TerminatedNot Applicable

Prenatal Molecular Characterisation by CGH+SNP-ARRAY of Supernumerary Marker Chromosomes and de Novo Apparently Balanced Reciprocal Translocations

Stopped: futility

France35 participantsStarted 2013-08-30

Plain-language summary

In the prenatal period, les supernumerary marker chromosomes (SMC) and de novo apparently balanced reciprocal translocations are revealed by foetal karyotyping, which does not always make it possible to determine whether the anomaly is balanced or not and does not reveal uniparental disomy. The presence of these chromosomal rearrangements raises a difficult question for genetic counselling during pregnancy because of the risk of intellectual deficiency in the foetus. CGH+SNP-Array can provide information concerning 1) the balanced or not nature of these translocations 2) the presence or not of euchromatin in the SMC 3) the presence or not of uniparental disomy.

Who can participate

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: * Metaphase karyotyping with SMC or a de novo Apparently-balanced reciprocal translocation * Parents covered by the National Health Insurance Agency, * Consent of the parents Exclusion Criteria: * Persons not covered by the National Health Insurance Agency * Normal foetal karyotyping or showing chromosomal anomalies not related to the present study (trisomy 18….) or inherited anomalies * Absence of a sample from one of the parents

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

supernumerary chromosome markers

Timeframe: baseline

Trial details

NCT IDNCT01907425

SponsorCentre Hospitalier Universitaire Dijon

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2017-05-22

View on ClinicalTrials.gov More Pre-natal Patient trials

Plain-language summary

Who can participate

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.