Our primary aim is to develop en perfection the diagnostic accuracy of the non-invasive tests for chromosomal aberrations in maternal blood.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The development and perfection of a noninvasive test in maternal blood
detecting chromosomal aberrations.
Secondary outcome
not applicable
Background summary
Since the 1970s, pregnant women are offered prenatal screening or prenatal
diagnostic testing for trisomies. The main aim of diagnostic testing is the
detection of most common chromosomal aberrations.
The invasive tests (amniocentesis and chorion villus sampling) acquire fetal
cells for further chromosomal research. De accuracy is highly reliable with a
sensitivity and specificity of practically 100%. The main disadvantage however
is the invasive nature of the diagnostic tests. Both tests are associated with
a procedure-related fetal loss rate of 0.5-1%.
Recently, new approaches are introduced to analyze free fetal DNA in maternal
blood in a non-invasive way. Published studies show a sensitivity and
specificity of nearly 100%
For the further development of this test blood samples are needed of women with
fetus with a known chromosomal aberration.
Study objective
Our primary aim is to develop en perfection the diagnostic accuracy of the
non-invasive tests for chromosomal aberrations in maternal blood.
Study design
Pregnant women with a fetus with a proven chromosomal aberrations are asked to
donate 2 blood tubes. The biological father is asked to donate either blood or
a buccal or salivary samples.
In total internationally the following samples need to be collected:
* Up to 2,000 maternal blood samples along with their corresponding paternal
blood, buccal or saliva samples (1,000 required for final analysis).
* Up to 200 maternal blood samples from carrying a fetus with a confirmed
chromosomal abnormality or genetic disorder, along with their corresponding
paternal blood, buccal or saliva samples (50 required for final analysis). For
women who opted for termination, a genetic sample of the fetus may also be
collected.
* Up to 1,000 buccal or saliva samples from paternal grandfathers and/or the
biological father*s brothers.
* Up to 1,000 cord, buccal or saliva samples from the born children.
* Up to 40 blood samples (20 non-pregnant females and 20 males) from healthy
volunteers (20 required for final analysis)
* Up to 400 blood samples from women undergoing D&C procedure following a
miscarriage along with corresponding paternal blood (or buccal or saliva
samples) (200 required for final analysis).
In the Netherlands the following samples will be collected:
* Up to 100 maternal blood samples from carrying a fetus with a confirmed
chromosomal abnormality or genetic disorder, along with their corresponding 100
paternal blood, buccal or saliva samples. For women who opted for termination,
a genetic sample of the fetus may also be collected.
Study burden and risks
Venous puncture: the amount of blood required for the study will not harm the
participant or the fetus. The buccal or salivary swab will not harm the
participant either.
Albinusdreef 2
2333 ZA Leiden
NL
Albinusdreef 2
2333 ZA Leiden
NL
Listed location countries
Age
Inclusion criteria
Maternal blood samples:
> 18 years of age, informed consent given
diagnosis of abnormal or genetic disorder diagnosed by either amniocentesis or chorionic villus sampling
before (spontanious) abortion;Blood, buccal or saliva collection biological father:
>18 years, informed consent
Exclusion criteria
Maternal blood samples:
After spontanious abortion or dilation and curettage
Design
Recruitment
metc-ldd@lumc.nl
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 | NL39980.058.12 |