Evaluating Prenatal Exome Sequencing Study

Recruiting

• Conditions: Congenital anomalies; ultrasound findings; 10027664; 10016849

• Registration Number: NL-OMON54303
• Lead Sponsor: eids Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 850

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

There are no exclusion criteria.

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- Percentages of prenatal exome sequencing outcome: definitive diagnoses,<br /><br>probable diagnoses and incidental findings.</p><br>

Secondary Outcome Measures

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