- 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
The present 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.
NIPD can be offered earlier in pregnancy than invasive testing, from 7 weeks of gestation. This can reduce parental anxiety and allows more time for decision-making and planning
SGD-NIPD will be proposed by Multidisciplinary Centers for Prenatal Diagnosis to pregnant women undergoing invasive prenatal diagnosis in a context of family history of single-gene disorders because of parental pathogenic mutation.s in one of the following gene: HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, , F8, F9, GCK, L1CAM, PKHD1 or ATP7A. Including Huntington gene(HTT)
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
LOCATIONS
FRANCE
Recruiting
TRIAL SITE:
Hospital Cochin Maternite Port-Royal
Address: Paris, France
CONTACTJuliette NECTOUX, MD,PhD
Phone Number: +33 1 58 41 16 22
Email: juliette.nectoux@aphp.fr