Genetic Diseases, Inborn Clinical Trial
— EPESOfficial title:
Evaluating Prenatal Exome Sequencing Study
Verified date | October 2023 |
Source | Leiden University Medical Center |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.
Status | Enrolling by invitation |
Enrollment | 1000 |
Est. completion date | April 1, 2025 |
Est. primary completion date | October 1, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility | Inclusion Criteria: - At least one fetal anomaly detected in the current pregnancy, irrespective of gestational age; - Pregnancy ongoing; - Mother at least 18 years old and providing consent for pES; - If father is available: father at least 18 years old and providing consent for pES. Exclusion Criteria: There are no exclusion criteria. |
Country | Name | City | State |
---|---|---|---|
Netherlands | Leiden University Medical Centre | Leiden | Zuid-Holland |
Lead Sponsor | Collaborator |
---|---|
Leiden University Medical Center |
Netherlands,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Number of identified new disease genes | 2 years | ||
Primary | Percentage of definitive diagnoses, probable diagnoses and incidental findings (IF) | 2 years | ||
Secondary | Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires. | We will use validated scales such as the State Trait Anxiety Inventory-6, the Decisional Conflict Scale, the Decisional Regret Scale, the Intolerance of Uncertainty Scale, the Impact of Event Scale and the Pre- and Postnatal Bonding Scale. | 2 years | |
Secondary | Clinical impact of prenatal exome sequencing (pES) | Clinical impact will be defined as medical or surgical in utero intervention, pregnancy termination, location and mode of delivery, decisions on comfort care and neonatal policy influenced by the results of pES. | 2 years | |
Secondary | Impact of different analysis strategies on the distribution of the various outcomes of pES (definitive diagnosis, probable diagnosis and incidental findings) | pES data of all included pregnancies will be retrieved and re-analyzed to minimize differences in variant interpretation and to determine the impact of different analysis strategies on the percentages of various outcomes of pES (definitive diagnoses, probable diagnoses and incidental findings). Different analysis strategies will be employed: analysis of an HPO-based gene panel, analysis of an established gene panel of genes causing multiple congenital anomalies and/or intellectual disability, and analysis of all genes. | 2 years |
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