Evaluation of Rapid First-line Genome Sequencing for Prenatal Diagnosis of Congenital Malformations in Comparison With Chromosomal Microarray and Exome Sequencing
- Conditions
- Congenital Malformation
- Registration Number
- NCT06252415
- Lead Sponsor
- Centre Hospitalier Universitaire Dijon
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- Not specified
Inclusion Criteria:<br><br> - Pregnancies (17 - 34 weeks of gestation (WG)) with US anomalies namely either i) two<br> major anomalies, ii) one major and one minor anomalies, or iii) one anomaly (major<br> or minor) with a strong suspicion of genetic cause (such as corpus callosum<br> anomaly);<br><br> - Couples for whom an etiological diagnosis could modify the pregnancy outcome and/or<br> the pre and/or postnatal management;<br><br> - Pregnant women who receive invasive prenatal sampling for ES+CMA;<br><br> - Sufficient quantity of amniotic fluid to collect an additional sample for GS;<br><br> - Possibility of blood samples from the pregnant woman and the biological father;<br><br> - Written consent for genetic analysis from pregnant woman and biological father of<br> foetus;<br><br> - Provision of signed and dated of both parents' consent form for the study.<br><br>For the exploratory qualitative objective/endpoint:<br><br> - A least one member of the couple willing to accept 2 telephone or video<br> consultations, and able to speak and understand French.<br><br>Exclusion Criteria:<br><br> - Refusal of the pregnant woman or biological father to participate in the study; or<br> refusal to collect blood samples from one or both parents;<br><br> - Pregnancy before 17 WG or after 34 WG (to limit the risk of reporting results after<br> birth);<br><br> - Isolated increase nuchal translucency on ultrasound;<br><br> - Couples for whom an etiological diagnosis would not modify the pregnancy outcome;<br><br> - Pregnant woman and biological father not affiliated to a social security system or<br> not beneficiaries of such a system;<br><br> - Pregnant woman and/or biological father who are protected and unable to understand<br> the protocol and express their consent;<br><br> - Pregnant women and/or biological fathers under legal protection (guardianship,<br> tutorship) or to a court order<br><br>For the exploratory qualitative objective/endpoint:<br><br> - The two members of the couple unable to carry out two one-hour telephone interviews<br> in French.
Not provided
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method the delay between sampling and the delivery of the results of the rapid GS strategy in less than 7 days;the identification of one or more class 4 or 5 variant(s) that explain the ultrasound manifestations, and validated during a specific MultiDisciplanary Meeting (MDM)
- Secondary Outcome Measures
Name Time Method