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

This study is ongoing, but not recruiting participants.
Sponsor:
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.
ClinicalTrials.gov Identifier:
NCT01545674
First received: March 1, 2012
Last updated: September 20, 2016
Last verified: September 2016
  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). ] [ Designated as safety issue: No ]
    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 2016
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

Ages Eligible for Study:   Child, Adult, Senior
Genders 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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01545674

  Show 29 Study Locations
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

Responsible Party: Natera, Inc.
ClinicalTrials.gov Identifier: NCT01545674     History of Changes
Other Study ID Numbers: GSN012B  1R44HD062114 
Study First Received: March 1, 2012
Last Updated: September 20, 2016
Health Authority: United States: Institutional Review Board
United States: Federal Government
Individual Participant Data  
Plan to Share IPD: No
Plan Description: A peer reviewed publication is planned from this study.

Keywords provided by Natera, Inc.:
Aneuploidy
Non-invasive Prenatal Diagnosis
Prenatal Blood Test
Prenatal Aneuploidy Screening
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

ClinicalTrials.gov processed this record on September 28, 2016