Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Trisomy 13
- Sponsor
- Natera, Inc.
- Enrollment
- 937
- Locations
- 29
- Primary Endpoint
- Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
- Status
- Terminated
- Last Updated
- 3 years ago
Overview
Brief Summary
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
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.
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
Time Frame: Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS).
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).