Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Launched by IDENTIFAI GENETICS · Jan 31, 2024

Keywords

ClinConnect Summary

The Identifai Genetics Analytic Validity Study is investigating a new way to check for genetic conditions in a developing baby using a simple blood test from the mother. This noninvasive prenatal diagnosis aims to analyze tiny pieces of fetal genetic material found in the mother’s blood, which could help identify certain genetic issues early on in the pregnancy.

To participate in this study, mothers must be at least 18 years old, be pregnant with only one baby, and be willing to give their consent. They should also be between 10 to 23 weeks along in their pregnancy and have a partner who is a carrier of specific genetic changes. The study is currently looking for participants who are undergoing certain medical procedures or delivering at the study site. If you join the study, you will have the opportunity to contribute to important research that could improve prenatal genetic testing.

Gender

FEMALE

Eligibility 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)