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SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

Descriptive Information
Brief Title † SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Official Title † SNP-based Microdeletion and Aneuploidy RegisTry
Brief Summary This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.
Detailed Description The primary objective is to determine in a prospective study the performance of SNP based NIPT for the 22q11.2 microdeletion (DiGeorge syndrome) in a large cohort of pregnant women clinically opting for this form of screening. Specific test performance parameters will include: positive predictive value (PPV), specificity, and sensitivity. Secondary objectives include: 1. Determine the test performance (PPV, specificity) of SNP based NIPT for detecting other microdeletion syndromes available in the Panorama microdeletion panel (e.g., 1p36 deletion, Cri-du-chat, Prader-Willi, and Angelman) individually and all combined (including 22q11.2). Given the incidences of
Study Phase N/A
Study Type † Observational [Patient Registry]
Study Design † Observational Model: Cohort, Time Perspective: Prospective
Primary Outcome Measure † 22q11.2 Snp-based non-invasive prenatal screening test performance, including positive predictive value (PPV), specificity, and sensitivity
Secondary Outcome Measure † Combined microdeletion syndrome screening test performance
Condition † 22q11 Deletion Syndrome DiGeorge Syndrome Trisomy 21 Trisomy 18 Trisomy 13 Monosomy X Sex Chromosome Abnormalities Cri-du-Chat Syndrome Angelman Syndrome Prader-Willi Syndrome 1p36 Deletion Syndrome
Intervention †
Study Arms / Comparison Groups Pregnancies undergoing prenatal microdeletion screening Pregnant women undergoing non-invasive prenatal screening for microdeletion and aneuploidy syndromes. No drug will be administrated, this cohort will undergo a non invasive prenatal blood test and then follow up data and specimens will be collected for research analysis.
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 10000
Start Date † April 2015
Completion Date November 2017
Primary Completion Date September 2017
Eligibility Criteria † Inclusion Criteria: - Singleton pregnancy - Receiving Panorama prenatal screening test for both microdeletions (at least 22q11.2) and aneuploidy - Planned hospital delivery - Gestational age of ≥ 9 weeks, 0 days based on clinical information and evaluation. - Able to provide informed consent Exclusion Criteria: - Received results of the Panorama test prior to enrollment - Organ transplant recipient - Egg donor used
Gender Female
Ages 18 Years - 48 Years
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts †† Melissa Schirmer, MS, 650-249-9090, research@natera.com
Location Countries † United States
Administrative Information
NCT ID † NCT02381457
Organization ID 14-024-NPT
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Natera, Inc.
Collaborators †† George Washington University
Investigators † Principal Investigator: Peer Dar, MD, Montefiore Medical Center
Information Provided By
Verification Date June 2015
First Received Date † March 2, 2015
Last Updated Date June 1, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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