES over routine genetic testing are, however, scarce. We performed a clinical utility study to compare rES to conventional genetic diagnostic workup for critically ill neonates with suspected genetic disorders. In a multicenter prospective parallel cohort study involving five Dutch NICUs, we performed rES in parallel to routine genetic testing for 60 neonates with a suspected genetic disorder and monitored diagnostic yield and the time to diagnosis. To assess the economic impact of rES, healthcare resource use was collected for all neonates. rES detected more conclusive genetic diagnoses than routine genetic testing (20% vs. 10%, respectively), in a significantly shorter time to diagnosis (15 days (95% CI 10–20) vs. 59 days (95% CI 23–98, p < 0.001)). Moreover, rES reduced genetic diagnostic costs by 1.5% (€85 per neonate).Conclusion: Our findings demonstrate the clinical utility of rES for critically ill neonates based on increased diagnostic yield, shorter time to diagnosis, and net healthcare savings. Our observations warrant the widespread implementation of rES as first-tier genetic test in critically ill neonates with disorders of suspected genetic origin. What is Known:• Rapid exome sequencing (rES) enables diagnosing rare genetic disorders in a fast and reliable manner, but retrospective studies with neonates admitted to the neonatal intensive care unit (NICU) indicated that genetic disorders are likely underdiagnosed as rES is not routinely used.• Scenario modeling for implementation of rES for neonates with presumed genetic disorders indicated an expected increase in costs associated with genetic testing. What is New:• This unique prospective national clinical utility study of rES in a NICU setting shows that rES obtained more and faster diagnoses than conventional genetic tests.• Implementation of rES as replacement for all other genetic tests does not increase healthcare costs but in fact leads to a reduction in healthcare costs.

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Abbreviations: BMI, body mass index; BP, blood pressure; IBP, invasive blood pressure; MAP, mean arterial pressure; NIBP, non-invasive blood pressure; PICU, pediatric intensive care unit; PRES, posterior reversible encephalopathy syndrome; R, correlation coefficients; SD, standard deviation; SEM, standard error of the mean. AbstractObjective: Blood pressure (BP) monitoring in children immediately after kidney transplantation is ideally performed with an arterial line. Accurate measurement of BP is necessary for optimal management. However, during the first days postoperative, the arterial line is removed and BP measurement is switched to a non-invasive device. The aim of this study was to determine the accuracy and reliability of the automated oscillometric device compared to invasive arterial BP (IBP) monitoring in patients after renal transplantation in pediatric intensive care unit (PICU). Method:We analyzed all simultaneously measured BPs in children with a kidney transplant in the Amalia Children'. BP measurements were performed according to the hospital protocol. Agreement between invasive and non-invasive methods was assessed using Bland-Altman plots.Results: A total of 29 patients were included in this retrospective study. The majority of children were male (59%), and median age was 11 years (range 1-17 years). Totally, 80 BP measurements were recorded during the first days post-kidney transplantation. The correlation coefficients (R) of systolic, diastolic, and MAP of non-invasive (NIBP) and IBP measurements were 0.84, 0.76, and 0.77, respectively (P < 0.01).Overall, the average MAP (7.5 ± 1.2 mm Hg; P < 0.05) NIBP values were lower compared to IBP. In hypertensive patients, MAP (10.4 ± 10.0 mm Hg; P < 0.05) BP values were significantly lower using the NIBP device. Clinically relevant difference of >10 mm Hg was found in 51% (41/80) of measurements and mainly observed in hypertensive measurements.Conclusions: IBP measurement is considered the golden standard for monitoring BP in patients immediately after kidney transplantation. NIBP values showed a good agreement with invasive reading, but the variability of NIBP mainly in hypertensive patients is high as it is the number of clinically relevant differences to IBP. We conclude that IBP remains the golden standard to monitor BP in children directly postoperatively.