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Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Description

The purpose of this study is to validate a noninvasive prenatal diagnosis procedure for genetic conditions in the developing fetus by analyzing fetal genetic material present in the pregnant mother's blood.

Conditions

Prenatal DiagnosisGenetics
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Prenatal DiagnosisGenetics

Study Overview

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Study Details

Study overview

The purpose of this study is to validate a noninvasive prenatal diagnosis procedure for genetic conditions in the developing fetus by analyzing fetal genetic material present in the pregnant mother's blood.

Identifai Genetics Analytical Validation Study

Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Condition
Prenatal Diagnosis
Intervention / Treatment

-

Contacts and Locations

New York

Columbia University Irving Medical Center, New York, New York, United States, 10027

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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)
  • * Gestational age: 10-23 weeks
  • * Parents are both carriers of different known pathogenic SNVs or short indels (\<=5bp) in the same gene (compound heterozygosity).
  • * 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)
  • * Any Multiple gestation is excluded (MCDA, DCDA, triplets, etc)

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

FEMALE

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Identifai Genetics,

Study Record Dates

2025-12