The use of in-hospital guidelines for prevention of sudden unexpected postnatal collapse: A national survey.

AIM: Sudden unexpected postnatal collapse is a life-threatening event and may occur in any newborn infant. Safe skin-to-skin contact, and awareness of sudden unexpected postnatal collapse are key to its prevention. The aim of this study was to survey the presence of skin-to-skin contact and/or sudden unexpected postnatal collapse protocols in the 70 perinatal centres in the Netherlands. METHODS: We performed a survey among Dutch paediatricians to examine the safe skin-to-skin contact and sudden unexpected postnatal collapse protocols. RESULTS: We received data from 59/70 (85%) perinatal centres. At least one case of sudden unexpected postnatal collapse was reported in 35/59 (59%) of these centres. Nearly half the centres had safe skin-to-skin contact and/or sudden unexpected postnatal collapse protocols. Ultimately, 16 protocols were available for analysis. They showed considerable differences in the type of perinatal care provided. Most protocols lacked recently published insights on safe skin-to-skin contact. Besides, protocols failed to incorporate awareness of and knowledge on how to prevent sudden unexpected postnatal collapse. CONCLUSION: This study underlines the importance of drawing up uniform, multidisciplinary guidelines containing recommendations for the prevention of sudden unexpected postnatal collapse in the Netherlands.

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test result may guide clinical decision making. The implementation of rES has revolutionized medicine by enabling timely identification of genetic causes for various rare diseases. The utilization of rES has increasingly been recognized as an essential diagnostic tool for the identification of complex and undiagnosed genetic disorders. Methods: We conducted a retrospective evaluation of our experiences with rES performed on 575 critically ill patients from various age groups (prenatal to adulthood), over a four-year period (2016-2019). These patients presented with a wide spectrum of rare diseases, including but not limited to neurological disorders, severe combined immune deficiency, and cancer. Results: During the study period, there was a significant increase in rES referrals, with a rise from a total of two referrals in Q1-2016 to 10 referrals per week in Q4-2019. The median turnaround time (TAT) decreased from 17 to 11 days in the period 2016-2019, with an overall median TAT of 11 days (IQR 8-15 days). The overall diagnostic yield for this cohort was 30.4%, and did not significantly differ between the different age groups (e.g. adults 22.2% vs children 31.0%; p-value 0.35). However, variability in yield was observed between clinical entities: craniofacial anomalies yielded 58.3%, while for three clinical entities (severe combined immune deficiency, aneurysm, and hypogonadotropic hypogonadism) no diagnoses were obtained. Discussion: Importantly, whereas clinical significance is often only attributed to a conclusive diagnosis, we also observed impact on clinical decision-making for individuals in whom no genetic diagnosis was established. Hence, our experience shows that rES has an important role for patients of all ages and across the broad spectrum of rare diseases to impact clinical outcomes.

Early postnatal calcium and phosphorus metabolism in preterm infants.

OBJECTIVES: Bone mineralisation in preterm infants is related to the supply of calcium (Ca) and phosphorus (P). We increased the amount of minerals in parenteral nutrition (PN) for preterm infants and evaluated postnatal Ca and P metabolism in relation to mineral and vitamin D (vitD) intake. METHODS: Preterm infants, included on their first day of life, received standard PN, providing a maximum Ca/P intake of 3/1.92 mmol · kg(-1) · day(-1) on day 3. Ca/P content of formula was 2.5/1.6 mmol/dL, and fortified human milk was 2.4/1.95 mmol/dL. PN supplied 80 IU · kg(-1) · day(-1) vitD. Formula and fortified human milk contained 200 IU/dL of vitD. During a 5-week period, serum concentrations and urinary excretion of Ca/P were registered and related to the intake of minerals and vitD. RESULTS: During 12 months, 79 infants (mean gestational age 29.8 ± 2.2 weeks, mean birth weight 1248 ± 371 g) were included. The recommended intake for minerals was achieved by day 5 and for vitD by 4 weeks. Infants developed hypercalcaemia, hypercalciuria, and hypophosphataemia during the first postnatal week, leading to the additional P supplementation in 49 infants. The renal tubular reabsorption of P was >95% until day 9 but decreased <70% after the second week. Alkaline phosphatase was normal at birth, increased to a maximum of 450 IU/L by day 14, and remained above the normal range for the remaining period. CONCLUSIONS: Parenteral intake of P appeared to be too low, leading to mineral imbalances in the early postnatal period, and vitD intake was also below recommendations.