Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Nov 24, 2023

Keywords

ClinConnect Summary

This clinical trial is studying a new way to check for certain inherited genetic disorders in unborn babies without the need for invasive procedures like amniocentesis. The researchers are focusing on a method called non-invasive prenatal diagnosis (NIPD), which analyzes small pieces of fetal DNA found in the mother's blood. This test can be done as early as nine weeks into the pregnancy and aims to provide a safe and accurate way to diagnose single-gene disorders, such as sickle cell disease and cystic fibrosis, without the risks associated with traditional testing methods.

To participate in the trial, pregnant women who are at least 18 years old and have been pregnant for at least nine weeks may be eligible, especially if they have a family history of specific genetic disorders. Participants will need to provide consent and may undergo some additional testing. The goal of this trial is to make this advanced genetic testing available to more families and to improve the accuracy of prenatal diagnoses for various genetic conditions, which can help in making informed decisions during pregnancy.

Gender

FEMALE

Eligibility criteria

• Inclusion Criteria:
• • 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
• Exclusion Criteria:
• • at risk of another SGD
• • at risk of SGD involving a de novo pathogenic mutation in a previous child
• • woman under legal protection