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SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20960

Last updated 2021-01-29

No results posted yet for this study

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.

Conditions

  • 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

Sponsors & Collaborators

Principal Investigators

  • Peer Dar, MD · Montefiore Medical Center

  • Mary Norton, MD · University of California, San Francisco

Eligibility

Min Age
18 Years
Max Age
48 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-04-30
Primary Completion
2020-06-30
Completion
2020-06-30

Countries

  • United States
  • Australia
  • Ireland
  • Spain
  • Sweden
  • United Kingdom

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02381457 on ClinicalTrials.gov