Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

RECRUITING

NCT06147414

Sponsor: Assistance Publique - Hôpitaux de Paris

Summary

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.

Official title: Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Key Details

Gender

FEMALE

Age Range

18 Years - Any

Study Type

OBSERVATIONAL

Enrollment

550

Start Date

2024-10-23

Completion Date

2027-05

Last Updated

2026-01-15

Healthy Volunteers

No

Conditions

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

Interventions

BIOLOGICAL

Blood sample

A blood sample (50 ml) will be taken in care of prenatal diagnosis and 40 ml will be used for study. The 40 mL of blood needed for the research will be collected on BCT tubes (4 tubes). During the study, in centers, the plasma samples will be stored at room temperature and will be sent to the laboratory within 24 hours (no centrifugation in centers). The plasma samples will be then temporarily stored at -80°C in each co-investigating laboratory under the supervision of lab supervisor until the analysis. cfDNA will be extracted from the whole plasma sample before each sequencing run and stored à +4°C until the cfDNA sequencing.

Locations (1)

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

Paris, France

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