Parent survey on the benefits and burdens of newborn screening

Recruiting

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
DRKS00025324).

Registration Number: DRKS00034555

Lead Sponsor: niversitätsklinikum Heidelberg

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 330

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).

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.<br>II. Evaluation of the subjectively perceived burden due to necessary<br>follow-up examinations in families whose child had a false-positive NBS result (study arm 2).

Secondary Outcome Measures