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RCH PHGKB

Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Nov 30, 2021
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Real-time alerting system for COVID-19 and other stress events using wearable data
A Alavi et al, Nature Medicine, November 21, 2021

In a cohort of 3,318 participants, of whom 84 were infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), this system generated alerts for pre-symptomatic and asymptomatic SARS-CoV-2 infection in 67 (80%) of the infected individuals. Pre-symptomatic signals were observed at a median of 3 days before symptom onset.

Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021

We close the year with a range of interesting and informative papers. Birth defects (congenital anomalies) affect many thousands of neonates every year; yet the aetiology of many of them remains unresolved. A new paper reviews what is known about the genomic basis of congenital diaphragmatic hernia (CDH). Around 10% of cases of CDH are associated with a copy number variant. Implicated pathways include NRF2 and vitamin A homeostasis. In contrast to common malformations, the genetic basis of rare disease continues to be elucidated with more and more causal genes identified annually

Deafness-family matters.
Roux Anne-Françoise et al. European journal of human genetics : EJHG 2021 11

Knowledge on the genetics of hearing loss has spectacularly progressed over the last 30 years, as over 120 genes are today causally implicated in Non-Syndromic Hearing Loss (NSHL). This genetic heterogeneity is further increased by over 400 forms of syndromic sensorineural HL [1]. Knowing the genetic etiology of HL provides benefits for the patient regarding the disease course, as well as monitoring for other potential clinical features. It also helps to estimate the recurrence risk of the condition within a given family. Genetic testing is now included in the global monitoring of hearing loss.

The Imperative of Responsible Innovation in Reproductive Medicine.
Mastenbroek Sebastiaan et al. The New England journal of medicine 2021 11 (22) 2096-2100

Responsible innovation requires that novel, potentially risky reproductive technologies be the subject of careful research that proceeds in a stepwise fashion from preclinical investigation to clinical trials and, ultimately, to long-term follow-up studies. Given the lack of high-level evidence of the effectiveness for PGT-A and the potential for adverse consequences, the use of PGT-A is best limited at present to the research setting.


news Latest News and Publications
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health. External Web Site Icon
Johannessen Jarle et al. European journal of human genetics : EJHG 2021
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort. External Web Site Icon
Chen Shimeng et al. Clinica chimica acta; international journal of clinical chemistry 2021
Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas. External Web Site Icon
Masri Amira T et al. Autism : the international journal of research and practice 2021 13623613211055535
Genetics in Congenital Heart Diseases: Unraveling the Link Between Cardiac Morphogenesis, Heart Muscle Disease, and Electrical Disorders. External Web Site Icon
Baban Anwar et al. Heart failure clinics 2021 18(1) 139-153
Genetics of Childhood Hearing Loss. External Web Site Icon
Mitchell Calli Ober et al. Otolaryngologic clinics of North America 2021 54(6) 1081-1092
NeoSeq: a new method of genomic sequencing for newborn screening. External Web Site Icon
Wang Huaiyan et al. Orphanet journal of rare diseases 2021 16(1) 481
Machine learning approach for the prediction of postpartum hemorrhage in vaginal birth. External Web Site Icon
Akazawa Munetoshi et al. Scientific reports 2021 11(1) 22620
A Quality Improvement Project to Implement Choking Prevention and First Aid Education in Prader-Willi Syndrome Caregivers. External Web Site Icon
Obrynba Kathryn S et al. Journal of clinical medicine 2021 10(21)
A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases. External Web Site Icon
Yang Jian et al. Interdisciplinary sciences, computational life sciences 2021
An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease. External Web Site Icon
Yang Lan et al. Computational and structural biotechnology journal 2021 195741-5751
Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net: Results of the Southwest German CFNBS pilot study. External Web Site Icon
Sommerburg Olaf et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. External Web Site Icon
Du Xiaoli et al. Journal of autism and developmental disorders 2021
Prenatal Diagnosis Nomograms: A Novel Tool to Predict Fetal Chromosomal Abnormalities in High-Risk Patients. External Web Site Icon
Zhou Yangzi et al. Risk management and healthcare policy 2021 144523-4535
Rapid genomic testing for critically ill children: time to become standard of care? External Web Site Icon
Stark Zornitza et al. European journal of human genetics : EJHG 2021
Personalized application of machine learning algorithms to identify pediatric patients at risk for recurrent ureteropelvic junction obstruction after dismembered pyeloplasty. External Web Site Icon
Drysdale Erik et al. World journal of urology 2021
Radiomics signature for temporal evolution and recurrence patterns of glioblastoma using multimodal magnetic resonance imaging. External Web Site Icon
Chougule Tanay et al. NMR in biomedicine 2021 e4647
Association between maternal depression during pregnancy and newborn DNA methylation External Web Site Icon
E Drzymalla et al, Trans Psychiatry, November 9, 2021
[Analysis of the results of chromosomal trisomies 21, 18 and 13 screening among 40 628 women by non-invasive prenatal testing]. External Web Site Icon
Wang Dongmei et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 38(11) 1045-1050
Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis. External Web Site Icon
Li Sen et al. PloS one 2021 16(11) e0259518
Combining genetic risk score with artificial neural network to predict the efficacy of folic acid therapy to hyperhomocysteinemia. External Web Site Icon
Chen Xiaorui et al. Scientific reports 2021 11(1) 21430
Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome. External Web Site Icon
Mehboob Riffat et al. Frontiers in pediatrics 2021 9742225
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. External Web Site Icon
Boyce Danielle et al. Epilepsy & behavior : E&B 2021 125108365
Exploring the use of a Comic for Education about Expanded Carrier Screening among a Diverse Group of Mothers. External Web Site Icon
Rothwell Erin et al. Journal of communication in healthcare 2021 14(3) 252-258
Genetic neuromuscular disorders: what is the best that we can do? External Web Site Icon
Laing Nigel G et al. Neuromuscular disorders : NMD 2021 31(10) 1081-1089
Genetics of congenital heart disease: a narrative review of recent advances and clinical implications. External Web Site Icon
Yasuhara Jun et al. Translational pediatrics 2021 10(9) 2366-2386
Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus. External Web Site Icon
Dahir Kathryn et al. The Journal of clinical endocrinology and metabolism 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. External Web Site Icon
Cloney Thomas et al. Journal of medical genetics 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. External Web Site Icon
Schon Katherine R et al. BMJ (Clinical research ed.) 2021 375e066288
Artificial Intelligence in Rehabilitation Targeting the Participation of Children and Youth With Disabilities: Scoping Review. External Web Site Icon
Kaelin Vera C et al. Journal of medical Internet research 2021 23(11) e25745
Development and Validation of a Deep Learning Strategy for Automated View Classification of Pediatric Focused Assessment With Sonography for Trauma. External Web Site Icon
Kornblith Aaron E et al. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2021

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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