Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial

Terminated

• Conditions: Trisomy 18; Trisomy 13; Trisomy 21; Aneuploidy
• Interventions: Procedure: Blood Draw

• Registration Number: NCT01545674
• Lead Sponsor: Natera, Inc.

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.

Study Timeline

• Study Start: 2012-01
• Study First Submitted: 2012-03-01
• Study First Submitted QC: 2012-03-06
• Study First Posted: 2012-03-07
• Primary Completion: 2014-04
• Status Verified: 2023-03
• Study Completion: 2023-03
• Last Update Submitted: 2023-03-21
• Last Update Posted: 2023-03-23

Recruitment & Eligibility

• Status: TERMINATED
• Sex: Female
• Target Recruitment: 937

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Pregnant Women Blood Draw	Blood Draw	Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw

Primary Outcome Measures

Name	Time	Method
Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.	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).

Trial Locations

Locations (29)

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States

New York University; 🇺🇸 New York, New York, United States

Adventist Hinsdale Hospital; 🇺🇸 Hinsdale, Illinois, United States

Cedars-Sinai Medical Center; 🇺🇸 Los Angeles, California, United States

Yale University; 🇺🇸 New Haven, Connecticut, United States

Tufts Medical Center; 🇺🇸 Boston, Massachusetts, United States

Stanford University; 🇺🇸 Stanford, California, United States

NY Methodist Hospital; 🇺🇸 Brooklyn, New York, United States

Carnegie Imaging for Women; 🇺🇸 New York, New York, United States

Madonna Perinatal; 🇺🇸 Mineola, New York, United States

The Mount Sinai Hospital; 🇺🇸 New York, New York, United States

Columbia University; 🇺🇸 New York, New York, United States

Institut Universitari Dexeus; 🇪🇸 Barcelona, Spain

University of North Carolina; 🇺🇸 Chapel Hill, North Carolina, United States

Carolinas Medical Center; 🇺🇸 Charlotte, North Carolina, United States

University of Wisconsin; 🇺🇸 Madison, Wisconsin, United States

Mt Sinai Hospital; 🇨🇦 Toronto, Canada

Lehigh Valley Hospital; 🇺🇸 Allentown, Pennsylvania, United States

University of South Carolina; 🇺🇸 Columbia, South Carolina, United States

University of Texas Medical Branch; 🇺🇸 Galveston, Texas, United States

Hamchoon Women's Clinic; 🇰🇷 Seoul, Korea, Republic of

University of Perugia; 🇮🇹 Perugia, Italy

Royal College of Surgeons in Ireland; 🇮🇪 Dublin, Ireland

University of Alabama; 🇺🇸 Birmingham, Alabama, United States

California Pacific Medical Center; 🇺🇸 San Francisco, California, United States

University of Miami; 🇺🇸 Miami, Florida, United States

Indiana University; 🇺🇸 Indianapolis, Indiana, United States

Oregon Health and Science University; 🇺🇸 Portland, Oregon, United States

Montefiore Medical Center; 🇺🇸 New York, New York, United States