Validation of a noninvasive prenatal diagnosis method for genetic conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.