What Mothers Know about Newborn Bloodspot Screening and the Sources They Use to Acquire This Knowledge: A Pilot Study in Flanders

Article Genetics & Heredity

Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion

Julia Pinel et al.

Summary: Neonatal screening in France has high coverage, but there are concerns about informed consent based on foreign literature. The DENICE study in Brittany aimed to assess if the information provided to families allows for informed consent. Qualitative interviews with parents whose children had positive screening results revealed a lack of knowledge and absence of a parent after birth, which weakened informed consent. The study suggests that more information during pregnancy, repeated and accessible, should be provided, and informed consent should be obtained from parents who choose to screen their newborns.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2023)

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Review Genetics & Heredity

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

Birgit Odenwald et al.

Summary: Newborn screening using dried blood spots (NBS) is a successful procedure in preventing severe disability or death, but it can also cause harm. This publication compiles the results of a systematic literature research on the requirements for NBS infrastructure and procedures. It emphasizes the importance of implementing NBS as a well-coordinated public health program with continuous quality management, and highlights the perspectives of parents and families.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2023)

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Article Genetics & Heredity

Mothers' knowledge and attitudes about newborn screening in Jordan

Abedallah Kasem et al.

Summary: This study investigated the knowledge and attitudes of Jordanian mothers regarding newborn screening. Most mothers had positive attitudes, but their knowledge was only moderate. Healthcare providers were identified as the main source of information for mothers. Enhancing the educative role of healthcare professionals could optimize outcomes in newborn screening.

JOURNAL OF COMMUNITY GENETICS (2022)

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Article Biochemistry & Molecular Biology

Regulatory landscape of providing information on newborn screening to parents across Europe

Vera Frankova et al.

Summary: Newborn screening is crucial for public healthcare systems, and providing information about screening to parents is recognized as an essential part of the process. A survey across Europe showed that most countries have legal frameworks or guidelines for informing parents about screening, although the proportion of countries requiring prenatal information is low.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

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Article Pediatrics

Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

Tessa van Dijk et al.

Summary: Participants expressed a positive attitude towards NBS expansion for treatable disorders and health gain, while voicing concerns about increased uncertainty in results, diagnosing asymptomatic mothers, screening subgroups, and complex consent procedures. Stakeholder perspectives on future NBS expansions were divided into targeted-scope and broad-scope approaches, emphasizing health gain versus broader considerations, such as individual preferences and parental autonomy. Policy-makers are advised to consider both perspectives when making decisions about NBS expansion.

FRONTIERS IN PEDIATRICS (2021)

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Article Genetics & Heredity

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J. Gerard Loeber et al.

Summary: Neonatal screening in Europe has been evolving since the 1960s, with significant progress made between 2010 and 2020 in terms of methodological advancements and expansion of screened conditions. Collaboration within Europe is increasing, which is crucial for timely detection and intervention for newborns with rare diseases.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Genetics & Heredity

Informing Parents about Newborn Screening: A European Comparison Study

Amber IJzebrink et al.

Summary: In Europe, various countries inform parents about newborn screening program differently, potentially including different knowledge aspects. Most countries include important knowledge aspects in their information products, but there are differences in details and phrasing. Additional relevant knowledge aspects have been identified for optimizing information products.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Genetics & Heredity