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Specific PHGKB|Reproductive and Child Health PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last Posted: May 16, 2024
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Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening
(Posted May 14, 2024 3PM)

From the paper: "Question: Among US adults, what are the general attitudes, interests, and concerns regarding polygenic embryo screening (PES)? Findings: In this survey study exploring public sentiment toward PES, there was high approval and interest among respondents despite high societal concerns. In a second sample, presenting concerns at survey onset (vs survey end) was associated with less public approval and more uncertainty but with only slightly higher disapproval. Meaning: With the recent commercial availability of unregulated PES, the combination of high approval and high concerns observed among respondents in this study suggests the need for informed dialogue and guidance, particularly in addressing the divide between the public and health care professionals. "

Placental DNA methylation signatures of prenatal air pollution exposure and potential effects on birth outcomes: an analysis of three prospective cohorts
(Posted May 09, 2024 6PM)

From the abstract: "Pregnancy air pollution exposure (PAPE) has been linked to a wide range of adverse birth and childhood outcomes, but there is a paucity of data on its influence on the placental epigenome, which can regulate the programming of physiological functions and affect child development. This study aimed to investigate the association between prenatal air pollutant exposure concentrations and changes in placental DNA methylation patterns, and to explore the potential windows of susceptibility and sex-specific alterations. "

Global, regional, and national burden of thalassemia, 1990–2021: a systematic analysis for the global burden of disease study 2021
(Posted May 09, 2024 6PM)

From the abstract: "The global burden of thalassemia, reflected in its prevalence, incidence, mortality, and DALYs, exhibits significant disparities. Geographic and demographic shifts in disease distribution have been observed from 1990 to 2021, with an overall decrease in burden, yet an increase in cases among the elderly population. Analysis of epidemiological trends over time highlights the influence of health policies and significant public health interventions on thalassemia outcomes. "

The FDA and Gene Therapy for Duchenne Muscular Dystrophy
(Posted May 01, 2024 5PM)

From the article: " DMD is the largest human gene and has 79 exons. This large size creates issues for gene therapies, but also opportunities, because shortened forms of dystrophin can have some ability to preserve muscle function, although less than the full-length dystrophin protein. A less severe and clinically variable form of muscular dystrophy, Becker muscular dystrophy, is due to alterations in DMD that result in variable levels of expression (5%-50% of normal) of a shortened form of dystrophin."


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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy. External Web Site Icon
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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing. External Web Site Icon
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Esl Pedersen et al. J Cyst Fibros 2024
Danish Diabetes Birth Registry 2: a study protocol of a national prospective cohort study to monitor outcomes of pregnancies of women with pre-existing diabetes. External Web Site Icon
Sine Knorr et al. BMJ Open 2024 14(4) e082237
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review. External Web Site Icon
Kirsten A Riggan et al. BMC Pediatr 2024 24(1) 263
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis. External Web Site Icon
Corinna C A Clark et al. Int J Neonatal Screen 2024 10(2)
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening. External Web Site Icon
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Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability. External Web Site Icon
Annelieke R Müller et al. Ther Adv Rare Dis 2024 526330040241245721
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress. External Web Site Icon
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Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience. External Web Site Icon
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Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing. External Web Site Icon
Anett Illés et al. BMC Med Genomics 2024 17(1) 98
Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study. External Web Site Icon
Sangeetha Arumugam et al. Cureus 2024 16(3) e56932
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Use of Digitalisation and Machine Learning Techniques in Therapeutic Intervention at Early Ages: Supervised and Unsupervised Analysis. External Web Site Icon
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Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium. External Web Site Icon
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Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention. External Web Site Icon
Shayan M Dioun et al. Am J Obstet Gynecol 2024
EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY. External Web Site Icon
Silvia Ricci et al. J Allergy Clin Immunol Pract 2024
Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes. External Web Site Icon
Tsung-Ling Lee et al. Front Genet 2024 151381172
Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants. External Web Site Icon
Zhenzhen Zhang et al. JAMA Netw Open 2024 7(4) e247421
Stigma associated with genetic testing for rare diseases-causes and recommendations. External Web Site Icon
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Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study. External Web Site Icon
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Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples. External Web Site Icon
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families. External Web Site Icon
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Exploration of clinical and ethical issues in an expanded newborn metabolic screening programme: a qualitative interview study of healthcare professionals in Hong Kong. External Web Site Icon
O M Y Ngan et al. Hong Kong Med J 2024
Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review. External Web Site Icon
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Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies. External Web Site Icon
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Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population. External Web Site Icon
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Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID. External Web Site Icon
Deanna M Green et al. Pediatrics 2024
Evaluating thromboprophylaxis in the sickle cell disease population: Navigating the evidence gap. External Web Site Icon
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Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions. External Web Site Icon
Julia Wynn et al. J Autism Dev Disord 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. External Web Site Icon
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93
Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies. External Web Site Icon
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The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders. External Web Site Icon
Bethany Stafford-Smith et al. J Genet Couns 2024
A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples. External Web Site Icon
Hong Su et al. Medicine (Baltimore) 2024 103(13) e37610
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study. External Web Site Icon
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Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance. External Web Site Icon
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1)
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents. External Web Site Icon
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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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