Thyroid dysfunction is common among premature infants born before 30 weeks gestation. The majority of cases with thyroid dysfunction had CH with delayed TSH elevation, which was not detected by NBS. We recommend measurement of serum TSH and free T4 levels on day of life 30 in premature infants born at <30 weeks gestation to identify patients with CH with delayed TSH elevation.

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BackgroundPersistent pulmonary hypertension of the newborn (PPHN) is characterized by elevated pulmonary vascular resistance. Endogenous nitric oxide is critical for regulation of pulmonary vascular resistance. Nitric oxide is generated from L-arginine, supplied by the urea cycle (UC). We hypothesized that polymorphisms in UC enzyme genes and low concentrations of UC intermediates are associated with PPHN.MethodsWe performed a family-based candidate gene analysis to study 48 single-nucleotide polymorphisms (SNPs) in six UC enzyme genes. Genotyping was carried out in 94 infants with PPHN and their parents. We also performed a case-control analysis of 32 cases with PPHN and 64 controls to identify an association between amino-acid levels on initial newborn screening and PPHN.ResultsThree SNPs (rs41272673, rs4399666, and rs2287599) in carbamoyl phosphate synthase 1 gene (CPS1) showed a significant association with PPHN (P=0.02). Tyrosine levels were significantly lower (P=0.003) and phenylalanine levels were significantly higher (P=0.01) in cases with PPHN. There was no difference in the arginine or citrulline levels between the two groups.ConclusionsThis study suggests an association (P<0.05) between SNPs in CPS1 and PPHN. These findings warrant further replication in larger cohorts of patients.

BACKGROUND AND OBJECTIVES: Many newborn screening (NBS) programs now perform repeat or serial NBS to detect congenital hypothyroidism. There is wide variation in thyroid-stimulating hormone (TSH) cutoffs used by NBS programs. Data on TSH reference ranges in preterm infants at increasing postnatal age are limited. Our study objective was to determine TSH reference ranges for preterm infants born at &lt;32 weeks’ gestation. METHODS: We analyzed serial TSH levels on NBS performed on infants born between 22 and 31 weeks’ gestation from 2012 to 2016 in Wisconsin. The study cohort was divided into 2 groups (22–27 and 28–31 weeks), and TSH percentiles were defined from birth to the term equivalent gestational age. RESULTS: The study cohort consisted of 1022 and 2115 infants born at 22 to 27 and 28 to 31 weeks’ gestation, respectively. The 95th percentile TSH level for the group born at 22 to 27 weeks’ gestation gradually decreased and reached a nadir at ∼10 to 11 weeks. In contrast, for the group born at 28 to 31 weeks’ gestation, the 95th percentile TSH level reached a nadir at ∼5 to 6 weeks. At 3 to 4 weeks after birth, the 95th percentile TSH level ranged from 11 to 11.8 μIU/mL for the group born at 22 to 27 weeks’ gestation and ranged from 8.2 to 9 μIU/mL for the group born at 28 to 31 weeks’ gestation. CONCLUSIONS: Using a statewide cohort of preterm infants, we constructed TSH reference charts from birth to the term equivalent gestation for preterm infants born at &lt;32 weeks’ gestation. Use of a single cutoff for all preterm infants might lead to misdiagnosis. The differences in TSH levels according to gestational-age categories might explain the increased frequency in congenital hypothyroidism diagnoses among preterm infants. These data are useful for defining age-adjusted NBS TSH cutoffs for preterm infants.

The rate of UTIs in RSV-positive febrile infants is very low (1.1%) with the 2011 AAP diagnostic criteria. Previously described increased risk of UTIs may represent asymptomatic bacteriuria or contaminated specimens.