Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial

Aneuploidy Clinical Trial

— PreNATUS  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01545674
• Other study ID #: GSN012B
• Secondary ID: 1R44HD062114
• Status: Terminated
• Start date: January 2012
• Est. completion date: March 2023

Study information

• Verified date: March 2023
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 937
• Est. completion date: March 2023
• Est. primary completion date: April 2014
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Aneuploidy
• Down Syndrome
• Trisomy 13
• Trisomy 18
• Trisomy 21

Intervention

Procedure:
• Blood Draw
Blood will be drawn from the mother and father

Locations

Country	Name	City	State
Canada	Mt Sinai Hospital	Toronto
Ireland	Royal College of Surgeons in Ireland	Dublin
Italy	University of Perugia	Perugia
Korea, Republic of	Hamchoon Women's Clinic	Seoul
Spain	Institut Universitari Dexeus	Barcelona
United States	Lehigh Valley Hospital	Allentown	Pennsylvania
United States	University of Alabama	Birmingham	Alabama
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	Tufts Medical Center	Boston	Massachusetts
United States	NY Methodist Hospital	Brooklyn	New York
United States	University of North Carolina	Chapel Hill	North Carolina
United States	Carolinas Medical Center	Charlotte	North Carolina
United States	University of South Carolina	Columbia	South Carolina
United States	University of Texas Medical Branch	Galveston	Texas
United States	Adventist Hinsdale Hospital	Hinsdale	Illinois
United States	Indiana University	Indianapolis	Indiana
United States	Cedars-Sinai Medical Center	Los Angeles	California
United States	University of Wisconsin	Madison	Wisconsin
United States	University of Miami	Miami	Florida
United States	Madonna Perinatal	Mineola	New York
United States	Yale University	New Haven	Connecticut
United States	Carnegie Imaging for Women	New York	New York
United States	Columbia University	New York	New York
United States	Montefiore Medical Center	New York	New York
United States	New York University	New York	New York
United States	The Mount Sinai Hospital	New York	New York
United States	Oregon Health and Science University	Portland	Oregon
United States	California Pacific Medical Center	San Francisco	California
United States	Stanford University	Stanford	California

Sponsors (4)

Lead Sponsor	Collaborator
Natera, Inc.	Columbia University, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), George Washington University

Countries where clinical trial is conducted

United States,  Canada,  Ireland,  Italy,  Korea, Republic of,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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).