Pregnant Women
Conditions
Keywords
Trophoblast cells, Endocervical canal, Fluorescent in situ hybridization (FISH), Non-invasive prenatal test, Fetal gender
Brief summary
Demonstrate the efficacy of an ultra-early, non-invasive prenatal diagnostic method adaptable to various genetic indications to detect fetal chromosomal abnormalities.
Detailed description
During pregnancy, biological screening for genetic diseases of the fetus cannot be implemented before the 11th week of amenorrhea whatever the technique used. This delay is long and distressing, particularly for people at high risk of transmission of genetic diseases. The presence of extravillous trophoblast cells to the cervix of the pregnant woman from the 7th week, accessible by a cervicovaginal smear non-invasive, represents new biological material representative of the fetal genome. This project aimed at evaluating the performance of a method for analyzing these trophoblast cells extra-villous at the start of pregnancy. The investigators want to evaluate performance analytical aspects of this method, that is to say, verifying that the genetic information resulting from these cells correspond to those of the fetus.
Interventions
PROCEDUREInclusion (Visit 1 - Week 7-16)
Extraction of cervico-vaginal sampling
DIAGNOSTIC_TESTSecond semester of pregnancy (Visit 2 - Week 20-24)
Ultrasound examination (determination of chromosomal sex)
DIAGNOSTIC_TESTThird semester of pregnancy (Visit 3- Week 34)
Ultrasound examination (determination of chromosomal sex) if this has not be done during the Visit 2 or if a new determination correcting the previous one is provided.
Sponsors
University Hospital, Montpellier
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Pregnant woman * Singleton pregnancy * Pregnancy between 7 and 16 weeks of amenorrhea (WA) * Woman ≥ 18 years * Woman who has signed an informed consent * Woman affiliated to social security or equivalent scheme Exclusions Criteria: * Person under guardianship or curatorship * Person placed under legal protection * Person unable to provide the participant with informed consent.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Establish an ultra-early detection method | Visit 2 (Week 20-24) | Collect fetal phenotypic data obtained during the second or the 3rd trimester via ultrasound echography |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate the ability of the method to provide a result in the context of a progressive pregnancy | Visit 2 (Week 20-24) | * Time (minutes) elapsed between sampling and biological validation of the result * Number of trophoblast cells identified * Failure rate: number of samples for which biological signals were not successful to determine the fetal chromosomal sex |
| Expected benefit of ultra-early cytogenetic information | Visit 2 (Week 20-24) | Evaluate the ability of the method to provide a rapid result and evaluate the impact of information about pregnant women |
Countries
France
Contacts
CONTACTVincent GATINOIS, MD
PRINCIPAL_INVESTIGATORVincent GATINOIS, MD
University Hospital, Montpellier
Outcome results
None listed