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Clinical Trials/DRKS00034555
DRKS00034555
Recruiting
Not Applicable

Parent survey on the benefits and burdens of newborn screening

niversitätsklinikum Heidelberg0 sites330 target enrollmentJuly 25, 2024

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
19 target diseases of newborn screening (NBS) in Germany and 28 additional target diseases of the extended pilot panel as part of the clinical trial NGS 2025 (Heidelberg
Sponsor
niversitätsklinikum Heidelberg
Enrollment
330
Status
Recruiting
Last Updated
last year

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
July 25, 2024
End Date
TBD
Last Updated
last year
Study Type
Observational
Sex
All

Investigators

Sponsor
niversitätsklinikum Heidelberg

Eligibility Criteria

Inclusion Criteria

  • For all groups:
  • \- Consenting parents of a child who underwent timely postnatal newborn screening (NBS) including the NGS 2025 pilot study at the screening center in Heidelberg.
  • \- The child's NBS was performed 3\-6 months before study entry.
  • Additional criteria for the different groups:
  • \- Group 1 (parents of newborns with negative NBS): NBS including NGS 2025 showed no abnormalities.
  • \- Group 2 (parents of newborns with false\-positive NBS): The first result of the NBS was abnormal, raising suspicion of a disease targeted by regular screening or the NGS 2025 pilot panel. The suspected diagnosis was not confirmed by the confirmatory diagnostics (biochemical and/or molecular genetic).
  • \- Group 3 (parents of newborns with true\-positive NBS): The first result of the NBS was abnormal, raising suspicion of a disease targeted by regular screening or the NGS 2025 pilot panel. The suspected diagnosis was confirmed biochemically and/or molecularly.

Exclusion Criteria

  • \- Parents of premature babies \< 37\+0 weeks' gestation
  • \- Parents of newborns with a severe general illness or neonatal complications (e. g. respiratory failure, asphyxia, severe neonatal infection) that required hospitalization immediately postpartum
  • \- Parents of newborns for whom newborn screening had to be repeated due to transfusions
  • \- Parents of newborns in whose family a sibling was already diagnosed with a target disease of the NBS before the child was born (high\-risk NBS).

Outcomes

Primary Outcomes

Not specified

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