Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial

Study Overview
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Brief Summary
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This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood.

Detailed Description
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First trimester screening is the current standard of care for pregnant women in the United States. Women with a high screening risk for trisomy then have invasive testing, which carries a risk of miscarriage, to definitively determine if the fetus has trisomy. Because of the high false negative rate of the first trimester screening, an unacceptable number of trisomic fetuses are not detected. Moreover, because of the high false positive rate, an unacceptable number of women undergo invasive follow up testing. Additional screening tests are needed that combine a high sensitivity, a low false positive rate, and minimal or no risk to the fetus.

Official Title
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Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)

Conditions
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Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy

Intervention / Treatment
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* Procedure: Blood Draw


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Singleton pregnancy Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical estimate Mother has a high or moderate risk for trisomy Mother is planning to have or has had an amniocentesis or chorionic villus sampling (CVS) procedure Exclusion Criteria: Unavailability of the father to provide a genetic sample (e.g. sperm donor, non-paternity) Egg donor used Mother or father have known chromosomal abnormalities (including known balanced translocations) Participation in the study in a previous pregnancy Pregnancy is a result of IVF with pre-implantation genetic diagnosis
Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

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 Blood Draw<br>Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw | Procedure: Blood Draw<br>* Blood will be drawn from the mother and father<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y. | The primary objective is to determine the diagnostic capability of the test to detect autosomal aneuploidy (chromosomes 13, 18, 21) and sex aneuploidy (X and Y). | Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS). | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Aneuploidy, Non-invasive Prenatal Diagnosis, Prenatal Blood Test, Prenatal Aneuploidy Screening, Trisomy 13, Trisomy 18, Trisomy 21, Trisomy, Down Syndrome, Turner Syndrome, Edwards Syndrome