MedPath

Non-invasive Chromosomal Examination of Trisomy Study

Completed
Conditions
Trisomy 21
Registration Number
NCT01511458
Lead Sponsor
Roche Sequencing Solutions
Brief Summary

The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum screening (PAPP-A,free beta-hCG \[β-hCG\] or total hCG) and a nuchal translucency (NT) measurement (i.e. combined first trimester screening) in a general screened population.

The performance characteristics of these two test modalities will be assessed relative to the clinical reference standard of genetic analysis of the fetus or phenotypic characterization and genetic analysis of the newborn.

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
Female
Target Recruitment
18955
Inclusion Criteria
  1. Subject is at least 18 years old and can provide informed consent.
  2. Subject is planning a hospital delivery.
  3. Subject has a singleton pregnancy with a documented gestational age between 10 weeks, 0 days, and 14 weeks, 2 days, inclusive, at the time of the study blood sample collection.
  4. Subject is planning to undergo combined first trimester prenatal screening that includes NT measurement, and when indicated, serum screening with total or free β-hCG and PAPP-A.
Exclusion Criteria
  1. Subject has known aneuploidy.
  2. Subject has active or history of malignancy requiring major surgery and/or systemic chemotherapy.
  3. Subject has a twin demise at any gestational age. Twin demise includes any reductions, spontaneous or elective, after sonographic identification of a second (or more) gestational sac. Any clinical, sonographic, or other testing that suggests twin demise would serve as an exclusion criterion.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Difference in sensitivity and specificity of Ariosa Harmony™ Prenatal Test (AUCt) and combined first-trimester screening for detection of T21.Enrollment to delivery
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (36)

Tucson Medical Center

🇺🇸

Tucson, Arizona, United States

Christiana Care Health System

🇺🇸

Newark, Delaware, United States

Altus Research

🇺🇸

Lake Worth, Florida, United States

Leiden University Medical Center

🇳🇱

Leiden, Netherlands

Perinatal Diagnostic Center

🇺🇸

Riverside, California, United States

East Bay Perinatal Associates

🇺🇸

Oakland, California, United States

Stanford University

🇺🇸

Palo Alto, California, United States

Northshore University Health System

🇺🇸

Evanston, Illinois, United States

Partners in Obstetrics and Gynecology

🇺🇸

Pawtucket, Rhode Island, United States

Early Risk Assessment Program - University of Alberta

🇨🇦

Calgary, Alberta, Canada

Abington Memorial Hospital

🇺🇸

Abington, Pennsylvania, United States

Women's Health Care Group of Pennsylvania

🇺🇸

Wynnewood, Pennsylvania, United States

Karolinska University Hospital

🇸🇪

Stockholm, Sweden

University Hospitals Leuven

🇧🇪

Leuven, Belgium

St. Peters University Medical Center

🇺🇸

New Brunswick, New Jersey, United States

Thomas Jefferson Univeristy Hospital

🇺🇸

Philadelphia, Pennsylvania, United States

The Institute of Prenatal Diagnosis and Reproductive Medicine

🇺🇸

San Gabriel, California, United States

Robert Wood Johnson School of Medicine

🇺🇸

New Brunswick, New Jersey, United States

Fetal Diagnostic Institute of the Pacific

🇺🇸

Honolulu, Hawaii, United States

Columbia University

🇺🇸

New York, New York, United States

Ottawa Hospital and Research Institute

🇨🇦

Ottawa, Ontario, Canada

Mount Sinai University

🇨🇦

Toronto, Ontario, Canada

Maastricht University Medical Center

🇳🇱

Maastricht, Netherlands

University of Perugia

🇮🇹

Perugia, Italy

Sahlgrenska University Medical Center

🇸🇪

Gothenburg, Sweden

University of Toronto

🇨🇦

Toronto, Ontario, Canada

University of California San Diego

🇺🇸

San Diego, California, United States

California Pacific Medical Center

🇺🇸

San Francisco, California, United States

University of California San Francisco

🇺🇸

San Francisco, California, United States

Norton Healthcare

🇺🇸

Louisville, Kentucky, United States

Brigham and Women's Hospital - Center for Fetal Medicine and Prenatal Genetics

🇺🇸

Boston, Massachusetts, United States

Minnesota Perinatal Associates

🇺🇸

Minneapolis, Minnesota, United States

Duke University Medical Center

🇺🇸

Durham, North Carolina, United States

Northwest Perinatal Center

🇺🇸

Portland, Oregon, United States

Oregon Health Sciences University

🇺🇸

Portland, Oregon, United States

Medical College of Wisconsin

🇺🇸

Milwaukee, Wisconsin, United States

© Copyright 2025. All Rights Reserved by MedPath