Non-Invasive Screening for Fetal Aneuploidy

Study Overview
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Brief Summary
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The purpose of this study is to detect whole chromosome abnormalities in maternal blood.

Detailed Description
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The purpose of this study is to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y, in the fetus through analysis of cell free and compound sample DNA (cf DNA and cs DNA, respectively) in maternal blood. In addition, major deletions and duplications in chromosomes 1, 4, 5, and 22 will be detected.

Official Title
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A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood.

Conditions
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Down Syndrome, Edwards Syndrome

Intervention / Treatment
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* Other: Maternal Blood Draw


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: • Subject is a pregnant woman 18-54 years of age at 8-22 weeks' gestation inclusive; Subject has additional risk indicators for fetal chromosome aneuploidy, including one or more of the following: Maternal age > 34 years at the estimated date of delivery; Positive serum screening test suggesting fetal aneuploidy; Previous positive noninvasive cfDNA test is acceptable Fetal ultrasound abnormality suggesting fetal chromosomal abnormality; Personal or family history of Down syndrome or other chromosomal aneuploidy. Willing to provide written informed consent Willing to be re-contacted subsequently for additional information and/or testing if necessary. Exclusion Criteria: Subjects will not be entered into this study if they meet the following criteria: Fetal demise at the time of the blood draw; Previous specimen donation under this protocol; Unwilling or lacks the capacity to provide informed consent or to comply with study procedures; Currently under treatment for cancer Any history of autoimmune disease Any pelvic mass Previous history of radiation to pelvis Any history or current evidence of a twin demise at any gestational age.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 54 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pregnant Women<br>Pregnant women who are scheduled to undergo an amniocentesis or chorionic villus sampling (CVS) procedure Intervention: Single Maternal blood draw of 20mL | Other: Maternal Blood Draw<br>* Maternal Blood Draw<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis | A single 20 mL blood sample will be obtained from each subject during the first or second trimester, blind-coded, and transferred to the Sponsor Laboratory for processing to plasma. Subjects electing to undergo an invasive procedure for fetal Karyotyping (defined as standard cytogenetics and/or microarray, FISH, QF-PCR) will have the blood sample obtained prior to the procedure. The performance characteristics (sensitivity, specificity, negative and positive predictive value) of the laboratory developed test to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y will be determined using fetal karyotype on specimens obtained by chorionic villus sampling and/or genetic amniocentesis for those subjects who undergo these diagnostic procedures as part of their standard care as the gold standard. | Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded. |