Clinical trial NCT01511458: Non-invasive Chromosomal Examination of Trisomy Study
Official title: Non-invasive Chromosomal Examination of Trisomy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Trisomy 21
Keywords: Pregnancy
Fetal aneuploidy
Trisomy 21
Down Syndrome
Prenatal screening
Non-invasive prenatal testing
First trimester
Combined screening
Nuchal translucency
PAPP-A
hCG
cell free DNA
cf DNA
DNA
Performance characteristics of non-invasive first trimester screening
Harmony Prenatal Test
Lead sponsor: Roche Sequencing Solutions
Sponsor class: INDUSTRY
Collaborators: name: Perinatal Quality Foundation: Nuchal Translucency Quality Review
First posted: 2012-01-18
Enrollment: 18955
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant women presenting for combined first trimester screening as part of routine prenatal care

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Difference in sensitivity and specificity of Ariosa Harmony™ Prenatal Test (AUCt) and combined first-trimester screening for detection of T21.
timeFrame: Enrollment to delivery
Secondary outcomes:
Other outcomes:
Locations:
city: Tucson
country: United States
facility: Tucson Medical Center
state: Arizona
city: Oakland
country: United States
facility: East Bay Perinatal Associates
state: California
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: Riverside
country: United States
facility: Perinatal Diagnostic Center
state: California
city: San Diego
country: United States
facility: University of California San Diego
state: California
city: San Francisco
country: United States
facility: California Pacific Medical Center
state: California
city: San Francisco
country: United States
facility: University of California San Francisco
state: California
city: San Gabriel
country: United States
facility: The Institute of Prenatal Diagnosis and Reproductive Medicine
state: California
city: Newark
country: United States
facility: Christiana Care Health System
state: Delaware
city: Lake Worth
country: United States
facility: Altus Research
state: Florida
city: Honolulu
country: United States
facility: Fetal Diagnostic Institute of the Pacific
state: Hawaii
city: Evanston
country: United States
facility: Northshore University Health System
state: Illinois
city: Louisville
country: United States
facility: Norton Healthcare
state: Kentucky
city: Boston
country: United States
facility: Brigham and Women's Hospital - Center for Fetal Medicine and Prenatal Genetics
state: Massachusetts
city: Minneapolis
country: United States
facility: Minnesota Perinatal Associates
state: Minnesota
city: New Brunswick
country: United States
facility: Robert Wood Johnson School of Medicine
state: New Jersey
city: New Brunswick
country: United States
facility: St. Peters University Medical Center
state: New Jersey
city: New York
country: United States
facility: Columbia University
state: New York
city: Durham
country: United States
facility: Duke University Medical Center
state: North Carolina
city: Portland
country: United States
facility: Northwest Perinatal Center
state: Oregon
city: Portland
country: United States
facility: Oregon Health Sciences University
state: Oregon
city: Abington
country: United States
facility: Abington Memorial Hospital
state: Pennsylvania
city: Philadelphia
country: United States
facility: Thomas Jefferson Univeristy Hospital
state: Pennsylvania
city: Wynnewood
country: United States
facility: Women's Health Care Group of Pennsylvania
state: Pennsylvania
city: Pawtucket
country: United States
facility: Partners in Obstetrics and Gynecology
state: Rhode Island
city: Milwaukee
country: United States
facility: Medical College of Wisconsin
state: Wisconsin
city: Leuven
country: Belgium
facility: University Hospitals Leuven
city: Calgary
country: Canada
facility: Early Risk Assessment Program - University of Alberta
state: Alberta
city: Ottawa
country: Canada
facility: Ottawa Hospital and Research Institute
state: Ontario
city: Toronto
country: Canada
facility: Mount Sinai University
state: Ontario
city: Toronto
country: Canada
facility: University of Toronto
state: Ontario
city: Perugia
country: Italy
facility: University of Perugia
city: Leiden
country: Netherlands
facility: Leiden University Medical Center
city: Maastricht
country: Netherlands
facility: Maastricht University Medical Center
city: Gothenburg
country: Sweden
facility: Sahlgrenska University Medical Center
city: Stockholm
country: Sweden
facility: Karolinska University Hospital
Study officials:
affiliation: Stanford University
name: Mary E. Norton, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Columbia University
name: Ronald Wapner, MD
role: PRINCIPAL_INVESTIGATOR
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