Fetal Growth Retardation
Conditions
Keywords
Non Invasive Prenatal Testing, cell- free DNA, trisomy, placenta confined mosaic
Brief summary
The objective of this project is the non-invasive prenatal detection of placenta-limited aneuploidies, in patients whose fetuses have a intrauterine growth restriction below 3rd percentile, in parallel with an amniocentesis. This study will allow the chromosomal study of the placenta in pregnant women whose genetic prenatal diagnosis, made by amniocentesis, does not allow exploring the placental causes of fetal RCIU.
Detailed description
Placental chromosomal aneuploidies will be detected by high-throughput whole genome sequencing of non-cellular DNA present in maternal plasma during pregnancy. The study of the cfDNA will be carried out from a blood sample with the automated solution VERISEQ NIPT (Illumina) using the software illumina VeriSeq v2, allowing the detection of all chromosomal abnormalities.
Interventions
BIOLOGICALBlood samples
Performed a 10 ml blood sample in each of the 200 patients included.
Sponsors
University Hospital, Bordeaux
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Inclusion criteria
* over 18 years old, * treated in the DDIANE fetal medicine centre at the Bordeaux University Hospital, * having a fetus with IUGR diagnosis below the 3rd percentile (after reference medical ultrasound), * from 16 weeks of amenorrhea or more, * accepting an Invasive Prenatal Diagnosis by amniocentesis with array comparative genomic hybridization
Exclusion criteria
Childbearing women who: * do not accept a non-invasive prenatal diagnosis (amniocentesis) * have a fetus with non-isolated IUGR (associated with other ultrasound signs) * do not consent to participate in the research protocol
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Determine the presence or absence of chromosomal abnormality in the plasma sample. studied. | Inclusion date | The result will be expressed in presence or absence of chromosomal abnormality such as trisomy, monosomy, deletion or duplication. The result will be compared with the fetal chromosome analysis carried out concomitantly on liquid amniotic as part of the treatment: if the analysis on Liquid Amniotic shows the same anomaly, it means that it is a fetal abnormality, if the Liquid Amniotic test is normal, it means that it is most likely an abnormality placental chromosome. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Determine the proportion of chromosomal placental etiology in Intrauterine Growth Restriction. | Inclusion date | Proportion will be described in terms of percentage counts and 95% confidence interval depending on the test Fisher's exact (p \<0.05) |
Countries
France
Contacts
Primary ContactCaroline THAMBO
Backup ContactVirginie RACLET
Outcome results
None listed