Parent survey on the benefits and burdens of newborn screening

niversitätsklinikum Heidelberg0 个研究点目标入组 330 人开始时间: 2024年7月25日最近更新: 2024年8月19日

适应症

试验速览

暂无简介。

•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.

•- 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).

发起方

niversitätsklinikum Heidelberg