SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

Completed

Conditions studied: 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

In brief

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.

Key facts

Study ID

NCT02381457

Run by

Natera, Inc.

People needed

20960

Starts

2015-04-01

Expected to finish

2020-06-01

Last updated by the study team

2021-01-29

Who can join

Age: 18 and older, up to 48. Sex: female. Healthy volunteers: accepted.

You may qualify if…

• 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

You may not qualify if…

• Received results of the Panorama test prior to enrollment
• Organ transplant recipient
• Egg donor used

Where it is running

• University of California, San Francisco — San Francisco, California, United States
• Cooper University Hospital — Camden, New Jersey, United States
• Virtua — Mount Laurel, New Jersey, United States
• St. Peter's University — New Brunswick, New Jersey, United States
• Complete Women's Healthcare — Garden City, New York, United States
• North Shore University Hospital — Manhasset, New York, United States
• Madonna Perinatal — Mineola, New York, United States
• Long Island Jewish Medical Center — New Hyde Park, New York, United States
• New York University — New York, New York, United States
• Icahn School of Medicine Mt Sinai — New York, New York, United States
• Columbia University — New York, New York, United States
• Montefiore Medical Center — New York, New York, United States
• Suffolk OB — Port Jefferson, New York, United States
• North Austin Maternal Fetal Medicine — Austin, Texas, United States
• Zeid Women's Health Center — Longview, Texas, United States
• University of Utah — Salt Lake City, Utah, United States
• Royal Prince Alfred — Camperdown, New South Wales, Australia
• Royal College Surgeons in Ireland — Dublin, Ireland
• Dexeus — Barcelona, Spain
• Sahlgrenska University Hospital — Gothenburg, Sweden
• St. George University Hospital — London, United Kingdom

Full record on ClinicalTrials.gov

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