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Health Economic Evaluation of Non-Invasive Prenatal Exclusion Diagnosis

Recruitingn/aAges 18 Years - anyAllAssistance Publique - Hôpitaux de Paris
NCT07469657 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Since the discovery of a small fraction of circulating cell-free fetal DNA (ccffDNA) in the blood of the mother, non-invasive prenatal diagnosis (NIPD) techniques using a simple blood sample have been developed to 1) screen for chromosomal abnormalities, 2) diagnose fetal sex, and 3) detect variants not carried by the mother (exclusion NIPD by PCR). Exclusion NIPD by PCR is currently available for certain common variants, but developing it for each variant takes 3-6 weeks per center. The development process for PCR NIPD is lengthy and costly for each variant tested, thereby restricting access to this technique. In practice, this technique is not widely available to couples at risk of transmitting a severe monogenic disease in France, due to the large number of different genes and multiple variants of a given gene. Next-generation sequencing (NGS) is based on the simultaneous, parallel

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📋 Eligibility rules (as published)
Inclusion Criteria: * Couple aged over 18 years * Ongoing pregnancy of at least 7 weeks gestational age * Requesting, within clinical care, invasive prenatal diagnosis or PCR-based NIPD for a particularly severe monogenic disorder, with indication confirmed by a Multidisciplinary Prenatal Diagnosis Center (CPDPN) * Eligible for exclusion diagnosis * Causative gene covered by the Agilent V8 exome capture kit * Affiliated with the national general social security system * Informed consent obtained from the pregnant woman and her partner Exclusion Criteria: * Prenatal diagnosis request not approved by a Multidisciplinary Prenatal Diagnosis Center (CPDPN) * Disorder not analyzable by next-generation sequencing (e.g., triplet repeat expansions, sequence homology) * Woman carrying the pathogenic variant * Woman or partner deprived of liberty, under guardianship or curatorship * Index case other than the father, a child, or a fetus from a previous pregnancy within the couple.
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What it tests

  • NIPD by NGS
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Where

1 site
Hôpital Necker Enfants Malades
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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