Clinical trial NCT01545674: Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
Official title: Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Trisomy 13
Trisomy 18
Trisomy 21
Aneuploidy
Keywords: Aneuploidy
Non-invasive Prenatal Diagnosis
Prenatal Blood Test
Prenatal Aneuploidy Screening
Trisomy 13
Trisomy 18
Trisomy 21
Trisomy
Down Syndrome
Turner Syndrome
Edwards Syndrome
Lead sponsor: Natera, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Columbia University
name: George Washington University
name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
First posted: 2012-03-07
Enrollment: 937
Sex: FEMALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant Women

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.

Eligibility criteria: 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

Primary outcomes:
measure: Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
timeFrame: Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS).
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama
state: Alabama
city: Los Angeles
country: United States
facility: Cedars-Sinai Medical Center
state: California
city: San Francisco
country: United States
facility: California Pacific Medical Center
state: California
city: Stanford
country: United States
facility: Stanford University
state: California
city: New Haven
country: United States
facility: Yale University
state: Connecticut
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Hinsdale
country: United States
facility: Adventist Hinsdale Hospital
state: Illinois
city: Indianapolis
country: United States
facility: Indiana University
state: Indiana
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Boston
country: United States
facility: Tufts Medical Center
state: Massachusetts
city: Brooklyn
country: United States
facility: NY Methodist Hospital
state: New York
city: Mineola
country: United States
facility: Madonna Perinatal
state: New York
city: New York
country: United States
facility: New York University
state: New York
city: New York
country: United States
facility: The Mount Sinai Hospital
state: New York
city: New York
country: United States
facility: Columbia University
state: New York
city: New York
country: United States
facility: Carnegie Imaging for Women
state: New York
city: New York
country: United States
facility: Montefiore Medical Center
state: New York
city: Chapel Hill
country: United States
facility: University of North Carolina
state: North Carolina
city: Charlotte
country: United States
facility: Carolinas Medical Center
state: North Carolina
city: Portland
country: United States
facility: Oregon Health and Science University
state: Oregon
city: Allentown
country: United States
facility: Lehigh Valley Hospital
state: Pennsylvania
city: Columbia
country: United States
facility: University of South Carolina
state: South Carolina
city: Galveston
country: United States
facility: University of Texas Medical Branch
state: Texas
city: Madison
country: United States
facility: University of Wisconsin
state: Wisconsin
city: Toronto
country: Canada
facility: Mt Sinai Hospital
city: Dublin
country: Ireland
facility: Royal College of Surgeons in Ireland
city: Perugia
country: Italy
facility: University of Perugia
city: Seoul
country: Korea, Republic of
facility: Hamchoon Women's Clinic
city: Barcelona
country: Spain
facility: Institut Universitari Dexeus
Study officials:
affiliation: Columbia University
name: Ronald Wapner, MD
role: PRINCIPAL_INVESTIGATOR
References: