Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Identifai Genetics Analytical Validation Study

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.

Amniocentesis (drawing fluid from inside the womb) and chorionic villus sampling (removing a very small amount of the developing placenta) are the current "gold standard" for diagnosis of genetic abnormalities in the developing fetus (unborn child) during the pregnancy. However, these procedures have small risks of miscarriage and are normally used for women with known risk factors for a genetic condition in the fetus. Finding a method to detect genetic changes in a fetus without performing a procedure associated with a risk for miscarriage may be helpful for the clinical care of pregnant patients in collaboration with their providers in the future.

It has been demonstrated that cell-free fetal (cff) DNA is present in the mother's bloodstream. This is already used to detect common conditions like Down Syndrome, a condition that all pregnancies are at risk for. The existing cffDNA tests are not currently able to detect if a fetus is a carrier or affected with the conditions parents are commonly screened for using carrier screening and other genomic tests. The study aim to test the use of new genetic techniques on cffDNA that can find if a fetus is affected with condition that one or both parents are carriers for. The study also aim to investigate if these new tools can detect other spontaneous and inherited genetic changes. This will make prenatal detection possible of many more genetic disorders than can currently be done by drawing blood from the mother. The Maternal and Paternal blood samples will be also used for the development of new methods to detect genetic abnormalities in the developing fetus.

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)