The aim of this study is to investigate whether it is possible to improve genetic diagnostic testing in case of fetal abnormalities and a normal karyotype. We are interested in the relevance of the additional genetic testing.We wish to study the…
ID
Source
Brief title
Condition
- Foetal complications
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The overall percentage of submicroscopic chromosomal abnormalities(
microdeletions or -duplications) in fetuses with structural malformations and a
normal routine karyotyping
Secondary outcome
1 Percentage of relevant submicroscopic chromosomal abnormalities
with known clinical implications versus the percentage of unknown abnormalities
with unclear clinical implications in fetuses with structural malformations and
normal routine karyotyping?
2. Can we ascertain an association between the fetal malformation and the
detected submicroscopic chromosomal abnormality?
Background summary
When a fetal structural abnormality is detected on ultrasound, amniocentesis or
chorion villus sampling is often performed, in order to confirm or to exclude a
chromosomal abnormality.
Firstly, a chromosomal abnormality could explain the ultrasound findings.
Secondly, a chromosomal abnormality could clarify the prognosis as often,
chromosomal abnormalities are associated with mental retardation.
Only in a limited percentage of these cases, a chromosomal abnormality will be
found with routine karyotyping. Therefore, it is possible that submicroscopic
(microdeletions and - duplications) chromosomal abnormalities are involved that
could explain the malformation(s).
Study objective
The aim of this study is to investigate whether it is possible to improve
genetic diagnostic testing in case of fetal abnormalities and a normal
karyotype. We are interested in the relevance of the additional genetic testing.
We wish to study the presence of submicroscopic (microdeletions and -
duplications) chromosomal abnormalities using Multiplex Ligation Probe
Amplification (MLPA), a molecular technique.
Study design
Prospective non-randomised or blinded study in fetuses with a malformation(s)
on ultrasound for which the patient ahs already decided on karyotyping by
amniocentesis.
In case the result of karyotyping is normal, MLPA will be used to detect
submicroscopic chromosomal deletions of duplications, either at the ends of the
chromosome (the subtelomeres) or elsewhere in the chromosome (interstitial) as
it is known that genetic defects in these regions can cause severe syndromal
abnormalities.
Study burden and risks
For this study, the same amount of amniotic fluid will be needed as for normal
karyotyping (20- 22 cc).
Both parents will be asked to donate 10 cc of blood.
Tk
he risk of venous blood sampling is negligable.
Both parents need to sign an informed consent form as to give their permission
for participation in the study as explained in the patient information letter.
Postbus 9101
6500 HB Nijmegen
Nederland
Postbus 9101
6500 HB Nijmegen
Nederland
Listed location countries
Age
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.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL16106.091.07 |