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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Dec 01, 2022
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Multi-omics signatures of the human early life exposome
L Maitre et al, Nature Comm, November 21, 2022

In the Human Early Life Exposome (HELIX) project, a multi-centre cohort of 1301 mother-child pairs, we associate individual exposomes consisting of >100 chemical, outdoor, social and lifestyle exposures assessed in pregnancy and childhood, with multi-omics profiles (methylome, transcriptome, proteins and metabolites) in childhood. We identify 1170 associations, 249 in pregnancy and 921 in childhood, which reveal potential biological responses and sources of exposure. Pregnancy exposures, including maternal smoking, cadmium and molybdenum, are predominantly associated with child DNA methylation changes.

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
M Beaman et al, J Per Med, November 18, 2022

We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the limitations of rapid genome sequencing, and some of the challenges with sample collection.

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research
AR Blumling et al, J Per Med, November 16, 2022

We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%). Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
K Jalal et al, IJNS, November 15, 2022

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases.

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A comprehensive list of human microdeletion and microduplication syndromes. External Web Site Icon
Wetzel Alyssa S et al. BMC genomic data 2022 23(1) 82
Developmental dysplasia of the hip: A systematic review of susceptibility genes and epigenetics. External Web Site Icon
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Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. External Web Site Icon
Haviland Isabel et al. Pediatric neurology 2022 13871-80
Inborn errors of metabolism refuse to stay-at-home: Experiences of a state-wide biochemical genetics service during the COVID-19 pandemic. External Web Site Icon
Gutierrez Bea et al. Journal of paediatrics and child health 2022
Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile. External Web Site Icon
Zhang Min et al. Journal of translational medicine 2022 20(1) 536
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors. External Web Site Icon
Kharrazi Martin et al. International journal of neonatal screening 2022 8(4)
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. External Web Site Icon
Blumling Amy A et al. Journal of personalized medicine 2022 12(11)
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders. External Web Site Icon
Boychuk Natalie A et al. International journal of neonatal screening 2022 8(4)
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. External Web Site Icon
Beaman Makenzie et al. Journal of personalized medicine 2022 12(11)
Rock Michael J et al. Pediatric pulmonology 2022


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