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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Sep 26, 2022
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Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
GT Timmins et al, Public Health Genomics, September 2022

We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood.

The controversial embryo tests that promise a better baby Some companies offer tests that rank embryos based on their risk of developing complex diseases such as schizophrenia or heart disease. Are they accurate — or ethical?
M Koslov, Nature, September 21, 2022

Pre-implantation genetic testing (PGT) for rare genetic disorders and chromosomal abnormalities has become common practice in the US$14-billion IVF industry. But testing for polygenic conditions (often referred to as PGT-P) is much newer, with only a small handful of companies selling it in a few countries, including the United States and Brazil, where it is largely unregulated.

Stressful start causes chromosome errors in human embryos
T Cavazza et al, Nature, September 16, 2022

Analysis of early human embryos reveals that DNA duplication after fertilization is highly inefficient. This causes DNA damage, chromosome breaks and abnormal numbers of chromosomes, impairing embryo development.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
B va der Sanden et al, EJHG, September 15, 2022

Our data demonstrate the technical and clinical validity of GS to serve as routine first-tier genetic test for patients with NDD. Although the additional diagnostic yield from GS is limited, GS comprehensively identified all variants in a single experiment, suggesting that GS constitutes a more efficient genetic diagnostic workflow.


news Latest News and Publications
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing. External Web Site Icon
Timmins George Thomas et al. Public health genomics 2022 1-8
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes. External Web Site Icon
Mossfield Tamara et al. Frontiers in genetics 2022 13975987
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns. External Web Site Icon
Martín-Rivada Álvaro et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics. External Web Site Icon
Minear Mollie A et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools. External Web Site Icon
Hall Patricia Liane et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks. External Web Site Icon
Pehrsson Minja et al. Molecular genetics and metabolism reports 2022 33100911
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. External Web Site Icon
van der Sanden Bart P G H et al. European journal of human genetics : EJHG 2022
Adverse pregnancy outcomes in women with systemic lupus erythematosus: can we improve predictions with machine learning? External Web Site Icon
Fazzari Melissa J et al. Lupus science & medicine 2022 9(1)
Application and research progress of machine learning in the diagnosis and treatment of neurodevelopmental disorders in children. External Web Site Icon
Song Chao et al. Frontiers in psychiatry 2022 13960672
Development and validation of prediction models for gestational diabetes treatment modality using supervised machine learning: a population-based cohort study. External Web Site Icon
Liao Lauren D et al. BMC medicine 2022 20(1) 307
Combining Machine Learning with Metabolomic and Embryologic Data Improves Embryo Implantation Prediction. External Web Site Icon
Cheredath Aswathi et al. Reproductive sciences (Thousand Oaks, Calif.) 2022
Development of a Model Predicting the Outcome of In Vitro Fertilization Cycles by a Robust Decision Tree Method. External Web Site Icon
Fu Kaiyou et al. Frontiers in endocrinology 2022 13877518
A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions. External Web Site Icon
Xie Pingyuan et al. Human reproduction (Oxford, England) 2022
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives. External Web Site Icon
van der Kaay Danielle Christine Maria et al. Endocrine connections 2022
Early cost-utility analysis of genetically-guided therapy for patients with drug-resistant epilepsy. External Web Site Icon
Gordon Louisa G et al. Epilepsia 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. External Web Site Icon
Lindstrand Anna et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Identification of 14 novel susceptibility loci for diaphragmatic hernia development and their biological and clinical implications: results from the UK Biobank. External Web Site Icon
Campbell Michelle et al. Surgical endoscopy 2022
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: NEED FOR GREATER ADHERENCE TO PUBLISHED GUIDELINES. External Web Site Icon
Cornthwaite M et al. Prenatal diagnosis 2022
Integrating rapid exome sequencing into NICU clinical care after a pilot research study. External Web Site Icon
D'Gama Alissa M et al. NPJ genomic medicine 2022 7(1) 51
Prenatal genetic testing 1: screening tests. External Web Site Icon
Jenkins Morgan et al. Current opinion in pediatrics 2022

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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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