Pulse oximetry oxygen saturation (SpO ₂ )-based critical congenital heart disease (CCHD) screening is effective in detection of cyanotic heart lesions. We report a full-term male infant with normal perfusion who had passed the CCHD screening at approximately 24 hours after birth with preductal SpO ₂ of 99% and postductal SpO ₂ of 97%. Detection of a loud systolic cardiac murmur before discharge led to the diagnosis of pulmonary atresia (PA) with ventricular septal defect (PA-VSD) by echocardiogram. The infant was transferred to a tertiary care center after initiation of prostaglandin E1 (PGE1) therapy. Throughout the initial course, he was breathing comfortably without respiratory distress or desaturations on pulse oximetry. We believe that this is the first documented report of PA missed by CCHD screening. Thorough and serial clinical examinations of the newborn infant proved vital in the timely diagnosis of this critical disease. We review the hemodynamics and the recent literature evaluating utility of CCHD screening in the diagnosis of PA-VSD. Pulse oximetry-based CCHD screening should be considered a tool to enhance CCHD detection with an emphasis on detailed serial physical examinations in newborn infants.

To investigate the effects of surfactant proteins A and D (SP-A and SP-D, respectively) in urinary tract infection (UTI), SP-A and SP-D double knockout (SP-A/D KO) and wild type (WT) C57BL/6 female mice were infected with uropathogenic Escherichia coli by intravesical inoculation. Compared with WT mice SP-A/D KO mice showed increased susceptibility to UTI, as evidenced by higher bacterial CFU, more infiltrating neutrophils and severe pathological changes. Keratinocyte-derived chemokine increased in the kidney of WT mice but not in SP-A/D KO mice 24 h post-infection. Compared with control, the level of IL-17 was elevated in the kidney of infected WT and SP-A/D KO mice and the level of IL-17 was higher in the infected SP-A/D KO mice than in infected WT mice 24 and 48 h post-infection. The basal level of p38 MAPK phosphorylation in SP-A/D KO mice was higher than in WT mice. The phosphorylated p38 level was elevated in the kidney of WT mice post infection but not in SP-A/D KO mice. Furthermore, in vitro growth of uropathogenic E. coli was inhibited by SP-A and SP-D. We conclude that SP-A and SP-D function as mediators of innate immunity by inhibiting bacterial growth and modulating renal inflammation in part by regulating p38 MAPK-related pathway in murine UTI.

A term male neonate developed severe intractable lactic acidosis on day of life 1 and died the same day at our institution. The family previously lost another term, female newborn on day of life 1 from suspected sepsis at an outside hospital. After performing an autopsy on the neonate who died at our institution, extensive and lengthy neonatal and parental genetic testing, as well as biochemical analyses, and whole exome sequencing analysis identified compound heterozygous mutations in the lipoyltransferase 1 (LIPT1) gene responsible for the lipoylation of the 2-keto dehydrogenase complexes in the proband. These mutations were also identified in the deceased sibling. The clinical manifestations of these two siblings are consistent with those recently described in two unrelated families with lactic acidosis due to LIPT1 mutations, an underrecognized and underreported cause of neonatal death. Conclusions. Our observations contribute to the delineation of a new autosomal recessive metabolic disorder, leading to neonatal death. Our case report also highlights the importance of an interdisciplinary team in solving challenging cases.

BACKGROUND/PURPOSE: Gastroschisis is a resource-intensive birth defect without consensus regarding optimal surgical and medical management. We sought to determine best-practice guidelines by examining differences in multi-institutional practices and outcomes. METHODS: Site-specific practice patterns were queried, and infant-maternal chart review was retrospectively performed for gastroschisis infants treated at 5 UCfC institutions (2007-2012). The primary outcome was length of stay. Univariate analysis was done to assess variation practices and outcomes by site. Multivariate models were constructed with site as an instrumental variable and with sites grouped by silo practice pattern adjusting for confounding factors. RESULTS: Of 191 gastroschisis infants, 164 infants were uncomplicated. Among uncomplicated patients, there were no deaths and only one case of necrotizing enterocolitis. Bivariate analysis revealed significant differences in practices and outcomes by site. Despite wide variations in practice patterns, there were no major differences in outcome among sites or by silo practice, after adjusting for confounding factors. CONCLUSIONS: Wide variability exists in institutional practice patterns for infants with gastroschisis, but poor outcomes were not associated with expeditious silo or primary closure, avoidance of routine paralysis, or limited central line and antibiotic durations. Development of clinical pathways incorporating these practices may help standardize care and reduce health care costs.

Objective

To identify perinatal variables associated with adverse outcomes in neonates prenatally diagnosed with gastroschisis.

Methods

A retrospective review was conducted of all inborn pregnancies complicated by gastroschisis within the five institutions of the University of California Fetal Consortium from 2007 to 2012. The primary outcome was a composite adverse neonatal outcome comprising death, reoperation, gastrostomy, and necrotizing enterocolitis. Variables collected included antenatal ultrasound findings, maternal smoking or drug use, gestational age at delivery, preterm labor, elective delivery, mode of delivery, and birth weight. Univariate and multivariate analysis was used to assess factors associated with adverse outcomes. We also evaluated the association of preterm delivery with neonatal outcomes such as total parenteral nutrition cholestasis and length of stay.

Results

There were 191 neonates born with gastroschisis in University of California Fetal Consortium institutions at a mean gestational age of 36 3/7±1.8 weeks. Within the cohort, 27 (14%) had one or more major adverse outcomes, including three deaths (1.6%). Early gestational age at delivery was the only variable identified as a significant predictor of adverse outcomes on both univariate and multivariate analysis (odds ratio 1.4, 95% confidence interval 1.1-1.8 for each earlier week of gestation). Total parenteral nutrition cholestasis was significantly more common in neonates delivered at less than 37 weeks of gestation (38/115 [33%] compared with 11/76 [15%]; P<.001).

Conclusion

In this contemporary cohort, earlier gestational age at delivery is associated with adverse neonatal outcomes in neonates with gastroschisis. Other variables, such as antenatal ultrasound findings and mode of delivery, did not predict adverse neonatal outcomes.

Objective

To identify perinatal variables associated with adverse outcomes in neonates prenatally diagnosed with gastroschisis.

Methods

A retrospective review was conducted of all inborn pregnancies complicated by gastroschisis within the five institutions of the University of California Fetal Consortium from 2007 to 2012. The primary outcome was a composite adverse neonatal outcome comprising death, reoperation, gastrostomy, and necrotizing enterocolitis. Variables collected included antenatal ultrasound findings, maternal smoking or drug use, gestational age at delivery, preterm labor, elective delivery, mode of delivery, and birth weight. Univariate and multivariate analysis was used to assess factors associated with adverse outcomes. We also evaluated the association of preterm delivery with neonatal outcomes such as total parenteral nutrition cholestasis and length of stay.

Results

There were 191 neonates born with gastroschisis in University of California Fetal Consortium institutions at a mean gestational age of 36 3/7±1.8 weeks. Within the cohort, 27 (14%) had one or more major adverse outcomes, including three deaths (1.6%). Early gestational age at delivery was the only variable identified as a significant predictor of adverse outcomes on both univariate and multivariate analysis (odds ratio 1.4, 95% confidence interval 1.1-1.8 for each earlier week of gestation). Total parenteral nutrition cholestasis was significantly more common in neonates delivered at less than 37 weeks of gestation (38/115 [33%] compared with 11/76 [15%]; P<.001).

Conclusion

In this contemporary cohort, earlier gestational age at delivery is associated with adverse neonatal outcomes in neonates with gastroschisis. Other variables, such as antenatal ultrasound findings and mode of delivery, did not predict adverse neonatal outcomes.

Objectives

To perform a multicenter study to assess growth failure in hospitalized infants with gastroschisis.

Study design

This study included neonates with gastroschisis within sites in the University of California Fetal Consortium. The study's primary outcome was growth failure at hospital discharge, defined as a weight or length z score decrease >0.8 from birth. Regression analysis was performed to assess changes in z scores over time.

Results

Among 125 infants with gastroschisis, the median gestational age was 37 weeks (IQR 35-37). Length of stay was 32 days (23-60); 55% developed weight or length growth failure at discharge (28% had weight growth failure, 42% had length growth failure, and 15% had both weight and length growth failure). Weight and length z scores at 14 days, 30 days, and discharge were less than birth (P < .01 for all). Weight and length z scores declined from birth to 30 days (-0.10 and -0.11 z score units/week, respectively, P < .001). Length growth failure at discharge was associated with weight and length z score changes over time (P < .05 for both). Lower gestational age was associated with weight growth failure (OR 0.70 for each gestational age week, 95% CI 0.55-0.89, P = .004).

Conclusions

Growth failure, in particular linear growth failure, is common in infants with gastroschisis. These data suggest the need to improve nutritional management in these infants.

Background/purpose

Gastroschisis is a resource-intensive birth defect without consensus regarding optimal surgical and medical management. We sought to determine best-practice guidelines by examining differences in multi-institutional practices and outcomes.

Methods

Site-specific practice patterns were queried, and infant-maternal chart review was retrospectively performed for gastroschisis infants treated at 5 UCfC institutions (2007-2012). The primary outcome was length of stay. Univariate analysis was done to assess variation practices and outcomes by site. Multivariate models were constructed with site as an instrumental variable and with sites grouped by silo practice pattern adjusting for confounding factors.

Results

Of 191 gastroschisis infants, 164 infants were uncomplicated. Among uncomplicated patients, there were no deaths and only one case of necrotizing enterocolitis. Bivariate analysis revealed significant differences in practices and outcomes by site. Despite wide variations in practice patterns, there were no major differences in outcome among sites or by silo practice, after adjusting for confounding factors.

Conclusions

Wide variability exists in institutional practice patterns for infants with gastroschisis, but poor outcomes were not associated with expeditious silo or primary closure, avoidance of routine paralysis, or limited central line and antibiotic durations. Development of clinical pathways incorporating these practices may help standardize care and reduce health care costs.