This trial is active, not recruiting.

Conditions trisomy 13, trisomy 18, trisomy 21, aneuploidy
Treatment blood draw
Sponsor Natera, Inc.
Collaborator Columbia University
Start date January 2012
End date April 2014
Trial size 1000 participants
Trial identifier NCT01545674, 1R44HD062114, GSN012B


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model cohort
Time perspective prospective
Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw
blood draw
Blood will be drawn from the mother and father

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).

Eligibility Criteria

Female participants of any age.

Inclusion Criteria: 1. Singleton pregnancy 2. Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical estimate 3. Mother has a high or moderate risk for trisomy 4. Mother is planning to have or has had an amniocentesis or chorionic villus sampling (CVS) procedure Exclusion Criteria: 1. Unavailability of the father to provide a genetic sample (e.g. sperm donor, non-paternity) 2. Egg donor used 3. Mother or father have known chromosomal abnormalities (including known balanced translocations) 4. Participation in the study in a previous pregnancy 5. Pregnancy is a result of IVF with pre-implantation genetic diagnosis

Additional Information

Official title Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)
Principal investigator Ronald Wapner, MD
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.
Trial information was received from ClinicalTrials.gov and was last updated in September 2016.
Information provided to ClinicalTrials.gov by Natera, Inc..