Newborn Screening - StatPearls - NCBI Bookshelf
2023年5月1日 · The U.S. newborn screening program attempts to uphold the core pillars of medical ethics: beneficence, non-maleficence, justice, and autonomy. The benefit of newborn …
Newborn Screening and the Role of the Obstetrician Gynecologist
Newborn screening is the largest genetic screening program in the United States, with approximately 4 million infants screened annually 1. Newborn screening is a mandatory state …
Genomic Sequencing as a First-Tier Screening Test and Outcomes …
2023年9月5日 · In this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional …
Newborn genetic testing in the United States and access to …
Newborn screening tests (NST) are important public health procedures with potential to improve quality of life, and decrease morbidity/mortality by identifying metabolic, genetic, enzymatic, …
Summary of initial literature search results by database for Krabbe disease search terms, and number of articles identified from primary literature search (1/1/2010 – 7/1/2022) and bridge …
Progress in expanding newborn screening in the United States
2023年6月6日 · To the Editor: We read with interest the recent article by Kingsmore et al., who suggest that universal newborn rapid whole-genome sequencing is attractive for …
A framework for evaluating long-term impact of newborn screening …
2023年10月3日 · Population-based newborn bloodspot screening (NBS) targets treatable conditions that are life-threatening or may cause irreversible damage if treatment is postponed …
Is Our Newborn Screening Working Well? A Literature Review of …
2023年6月22日 · Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, …
Newborn Screening: Beyond the Spot - PubMed
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the …
Challenges of using whole genome sequencing in population newborn screening
2024年3月5日 · Use of genetics in newborn screening. Current newborn screening is largely based on biochemical tests, but screening for cystic fibrosis involves a second step of genetic …