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RCH PHGKB

Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Dec 02, 2023
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What Is Prediabetes?
J Jin, JAMA Patient Corner, December 1, 2023 (Posted Dec 02, 2023 9AM)

From the article: " Prediabetes affects approximately 1 in 3 US adults and about 720 million individuals worldwide. People with prediabetes often have no symptoms, so most people with prediabetes do not know they have it. Risk Factors for Prediabetes include: Being older than 45 years; Being overweight or obese; Being physically active less than 3 times a week; Eating an unhealthy diet; Having a parent or sibling with type 2 diabetes; Having a history of diabetes during pregnancy (gestational diabetes) or giving birth to an infant weighing more than 9 pounds; Having polycystic ovary syndrome."

Cord blood DNA methylation signatures associated with preeclampsia are enriched for cardiovascular pathways: insights from the VDAART trial.
Hanna M Knihtilä et al. EBioMedicine 2023 11 104890 (Posted Nov 29, 2023 9AM)

From the abstract: "Preeclampsia has been associated with maternal epigenetic changes, in particular DNA methylation changes in the placenta. It has been suggested that preeclampsia could also cause DNA methylation changes in the neonate. We examined DNA methylation in relation to gene expression in the cord blood of offspring born to mothers with preeclampsia. This study included 128 mother-child pairs who participated in the Vitamin D Antenatal Asthma Reduction Trial (VDAART), where assessment of preeclampsia served as secondary outcome. We found that preeclampsia is related to differential cord blood DNA methylation signatures of cardiovascular pathways, including the apelin signaling pathway. "

Down Syndrome in a New Era for Alzheimer Disease.
Michael S Rafii et al. JAMA 2023 11 (Posted Nov 29, 2023 9AM)

From the paper: "Despite the ultra-high risk for Alzheimer disease and its effect of a shortened life expectancy, persons with Down syndrome who are experiencing Alzheimer disease–related cognitive decline have limited access to expert clinical evaluation for dementia, let alone these newly approved therapeutics. At the same time, because of the genetic basis for lifelong amyloid accumulation, there are also significant concerns related to cerebral amyloid angiopathy and the risk of adverse events related to amyloid-related imaging abnormalities (ARIA). This requires careful assessment of safety and tolerability in individuals with Down syndrome to be done before these drugs can be widely prescribed in this vulnerable population. "

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Rick Essers et al. Nat Med 2023 11 (Posted Nov 27, 2023 10AM)

From the abstract: "Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental lineages during intrauterine development remain elusive. In this study, we analyzed 1,745 spontaneous pregnancy losses and found that roughly half (50.4%) of the products of conception (POCs) were karyotypically abnormal, with maternal and paternal age independently contributing to the increased genomic aberration rate. "


news Latest News and Publications
A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester. External Web Site Icon
Wei Luo et al. BMC Pregnancy Childbirth 2023 23(1) 791
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders. External Web Site Icon
Mario Cesare Nurchis et al. Eur J Health Econ 2023
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use. External Web Site Icon
Neeta L Vora et al. Prenat Diagn 2023
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis. External Web Site Icon
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. External Web Site Icon
Kee Chan et al. Int J Neonatal Screen 2023 9(4)
Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region. External Web Site Icon
Sarah Jane Driscoll et al. Arch Dis Child 2023
Pain Frequency and Health Care Utilization Patterns in Women with Sickle Cell Disease Experiencing Menstruation-Associated Pain Crises. External Web Site Icon
Catherine Segbefia et al. J Womens Health (Larchmt) 2023
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis. External Web Site Icon
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
The Lived Experience of Pediatric Gene Therapy - A Scoping Review. External Web Site Icon
Laura Kimberly et al. Hum Gene Ther 2023
The new face of cystic fibrosis in the era of population genetic carrier screening. External Web Site Icon
Miri Dotan et al. J Cyst Fibros 2023

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About RCH PHGKB

Reproductive and Child Health PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to reproductive and child Health...more

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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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