Validation of a noninvasive prenatal diagnosis method for genetic conditions
Identifai Genetics Analytical Validation Study
This study is testing a new, safer blood test for pregnant women to see if it can find genetic conditions in their babies without the risks of current methods.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 100 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | Identifai Genetics Industry-sponsored |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT06239077 on ClinicalTrials.gov |
What this trial studies
This study aims to validate a noninvasive prenatal diagnostic procedure that analyzes fetal genetic material found in the mother's blood to detect genetic conditions in the developing fetus. Current methods like amniocentesis and chorionic villus sampling carry risks of miscarriage, making a safer alternative desirable. The study will utilize cell-free fetal DNA (cffDNA) to identify if a fetus is affected by genetic conditions that parents are carriers for, as well as other genetic changes. By improving the detection of genetic disorders, this research could enhance prenatal care and patient outcomes.
Who should consider this trial
Good fit: Ideal candidates include pregnant individuals aged 18 or older with a singleton pregnancy who are carriers of different known pathogenic genetic variants.
Not a fit: Patients with multiple gestations or those not carrying known pathogenic variants may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a safer method for prenatal diagnosis of a wider range of genetic disorders without the risks associated with invasive procedures.
How similar studies have performed: Previous studies have shown promise in using cffDNA for prenatal diagnosis, but this approach aims to expand the range of detectable genetic conditions, making it a novel endeavor.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: General: * Parental age≥18 * Singleton pregnancy * Willingness and ability to provide informed consent to participate in study * Patient having a diagnostic procedure (CVS, amniocentesis, cordocentesis) or delivering on site (obtain cord blood/cord segment) Main Study: * Gestational age: 10-23 weeks * Parents are both carriers of different known pathogenic SNVs or short indels (\<=5bp) in the same gene (compound heterozygosity). Substudy: * Gestational age ≥10 weeks * Either parent or both carry a known structural variant and/or other chromosomal anomalies AND/OR Ultrasound highly suggestive of an underlying genetic aberration (e.g., cardiac outlet and 22q) Exclusion Criteria: * Any Multiple gestation is excluded (MCDA, DCDA, triplets, etc)
Where this trial is running
New York, New York
- Columbia University Irving Medical Center — New York, New York, United States (Recruiting)
Study contacts
- Study coordinator: Gilad Magnazi, MEng, MBA
- Email: giladm@identifai-genetics.com
- Phone: +972547627177
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.