Prospective study into submicroscopic chromosomal abnormalities in foetuses with structural malformations on ultrasound
- Conditions
- small DNA defects10016849submicroscopic chromosomal abnormalities of the subtelomeres
- Registration Number
- NL-OMON30792
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 130
Inclusion Criteria
Only if amniocentesis is already planned because of abnormal ultrasonographic findings of the fetus, future parents will be asked for this study.
The MLPA-test will only be performed if the karyotyping is normal.
Exclusion Criteria
Abnormal fetal karyotype that can explain the ultrasonographic anomalies.
Absence of a signed informed consent by both parents.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The overall percentage of submicroscopic chromosomal abnormalities(<br /><br>microdeletions or -duplications) in fetuses with structural malformations and a<br /><br>normal routine karyotyping</p><br>
- Secondary Outcome Measures
Name Time Method <p>1 Percentage of relevant submicroscopic chromosomal abnormalities<br /><br>with known clinical implications versus the percentage of unknown abnormalities<br /><br>with unclear clinical implications in fetuses with structural malformations and<br /><br>normal routine karyotyping?<br /><br>2. Can we ascertain an association between the fetal malformation and the<br /><br>detected submicroscopic chromosomal abnormality? </p><br>