- at risk of another SGD
- at risk of SGD involving a de novo pathogenic mutation in a previous child
- woman under legal protection
DANNIgene-Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Recruiting
This project aims to take advantage of the unique French collaborative network to make single gene disorders-non-invasive prenatal diagnosis(SGD-NIPD)possible for theoretically any single gene disorder and any family.
Pregnant woman undergoing invasive prenatal test (like amniocentesis) because there’s a known family history of a single-gene disorder will be offered this SGD-NIPD (Single-Gene Disorder Non-Invasive Prenatal Diagnosis)
NIPD, which is non-invasive can be offered earlier in pregnancy than invasive testing, from 7 weeks of gestation. The test can look for a specific genetic condition in the baby without needing to sample the baby directly. This can reduce parental anxiety and allows more time for decision-making and planning.
The study will start with the following single-gene disorders :
HBB (sickle cell or thalassemia),
CFTR (cystic fibrosis),
FMR1 (fragile X),
SMN1 (spinal muscular atrophy),
DMPK (myotonic dystrophy),
DMD (Duchenne muscular dystrophy),
NF1 (neurofibromatosis type 1),
F8 and F9 (hemophilia A and B),
GCK (a type of diabetes),
L1CAM (L1 syndrome),
PKHD1 (polycystic kidney disease),
ATP7A (Menkes disease),
including HTT (Huntington disease).
Subtype: Observational Biomarker
Intervention Type: Biological
Primary Intervention: Blood sample
Ages Eligible
for Study:
18 Years and older
(Adult, Older Adult )
Sexes Eligible
for Study:
Female
Accepts Healthy Volunteers:
No
- pregnant woman with 9 weeks of amenorrhea or more
- singleton pregnancy
- undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, ATP7A or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK
- germinal pathogenic paternal and/or maternal mutations previously identified
- age 18 years old or over
- signing an informed consent
LOCATION
FRANCE
TRIAL SITE:
Hospital Cochin Maternite Port-Royal
Address: Paris, France
CONTACT: Juliette NECTOUX, MD,PhD
Phone Number: +33 1 58 41 16 22
Email: juliette.nectoux@aphp.fr
