Evaluating Prenatal Exome Sequencing Study

Evaluating Prenatal Exome Sequencing Study - EPES Study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON54303

Enrollment

850

Registered

2022-02-09

Start date

2022-04-01

Completion date

Unknown

Last updated

2026-01-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital anomalies ultrasound findings

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: Pregnant women and their partners with one or more congenital malformation(s) as detected on prenatal ultrasound, who consent to prenatal exome sequencing.

Exclusion criteria

Exclusion criteria: There are no exclusion criteria.

Design outcomes

Primary

Measure	Time frame
- Percentages of prenatal exome sequencing outcome: definitive diagnoses, probable diagnoses and incidental findings.	—

Secondary

Measure	Time frame
- Clinical impact of prenatal exome sequencing including medical or surgical in utero intervention, pregnancy termination, location and mode of delivery, decisions on comfort care and neonatal policy; - Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires; - Influence of different analysis strategies (whole exome versus genepanel) ion pES outcomes (definitive diagnosis, probable diagnosis and incidental findings); - Number of identified new disease genes.	—

Measure

Time frame

- Clinical impact of prenatal exome sequencing including medical or surgical in utero intervention, pregnancy termination, location and mode of delivery, decisions on comfort care and neonatal policy; - Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires; - Influence of different analysis strategies (whole exome versus genepanel) ion pES outcomes (definitive diagnosis, probable diagnosis and incidental findings); - Number of identified new disease genes.

—

Countries

Netherlands

Outcome results