Dataset Information

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

ABSTRACT:

Purpose

Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creating a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions.

Methods

A process was developed that informed the future parents about the project and collected their consent during a face-to-face discussion with a trained investigator. The first baby was screened on 1 September 2022. The main objective of the study was to test the feasibility and the acceptability of targeted sequencing at birth as a first-tier newborn screening approach to detect treatable genetic conditions or genetic conditions for which a pre-symptomatic or early symptomatic clinical trial is available.

Results

As of 20 June 2024, the parents of 4425 children had been offered the test; 4005 accepted (90.5%) and 420 refused (9.5%). The main reasons for refusal were the research nature of the project and the misunderstanding of what constitutes genetic conditions.

Conclusions

These data demonstrate the high acceptability of genomic newborn screening in a properly informed population.

SUBMITTER: Dangouloff T

PROVIDER: S-EPMC11353025 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature

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Publications

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

Dangouloff Tamara T Hovhannesyan Kristine K Mashhadizadeh Davood D Minner Frederic F Mni Myriam M Helou Laura L Piazzon Flavia F Palmeira Leonor L Boemer François F Servais Laurent L

Children (Basel, Switzerland) 20240730 8

<h4>Purpose</h4>Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creating a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions.<h4>Methods</h4>A process was developed that informed the future parents about the project and collected their consent ...[more]

PMID: 39201861

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Project description:BackgroundStrategic action plans around newborn health evaluation are needed, to address the high neonatal mortality rate in Nepal. Surveillance systems, like Newborn Metabolic Screening (NBS), could reveal unrecognized drivers of neonatal death. NBS is not routinely performed in Nepal. Our objective was to determine the feasibility of establishing NBS, and its acceptability among healthcare providers and parents, in Nepal.MethodsThis prospective cohort study was conducted between November 2021 and May 2022 in term/late preterm infants born at Paropakar Maternity Hospital, Kathmandu, screening for 6 disorders that can be confirmed and managed locally. Staff were trained on dried-blood spot collection and transport protocols, performance metrics were established, and assays were performed at an accredited laboratory in Bangalore, India. Surveys were developed to determine acceptability among health-care providers and parents.ResultsOf 835 parents approached for the study, 825 (98.8%) consented. Parental surveys showed that 92% considered "no cost" option most important in choosing to participate in the study. Samples were transported to laboratories in Kathmandu and Bangalore in 36 ± 24 h, and 4.75 ± 1 days, which exceeded expected metrics of 24 and 48 h, respectively. Results were communicated to parents by 9.5 ± 2 days, which was within the expected metric window of 14 days. Abnormalities were reported in 13 infants and included 5 hemoglobinopathy traits (4 Hb E and 1 Hb D), 3 congenital hypothyroidism, 2 glucose-6-phosphate dehydrogenase deficiency, 1 congenital adrenal hyperplasia, 1 elevated acylcarnitine, and 1 biotinidase deficiency. Healthcare providers surveyed (n = 116) showed that 67% reported a moderate understanding of NBS; all indicated that screening would be beneficial. Most cited early diagnosis and treatment, as well as, providing risk to future pregnancies as significant benefits. 90% thought screening should be routinely performed.ConclusionsWe demonstrate that it is feasible to introduce NBS in Nepal. Transport metrics were longer than expected due to COVID pandemic travel restrictions; however, it was possible to deliver results to families within 2 weeks of birth. Parents overwhelmingly considered "no cost" option as the most important in choosing to screen. A government-sponsored program will be a key factor in establishing NBS in Nepal.

Project description:BackgroundMaternity waiting homes (MHWs) are recommended to help bridge the geographical gap to accessing maternity services. This study aimed to provide an analysis of stakeholders' perspectives (women, families, communities and health workers) on the acceptability and feasibility of MWHs.MethodsA qualitative evidence synthesis was conducted. Studies that were published between January 1990 and July 2020, containing qualitative data on the perspectives of the stakeholder groups were included. A combination of inductive and deductive coding and thematic synthesis was used to capture the main perspectives in a thematic framework.ResultsOut of 4,532 papers that were found in the initial search, a total of 38 studies were included for the thematic analysis. Six themes emerged: (1) individual factors, such as perceived benefits, awareness and knowledge of the MWH; (2) interpersonal factors and domestic responsibilities, such as household and childcare responsibilities, decision-making processes and social support; (3) MWH characteristics, such as basic services and food provision, state of MWH infrastructure; (4) financial and geographical accessibility, such as transport availability, costs for MWH attendance and loss of income opportunity; (5) perceived quality of care in the MWH and the adjacent health facility, including regular check-ups by health workers and respectful care; and (6) Organization and advocacy, for example funding, community engagement, governmental involvement. The decision-making process of women and their families for using an MWH involves balancing out the gains and losses, associated with all six themes.ConclusionThis systematic synthesis of qualitative literature provides in-depth insights of interrelating factors that influence acceptability and feasibility of MWHs according to different stakeholders. The findings highlight the potential of MWHs as important links in the maternal and neonatal health (MNH) care delivery system. The complexity and scope of these determinants of utilization underlines the need for MWH implementation strategy to be guided by context. Better documentation of MWH implementation, is needed to understand which type of MWH is most effective in which setting, and to ensure that those who most need the MWH will use it and receive quality services. These results can be of interest for stakeholders, implementers of health interventions, and governmental parties that are responsible for MNH policy development to implement acceptable and feasible MWHs that provide the greatest benefits for its users. Trial registration Systematic review registration number: PROSPERO 2020, CRD42020192219.

Dataset Information

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

Purpose

Methods

Results

Conclusions

Publications

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

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