A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DIJON · Mar 10, 2025

Keywords

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Eligibility criteria

• Inclusion Criteria:
• For satisfaction study about the information \& identification of determinants of acceptability :
• Inclusion criteria for parents/legal guardians :
• • All future parents approached for whom the unborn child will be cared for in the participating maternity unit
• • At least one parent/legal guardian who physically received information about the study
• • Future parents/legal guardian who do not object to the use of their data
• • Parent(s) or legal guardian(s) affiliated to a social security system or beneficiaries of such a system
• For pGS-NBS :
• Inclusion criteria for newborn :
• • All babies born in one of the participating centers
• • Newborn who are less than 28 days at the date of the collection of PGC1 blotting paper
• • Inclusion criteria for parents/legal guardians
• • At least one biological parent who physically received information about the study
• • Parent(s) or legal guardian(s) who do not object to "conventional" NBS
• • At least one parent/legal guardian able to provide consent for testing the infant
• • Informed consent signed by at least one parent/legal guardian
• • Agreement of the second parent/legal guardian for testing the infant (unless he is unknown or loss of contact) obtained from the first parent/legal guardian if his written informed consent has not been obtained
• • Parent(s) or legal guardian(s) affiliated to a social security system or beneficiaries of such a system
• Exclusion Criteria:
• Non inclusion criteria for satisfaction studies and pGS-NBS :
• Non-inclusion criteria for parents/legal guardians :
• • - Parent(s) or legal guardian(s) under legal protection (guardianship, tutorship) or to a court order