Objective: The main objective is to investigate if we can isolate fetal DNA less-invasively obtained by endocervical sampling with sufficient quantity and quality for genetic testing (feasibility). The second objective is to establish that DNA of…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1. Establishing a robust laboratory protocol for processing samples.
Secondary outcome
2. Sequential sampling of up to 100 samples, with as stopping criterion that
less than 10 failures are observed in 100 samples. Failures are cases where
less than 300 fetal cells are obtained admixed with no more than 60 maternal
cells.
3. Quality and quantity of DNA for genetic testing using DTECC samples
Background summary
Prenatal genetic testing for genetic birth defects is currently performed on
fetal samples obtained by chorionic villous sampling (CVS) or amniocentesis,
both invasive procedures with a 0.2-0.3% miscarriage risk. This risk may
withhold pregnant women from undergoing this procedure or testing. We have
developed in vitro a less invasive method to collect fetal cells from a
cervical swab. This novel method makes use of the principle that fetal
trophoblast-like cells are naturally shed from the placenta into the
reproductive tract, and consequently can be collected by endocervical sampling
as early as 5 weeks of gestation. Subsequent isolation using
trophoblast-specific immuno-staining and cell sorting is expected to yield
sufficient and pure fetal DNA for genetic testing. However, this technique has
been tested in vitro on cell lines only. The aim of the proposed study is to
establish that sufficiently fetal DNA can be obtained with high reliability
after endocervical sampling.
Study objective
Objective: The main objective is to investigate if we can isolate fetal DNA
less-invasively obtained by endocervical sampling with sufficient quantity and
quality for genetic testing (feasibility). The second objective is to establish
that DNA of sufficient quality is obtained in at least 90% of the sampling.
Study design
Two phase study, the first phase carried out with up to 30 samples to optimize
the protocol and a second phase with 100 samples to establish that DNA of
sufficient quality is obtained in at least 90% of the sampling. A failure rate
of up to 10% is less than we envision to achieve, but would already be an
important step in reducing more invasive sampling techniques.
Study burden and risks
The burden consists of undergoing endocervical sampling directly before CVS or
amniocentesis. CVS is always performed transvaginal so the additional burden of
sampling is minimal. The additional risk is harmless self-limited vaginal
spotting. No significant increased risk of fetal demise nor any trend in that
direction have been observed in previous studies. Fetal loss will be monitored
as described in the guidelines from the NVOG
(https://www.nvog.nl/wp-content/uploads/2018/02/Nota-Invasieve-Prenatale-Diagnos
tiek-1.0-01-06-2017.pdf).
Ant Deusinglaan 1
Groningen 9713 AV
NL
Ant Deusinglaan 1
Groningen 9713 AV
NL
Listed location countries
Inclusion criteria
1) 18 years old or above.
2) Have an indication for CVS sampling or amniocentesis.
3) Pregnant with a gestational age between 10 and 22 weeks.
4) Signed written informed consent
Exclusion criteria
1) minder dan 24 uur de tijd tussen de momenten van het verkrijgen van de
studie informatie en de CVS of vruchtwaterpunctie
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 | NL79181.042.22 |