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

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01545674
First Posted: March 7, 2012
Last Update Posted: April 14, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
Columbia University
George Washington University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Natera, Inc.
  Purpose
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.

Condition Intervention
Trisomy 13 Trisomy 18 Trisomy 21 Aneuploidy Procedure: Blood Draw

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)

Resource links provided by NLM:


Further study details as provided by Natera, Inc.:

Primary Outcome Measures:
  • Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y. [ Time Frame: 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).


Biospecimen Retention:   Samples With DNA
Plasma Sample Prepared DNA

Estimated Enrollment: 1000
Study Start Date: January 2012
Estimated Study Completion Date: December 2017
Primary Completion Date: April 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Pregnant Women Blood Draw
Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw
Procedure: Blood Draw
Blood will be drawn from the mother and father

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Pregnant Women
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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01545674


  Hide Study Locations
Locations
United States, Alabama
University of Alabama
Birmingham, Alabama, United States, 35233
United States, California
Cedars-Sinai Medical Center
Los Angeles, California, United States, 90048
California Pacific Medical Center
San Francisco, California, United States, 94110
Stanford University
Stanford, California, United States, 94305
United States, Connecticut
Yale University
New Haven, Connecticut, United States, 06510
United States, Florida
University of Miami
Miami, Florida, United States, 33136
United States, Illinois
Adventist Hinsdale Hospital
Hinsdale, Illinois, United States, 60521
United States, Indiana
Indiana University
Indianapolis, Indiana, United States, 46207
United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02111
Tufts Medical Center
Boston, Massachusetts, United States, 02111
United States, New York
NY Methodist Hospital
Brooklyn, New York, United States, 11215
Madonna Perinatal
Mineola, New York, United States, 11501
New York University
New York, New York, United States, 10016
The Mount Sinai Hospital
New York, New York, United States, 10029
Columbia University
New York, New York, United States, 10032
Carnegie Imaging for Women
New York, New York, United States, 10128
Montefiore Medical Center
New York, New York, United States, 10467
United States, North Carolina
University of North Carolina
Chapel Hill, North Carolina, United States, 27599
Carolinas Medical Center
Charlotte, North Carolina, United States, 28232
United States, Oregon
Oregon Health and Science University
Portland, Oregon, United States, 97239
United States, Pennsylvania
Lehigh Valley Hospital
Allentown, Pennsylvania, United States, 18103
United States, South Carolina
University of South Carolina
Columbia, South Carolina, United States, 29203
United States, Texas
University of Texas Medical Branch
Galveston, Texas, United States, 77555
United States, Wisconsin
University of Wisconsin
Madison, Wisconsin, United States, 53715
Canada
Mt Sinai Hospital
Toronto, Canada
Ireland
Royal College of Surgeons in Ireland
Dublin, Ireland
Italy
University of Perugia
Perugia, Italy
Korea, Republic of
Hamchoon Women's Clinic
Seoul, Korea, Republic of
Spain
Institut Universitari Dexeus
Barcelona, Spain
Sponsors and Collaborators
Natera, Inc.
Columbia University
George Washington University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
Principal Investigator: Ronald Wapner, MD Columbia University
  More Information

Additional Information:
Responsible Party: Natera, Inc.
ClinicalTrials.gov Identifier: NCT01545674     History of Changes
Other Study ID Numbers: GSN012B
1R44HD062114 ( U.S. NIH Grant/Contract )
First Submitted: March 1, 2012
First Posted: March 7, 2012
Last Update Posted: April 14, 2017
Last Verified: April 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: A peer reviewed publication is planned from this study.

Keywords provided by Natera, Inc.:
Non-invasive Prenatal Diagnosis
Prenatal Blood Test
Prenatal Aneuploidy Screening
Aneuploidy
Trisomy 13
Trisomy 18
Trisomy 21
Trisomy
Down Syndrome
Turner Syndrome
Edwards Syndrome

Additional relevant MeSH terms:
Aneuploidy
Trisomy
Down Syndrome
Chromosome Aberrations
Pathologic Processes
Chromosome Duplication
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn