We report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal recessive vertebral dysotosis recently identified to be caused by a mutation in the BMPER gene. This condition is characterized by absent or severely delayed ossification of vertebral bodies, short broad thorax, short neck, protuberant abdomen, marked respiratory insufficiency, and normal appendicular skeleton. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. Significant medical intervention and at-home support contributed to the long-term survival of our patient. The patient had tracheomalacia, which resulted in respiratory insufficiency with thoracic insufficiency syndrome (TIS). Tracheostomy and vertical expandable prosthetic titanium rib (VEPTR) insertion operations ameliorated his symptoms. In addition, comprehensive physical and occupational therapy was performed due to chronic hypotonia. A consistent feature of all described DSD cases thus far are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. The patient's renal cysts were monitored with serial ultrasounds at approximately 6-month intervals. The patient was diagnosed with bilateral renal cysts by ultrasound as a neonate, with eventual diagnosis at approximately 20 months of age with nephroblastoma suggesting this maybe an intrinsic part of DSD. The lack of other cases with nephroblastoma is likely related to the previously reported short period of survival.

Introduction Avoiding intubation and promoting noninvasive modes of ventilator support including continuous positive airway pressure (CPAP) in preterm infants minimizes lung injury and optimizes neonatal outcomes. Discharge home on oxygen is an expensive morbidity in very preterm infants (VPI) with lung disease. In 2007 a standardized bundle was introduced for VPI admitted to the neonatal care unit (NICU) which included delayed cord clamping (DCC) at birth and noninvasive ventilation as first-line cardiorespiratory support in the delivery room (DR), followed by bubble CPAP upon NICU admission. Objective Our goal was to evaluate the risk of (1) intubation and (2) discharge home on oxygen after adopting this standardized DR bundle in VPI born at a regional perinatal center and treated in the NICU over a ten-year period (2008-2017). Materials and Methods We compared maternal and neonatal demographics, respiratory care processes and outcomes, as well as neonatal mortality and morbidity in VPI (< 33 weeks gestation) and extremely low birth weight (ELBW, < 1000 g) subgroup for three consecutive epochs: 2008-2010, 2011-2013, and 2014-2017. Results Of 640 consecutive inborn VPI, 55% were < 1500 g at birth and 23% were ELBW. Constant through all three epochs, DCC occurred in 83% of VPI at birth. There was progressive increase in maternal magnesium during the three epochs and decrease in maternal antibiotics during the last epoch. Over the three epochs, VPI had less risk of DR intubation (23% versus 15% versus 5%), NICU intubation (39% versus 31% versus 18%), and invasive ventilation (37% versus 30% versus 17%), as did ELBW infants. Decrease in postnatal steroid use, antibiotic exposure, and increase in early colostrum exposure occurred over the three epochs both in VPI and in ELBW infants. There was a sustained decrease in surfactant use in the second and third epochs. There was no significant change in mortality or any morbidity in VPI; however, there was a significant decrease in pneumothorax (17% versus 0%) and increase in survival without major morbidity (15% versus 41%) in ELBW infants between 2008-2010 and 2014-2017. Benchmarked risk-adjusted rate for oxygen at discharge in a subgroup of inborn VPI (401-1500 g or 22-31 weeks of gestation) is 2.5% (2013-2017) in our NICU compared with > 8% in all California NICUs and > 10% in all California regional NICUs (2014-2016). Conclusion Noninvasive strategies in DR and NICU minimize risk of intubation in VPI without adversely affecting other neonatal or respiratory outcomes. Risk-adjusted rates for discharge home on oxygen remained significantly lower for inborn VPI compared with rates at regional NICUs in California. Reducing intubation risk in ELBW infants may confer an advantage for survival without major morbidity. Prenatal magnesium may reduce intubation risk in ELBW infants.

WHAT'S KNOWN ON THIS SUBJECT: Universal oxygen saturation screening by pulse oximetry is now recommended for early detection of critical congenital heart disease. The distribution of saturations in asymptomatic newborns in a large population has not been described. WHAT THIS STUDY ADDS:Our study is the largest to date to establish simultaneous pre-and postductal oxygen saturation nomograms in asymptomatic newborns at ∼24 hours after birth. The mean postductal saturation is higher than preductal during this time.abstract OBJECTIVE: To establish simultaneous pre-and postductal oxygen saturation nomograms in asymptomatic newborns when screening for critical congenital heart disease (CCHD) at ∼24 hours after birth.METHODS: Asymptomatic term and late preterm newborns admitted to the newborn nursery were screened with simultaneous pre-and postductal oxygen saturation measurements at ∼24 hours after birth. The screening program was implemented in a stepwise fashion in 3 different affiliated institutions. Data were collected prospectively from July 2009 to March 2012 in all 3 centers. RESULTS:We screened 13 714 healthy newborns at a median age of 25 hours. The mean preductal saturation was 98.29% (95% confidence interval [CI]: 98.27-98.31), median 98%, and mean postductal saturation was 98.57% (95% CI: 98.55-98.60), median 99%. The mean difference between the pre-and postductal saturation was 20.29% (95% CI: 20.31 to 20.27) with P , .00005. Its clinical relevance to CCHD screening remains to be determined. The postductal saturation was equal to preductal saturation in 38% and greater than preductal saturation in 40% of the screens. CONCLUSIONS:We have established simultaneous pre-and postductal oxygen saturation nomograms at ∼24 hours after birth based on .13 000 asymptomatic newborns. Such nomograms are important to optimize screening thresholds and methodology for detecting CCHD.