Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

Launched by INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE, FRANCE · Mar 11, 2022

Keywords

ClinConnect Summary

This clinical trial is studying new methods to look at our chromosomes, which are tiny structures in our cells that carry our genetic information. Researchers want to see if advanced techniques called optical mapping and long read genome sequencing can help detect chromosome problems that may cause issues like infertility, developmental disabilities, or miscarriages. These new methods could potentially provide clearer results than the current standard tests, which sometimes miss important details.

To participate in this trial, individuals who are dealing with infertility or have been diagnosed with intellectual disabilities or physical malformations may be eligible. There are no specific exclusions, but certain situations, like children born under specific health conditions or those with insufficient blood samples, might prevent participation. Participants can expect to provide a blood sample for testing and help researchers understand whether these new techniques can improve chromosome analysis and lead to better diagnosis and treatment options. Your involvement could be significant in advancing the understanding of genetic issues.

Gender

ALL

Eligibility criteria

• • Inclusion Criteria: patient requiring chromosome analysis either in case of infertility or in case of Intellectual deficiency/malformation
• • -
• • Exclusion Criteria: no exclusion criteria but we defined Non-inclusion criteria
• • ID in a context of perinatal suffering (e.g. hypoxia during labor)
• • Children born to non-native French-speaking parents in case of speech/language retardation
• • Obstructive azoospermia
• • Children under 5kg or whenever blood sampling cannot meet the required volume.
• • Missing or wrong blood collection tube
• • Insufficient blood volume
• • Missing or incomplete consent to research (e.g. only one parental consent for a child)