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
Conditions
Interventions
Group 1: Parents of newborns with a negative newborn screening (NBS) result.
Study-related measures: one-time completion of a questionnaire on the perception of the benefits and burden of newborn scr
Sponsors
Universitätsklinikum Heidelberg
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion 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
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).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| I. Evaluation of the acceptance of newborn screening (NBS) in families with regard to the subjective burden experienced by families when NBS is performed and the subjective benefit perceived by families when NBS is performed. II. Evaluation of the subjectively perceived burden due to necessary follow-up examinations in families whose child had a false-positive NBS result (study arm 2). | — |
Secondary
| Measure | Time frame |
|---|---|
| Evaluation of the perception of information/informed consent on newborn screening. | — |
Countries
Germany
Contacts
Public ContactElena Schnabel-Besson
Universität Heidelberg, Medizinische Fakultät Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin
Outcome results
None listed