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: April 12, 2017

Last verified: April 2017

History of Changes

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:

Genetics Home Reference related topics: Down syndrome trisomy 13 trisomy 18

Genetic and Rare Diseases Information Center resources: Turner Syndrome Gonadal Dysgenesis Chromosomal Triplication Trisomy 13 Trisomy 18

U.S. FDA Resources

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


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:

Singleton pregnancy
Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical estimate
Mother has a high or moderate risk for trisomy
Mother is planning to have or has had an amniocentesis or chorionic villus sampling (CVS) procedure

Exclusion Criteria:

Unavailability of the father to provide a genetic sample (e.g. sperm donor, non-paternity)
Egg donor used
Mother or father have known chromosomal abnormalities (including known balanced translocations)
Participation in the study in a previous pregnancy
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

Additional Information:

Press release announcing award of NIH grant to cover clinical trial This link exits the ClinicalTrials.gov site


Responsible Party:	Natera, Inc.
ClinicalTrials.gov Identifier:	NCT01545674 History of Changes
Other Study ID Numbers:	GSN012B 1R44HD062114 ( US NIH Grant/Contract Award Number )
Study First Received:	March 1, 2012
Last Updated:	April 12, 2017
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 June 23, 2017

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