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Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Recruiting
2 years and younger
All
Phase N/A
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Overview

The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention. Therefore, genetic newborn screening for currently treatable rare diseases (TREAT-panel approach) will be offered to families expecting a baby. Whole genome sequencing (WGS) will be offered as additional diagnostic approach to newborns participating in Screen4Care TREAT-panel approach, if they develop symptoms suggestive of a genetic disease.

To evaluate to what extend genetic newborn screening has an impact on participating infants and their families, a follow-up with standardised questionnaires will be performed for all participating families.

Eligibility

Inclusion Criteria:

  • TREAT-panel:
    • newborns
    • Infants born in one of the participating hospitals and birth centres
    • Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel)
  • Whole genome sequencing:
    • Participation in the TREAT-panel study
    • Symptoms suggestive of a genetic disease within the first 2 years of life
    • Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing

Exclusion Criteria:

  • Missing informed consent of parents/legal guardian

Study details
    Newborn Screening

NCT06549218

University Hospital Freiburg

15 January 2025

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