Evaluating Prenatal Exome Sequencing Study
Recruiting
- Conditions
- Congenital anomaliesultrasound findings1002766410016849
- Registration Number
- NL-OMON54303
- Lead Sponsor
- eids Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
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>