Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening
(Posted May 14, 2024 3PM)
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)
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)
The FDA and Gene Therapy for Duchenne Muscular Dystrophy
(Posted May 01, 2024 5PM)
Tasha Wainstein et al. J Adolesc 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch et al. Hum Genomics 2024 18(1) 45
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Danya Salah Baz et al. Front Pediatr 2024 121392444
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Michal Levy et al. Prenat Diagn 2024
New Insights beyond Established Norms: A Scoping Review of Genetic Testing for Infertile Men.
Hamid Kalantari et al. Urol J 2024
Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis and pregnancy outcomes of fetuses with polyhydramnios.
Yanyan Liu et al. J Matern Fetal Neonatal Med 2024 37(1) 2344089
Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care.
Paula van Dommelen et al. Orphanet J Rare Dis 2024 19(1) 192
Risk prediction model based on machine learning for predicting miscarriage among pregnant patients with immune abnormalities.
Yue Wu et al. Front Pharmacol 2024 151366529
Clinical and genomic landscape of RAS mutations in gynecologic cancers.
Ji Son et al. Clin Cancer Res 2024
Cost-Effectiveness of Lovotibeglogene Autotemcel (Lovo-Cel) Gene Therapy for Patients with Sickle Cell Disease and Recurrent Vaso-Occlusive Events in the United States.
William L Herring et al. Pharmacoeconomics 2024
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Marcin W Wlodarski et al. Lancet Haematol 2024 11(5) e368-e382
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Denise M Kay et al. Pediatr Pulmonol 2024
It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.
Samuel S Gidding et al. Glob Heart 2024 19(1) 43
Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center.
Monica Faieta et al. Prenat Diagn 2024
Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.
Magriet van Niekerk et al. Eur J Hum Genet 2024
Walking the tightrope: Fertility preservation among hereditary breast and ovarian Cancer syndrome Previvors.
Sharonne Holtzman et al. Gynecol Oncol 2024 186176-181
Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency Unmasked by Persistent Lymphopenia and Prolonged Severe SARS-CoV-2 Infection in a Three-Week-Old Neonate.
Benslimane Zaineb, et al. Cureus 2024 0 0. (4) e57697
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows.
Katherine Raboin et al. Int J Neonatal Screen 2024 10(2)
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.
Wendy K Chung et al. Int J Neonatal Screen 2024 10(2)
Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.
Miruna Gug et al. J Pers Med 2024 14(4)
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.
Oindrila Bhattacharyya et al. Int J Neonatal Screen 2024 10(2)
Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
Benjamin M Helm et al. Genes (Basel) 2024 15(4)
Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.
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.
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.
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.
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.
Mei Lietsch et al. Int J Neonatal Screen 2024 10(2)
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
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.
Leire Solis et al. Int J Neonatal Screen 2024 10(2)
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Katia Margiotti et al. Curr Issues Mol Biol 2024 46(4) 3209-3217
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
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.
Sangeetha Arumugam et al. Cureus 2024 16(3) e56932
Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.
Edie Bowen et al. J Genet Couns 2024
Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases.
Uday Pratap Singh Parmar et al. Medicina (Kaunas) 2024 60(4)
Use of Digitalisation and Machine Learning Techniques in Therapeutic Intervention at Early Ages: Supervised and Unsupervised Analysis.
María Consuelo Sáiz-Manzanares et al. Children (Basel) 2024 11(4)
Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.
Jia Huang et al. Front Med (Lausanne) 2024 111376319
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
Erica Soster et al. Mol Cytogenet 2024 17(1) 9
Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention.
Shayan M Dioun et al. Am J Obstet Gynecol 2024
EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY.
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.
Tsung-Ling Lee et al. Front Genet 2024 151381172
Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants.
Zhenzhen Zhang et al. JAMA Netw Open 2024 7(4) e247421
Stigma associated with genetic testing for rare diseases-causes and recommendations.
Gareth Baynam et al. Front Genet 2024 151335768
Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study.
Mary A Majumder et al. Ethics Hum Res 2024 46(3) 34-39
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Britt Hanson et al. Clin Chem 2024
Exploration of clinical and ethical issues in an expanded newborn metabolic screening programme: a qualitative interview study of healthcare professionals in Hong Kong.
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.
Sameerah Wahab et al. Cureus 2024 16(3) e56089
Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies.
María Gabriela Palacios-Verdú et al. Reprod Biomed Online 2024 48(6) 103761
Medication Usage Record-Based Predictive Modeling of Neurodevelopmental Abnormality in Infants under One Year: A Prospective Birth Cohort Study.
Tianyi Zhou et al. Healthcare (Basel) 2024 12(7)
Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Deanna M Green et al. Pediatrics 2024
Evaluating thromboprophylaxis in the sickle cell disease population: Navigating the evidence gap.
Jennifer Davila et al. Br J Haematol 2024
Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.
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.
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.
Valentina Giudice et al. Clin Exp Med 2024 24(1) 69
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
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.
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.
Najibah Galadanci et al. Int J Neonatal Screen 2024 10(1)
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
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.
Lieke M van den Heuvel et al. Int J Neonatal Screen 2024 10(1)
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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
Content Summary
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Autism
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Infertility
- Learning disability
- Newborn Screening
- Preeclampsia
- Prematurity
- Prenatal Testing
- Stillbirth
- Sudden Infant Death Syndrome
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.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 14, 2024
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