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The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998-2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow-up if they were absent from in-house controls, contained ≥ 10 consecutive probes, were ≥ 20 Kb in size, had ≤ 20% overlap with variants detected in other birth defect phenotypes screened in our lab, and were rare in population reference controls. We identified 47 rare candidate PUV-associated CNVs in 32 cases; one case had a 3.9 Mb deletion encompassing BMP7. Mutations in BMP7 have been associated with severe anomalies in the mouse urethra. Other interesting CNVs, each detected in a single PUV case included: a deletion of PIK3R3 and TSPAN1, duplication/triplication in FGF12, duplication of FAT1--a gene essential for normal growth and development, a large deletion (>2 Mb) on chromosome 17q that involves TBX2 and TBX4, and large duplications (>1 Mb) on chromosomes 3q and 6q. Our finding of previously unreported novel CNVs in PUV suggests that genetic factors may play a larger role than previously understood. Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV.

Background Adipokines can serve as a measure of adipose tissue activity. Although birthweight correlates with neonatal adiposity, findings for cord blood levels of adipokines and birth outcomes have been conflicted. Therefore, we determined the cross-sectional associations between adipokines measured in newborn dried blood spots (DBS) and birth outcomes. Methods The Upstate KIDS study enrolled mothers and infants from 2008 to 2010. Among infants whose parents consented to the use of residual DBS from newborn screening, 2397 singletons and 1240 twins had adipokine measurements from the Human Obesity Panel (R&D Systems) by Luminex. Odds ratios were estimated by multivariable logistic regression for risk of birth outcomes of preterm delivery (

Data on birth weight for gestational age are not well described for infants with trisomy 21 (T21), trisomy 18 (T18), or trisomy 13 (T13). We report on anthropometric charts of infants with these conditions using data from the Vermont Oxford Network (VON). Data from a total of 5147 infants with T21 aged 22–41 weeks, 1053 infants with T18 aged 22–41 weeks and 613 infants with T13 aged 22–40 weeks were used to create birth weight for gestational age charts. Head circumference for gestational age charts were created for infants with T21 only. Combined-sex charts were generated for infants with T18 or T13 while sex-specific charts were generated for infants with T21. Smoothed centiles were created using LmsChartMaker Pro 2.3. Among the three examined groups, infants with T18 were the most likely to be growth restricted while infants with T21 were the least likely to be growth restricted. The new charts for infants with T21 were also compared to the Lubchenco and Fenton charts and both show frequent misclassification of infants with T21 as small or large for gestational age. The new charts should prove to be useful, especially for infants with T21, to assist in medical management and guide nutrition care decisions.