Development of Non-Invasive Prenatal Diagnosis for Single Ge...

About this study

Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.

Condition: Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome, Proximal Spinal Muscular Atrophy, Myotonic Dystrophy, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Neurofibromatosis-Noonan Syndrome, Huntington Disease, Hemophilia A, Hemophilia B, MODY2 Diabetes, X-Linked Hydrocephalus, Autosomal Recessive Polycystic Kidney Disease
Tested: Blood sample
Sponsor: Assistance Publique - Hôpitaux de Paris

Who can join

Age: 18 years and older
Sex: Female only
Healthy volunteers: Not accepted

Inclusion 9

Minimum age: 18 years
Eligible sex: Female
Study condition: Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome, Proximal Spinal Muscular Atrophy, Myotonic Dystrophy, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Neurofibromatosis-Noonan Syndrome, Huntington Disease, Hemophilia A, Hemophilia B, MODY2 Diabetes, X-Linked Hydrocephalus, Autosomal Recessive Polycystic Kidney Disease
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, 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 2

at risk of SGD involving a de novo pathogenic mutation in a previous child
woman under legal protection

Where

1 site, 1 recruiting

Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique

Paris, France

Recruiting

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