TerminatedNot Applicable

NIPD of CFTC by WGA Coupled to Mini-exome Sequencing

Stopped: technical difficulties for patients inclusion

France18 participantsStarted 2018-12-19

Plain-language summary

The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * older than 18 years old * pregnant woman between 9 and 34 weeks of gestation * Couple undergoing prenatal diagnosis for a monogenic disease caused by point mutation(s) * Written informed consent was obtained for the study * Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected * Couple molecular diagnosis results for a monogenic disease caused by point mutation(s) MUST BE AVAILABLE. Exclusion criteria: * Couple Genomic DNA are unavailable * Subjects at risk of transmitting the family disease, but not wishing to know their molecular status * Individuals under guardianship by court order

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).

Timeframe: at 36 month

Trial details

NCT IDNCT03743948

SponsorUniversity Hospital, Montpellier

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2019-08-27

View on ClinicalTrials.gov More Monogenic Diseases trials

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.