SynthesisEuropean journal of human genetics : EJHG2010
Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.
Synthesis in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.European journal of human genetics : EJHG · 2016Pooled it
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?European journal of human genetics : EJHG · 2023Article
- Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2023Review
- The perception of parents with a child with sickle cell disease in Ghana towards prenatal diagnosis.Journal of community genetics · 2022Article
- Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.Journal of community genetics · 2021Article
- Next-Generation Sequencing in Newborn Screening: A Review of Current State.Frontiers in genetics · 2021Review
- Primary care provider perspectives on using genomic sequencing in the care of healthy children.European journal of human genetics : EJHG · 2020Article
- Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective.International journal of neonatal screening · 2020Review
- A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Policy Making in Newborn Screening Needs a Structured and Transparent Approach.Frontiers in public health · 2017Review
- Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.European journal of human genetics : EJHG · 2016Article
- Biobank participant support of newborn screening for disorders with variable treatment and intervention options.Journal of community genetics · 2016Article
- Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Journal of genetic counseling · 2016Article
- Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.European journal of human genetics : EJHG · 2015Article
- Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.American journal of human genetics · 2015Review
- Expectations and values about expanded newborn screening: a public engagement study.Health expectations : an international journal of public participation in health care and health policy · 2015Article
- Public views on participating in newborn screening using genome sequencing.European journal of human genetics : EJHG · 2014Article
- Newborn screening for pompe disease? a qualitative study exploring professional views.BMC pediatrics · 2014Article
- Sickle cell disease in areas of immigration of high-risk populations: a low cost and reproducible method of screening in northern Italy.Blood transfusion = Trasfusione del sangue · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
The expansion of newborn screening (NBS) has been accompanied by debate about what benefits should be achieved and the role of parental discretion in their pursuit. The opportunity to inform parents of reproductive risks is among the most valued additional benefits gained through NBS, and assumes prominence where the primary goal of identifying a treatable condition is not assured. We reviewed 53 unique guidelines addressing prenatal, preconception and newborn screening to examine: (1) how generating reproductive risk information is construed as a benefit of screening; and (2) what conditions support the realization of this benefit. Most preconception and prenatal guidelines - where generating reproductive risk information is described as a primary benefit - required that individuals be given a 'cascade of choices', ensuring that each step in the decision-making process was well informed, from deciding to pursue information about reproductive risks to deciding how to manage them. With the exception of three guidelines, NBS policy infrequently attended to the potential for reproductive benefits; further, most guidelines that acknowledged such benefits construed voluntarism narrowly, without attention to the choices attendant on receiving reproductive risk information. This review suggests that prenatal and preconception guidance identifies a coherent framework to support the pursuit of reproductive benefits through population screening programmes. Interestingly, attention to reproductive benefits is increasing among NBS guidance, yet reflection on how such benefits ought to be pursued remains limited. Traditional norms for NBS may require reconsideration where the remit of screening exceeds the primary goal of clinical benefits for infants.
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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.