ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2022
Newborn screening for neurodevelopmental diseases: Are we there yet?
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- A Systematic Review of Methods and Practice for Integrating Maternal, Fetal, and Child Health Outcomes, and Family Spillover Effects into Cost-Utility Analyses.PharmacoEconomics · 2024Pooled it
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- Article
- Early Intervention services in the era of genomic medicine: setting a research agenda.Pediatric research · 2025Review
- Prenatal gene editing for neurodevelopmental diseases: Ethical considerations.American journal of human genetics · 2025Review
- Twenty-Five Years of Evolution and Hurdles in Electronic Health Records and Interoperability in Medical Research: Comprehensive Review.Journal of medical Internet research · 2025Review
- Integrative genetic analysis: cornerstone of precision psychiatry.Molecular psychiatry · 2025Review
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.International journal of neonatal screening · 2024Article
- The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024Review
- An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.International journal of neonatal screening · 2024Article
- Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.International journal of neonatal screening · 2024Article
- Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.International journal of neonatal screening · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities.Pediatrics · 2023Article
- Unraveling Lifelong Brain Morphometric Dynamics: A Protocol for Systematic Review and Meta-Analysis in Healthy Neurodevelopment and Ageing.Biomedicines · 2023Article
- Arguments for and against the whole-genome sequencing of newborns.American journal of translational research · 2023Review
- GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.Molecular therapy. Methods & clinical development · 2022Review
- Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.International journal of neonatal screening · 2022Article
- Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Newborn screening for neurodevelopmental diseases: Are we there yet?American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 14 institutions in 1 country.
Funding
Abstract
In the US, newborn screening (NBS) is a unique health program that supports health equity and screens virtually every baby after birth, and has brought timely treatments to babies since the 1960's. With the decreasing cost of sequencing and the improving methods to interpret genetic data, there is an opportunity to add DNA sequencing as a screening method to facilitate the identification of babies with treatable conditions that cannot be identified in any other scalable way, including highly penetrant genetic neurodevelopmental disorders (NDD). However, the lack of effective dietary or drug-based treatments has made it nearly impossible to consider NDDs in the current NBS framework, yet it is anticipated that any treatment will be maximally effective if started early. Hence there is a critical need for large scale pilot studies to assess if and how NDDs can be effectively screened at birth, if parents desire that information, and what impact early diagnosis may have. Here we attempt to provide an overview of the recent advances in NDD treatments, explore the possible framework of setting up a pilot study to genetically screen for NDDs, highlight key technical, practical, and ethical considerations and challenges, and examine the policy and health system implications.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.