Academic Trials: Ongoing
The single nucleotide polymorphism SNP-based Microdeletion and Aneuploidy RegisTry (SMART) study is a multi-center prospective observational study designed to track birth outcomes and perinatal correlations 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 study is led by Dr. Mary Norton (UCSF, CA) and Dr. Pe'er Dar (Montefiore, NY), with data coordination performed by George Washington University Biostatistics Center, and will include twenty other leading academic centers.
The primary objective is to evaluate the performance of 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, specifically sensitivity, specificity, and positive predictive value (PPV).
This is a clinical utility trial designed to assess how non-invasive prenatal testing (NIPT) for aneuploidy should be integrated into patient care practices in the general population. More than 2,500 women from Rhode Island were offered Panorama as part of their prenatal care, and the effect on care was monitored and analyzed. This study was sponsored by Natera and led by Chief Investigator Dr. Glenn Palomaki through Women and Infant’s Hospital, Rhode Island. Enrollment is now closed, and a manuscript describing the results of the study has been submitted for publication.
PreNATUS (Prenatal Non-invasive Aneuploidy Testing Using SNPs) is a prospective blinded trial to demonstrate the accuracy of the Panorama® test to detect genetic abnormalities (including Down syndrome) in a high-risk population by analyzing free floating fetal DNA found in maternal blood during pregnancy. This study is sponsored by Natera with partial grant funding support from the NIH and is being led by Chief Investigator Dr. Ronald Wapner at Columbia University Medical Center. More than 30 other sites are participating including Stanford University, Massachusetts General Hospital / Harvard, Yale University, Mount Sinai School of Medicine, Carnegie Hill Imaging for Women, University of Perugia (Italy) and Montefiore Medical Center. Enrollment is now closed, and analysis is ongoing.
Natera Trials: Ongoing
(Currently Seeking Participants)
Prenatal Aneuploid Twin Samples
In order to establish the precise accuracy of the Panorama NIPT to detect aneuploidy in twin pregnancies, we are seeking to enroll any woman carrying a twin gestation pregnancy with a positive prenatal microarray or FISH test for a whole chromosome abnormality (such as Down syndrome). Participation requires a blood sample from the mother as well as blood or cheek swab from the father (when possible).
Prenatal Microdeletion Samples
In order to detect smaller, more atypical deletions in the Panorama NIPT microdeletions panel, including the 22q11.2 deletion (DiGeorge Syndrome), and to further extend the panel to cover new microdeletions, we are seeking to enroll any woman carrying a singleton pregnancy with a positive prenatal microarray or FISH test for a microdeletion/ duplication genetic abnormality. Participation requires a blood sample from the mother as well as blood or cheek swab from the father (when possible).
Microdeletion / Aneuploidy Family Triad Samples
In order to continue to improve the accuracy of the Panorama NIPT to detect microdeletions in our current panel and to further extend that panel, we are seeking to enroll any couple who has a born child diagnosed with a chromosome abnormality such as Down syndrome, a microdeletion syndrome such as the 22q11.2 deletion (DiGeorge syndrome) or sex chromosome abnormalities such as Klinefelter syndrome through a positive microarray or FISH test. Participation requires a blood sample from the mother, a blood sample from the born child, and a blood or cheek swab sample from the biological father. These families are also welcome to contribute a blood or cheek swab sample from an unaffected sibling(s) as well, although this is not required for participation.
Completed Clinical Trials
Panorama NIPT for Aneuploidy - Target Sequencing Validation
This was a blinded clinical trial conducted by Dr. Kypros Nicolaides at King’s College of London Stanford University comparing Natera’s Panorama NIPT for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), and Monosomy X (Turner syndrome) to karyotyping. The study results found no errors in more than 240 tests run, and validated the Panorama Test for clinical use. Results have been published in Prenatal Diagnosis.
Panorama NIPT for Aneuploidy - High Risk and Low Risk Validation
In this larger clinical study, more than 1,000 samples were tested for Trisomy 21, Trisomy 18 Trisomy 13 and Monosomy X, further validating the methodology behind the Panorama test. Cooperating centers included Columbia University Medical Center, Stanford University School of Medicine, George Washington University, Mount Sinai School of Medicine, Carnegie Hill Imaging for Women, Baylor, Stanford University, and Yale University. Results have been published in Obstetrics & Gynecology.
Panorama NIPT for Triploidy
This was a blinded clinical trial conducted by Dr. Kypros Nicolaides at King’s College of London demonstrating that Natera’s Panorama NIPT is able to detect triploidy, something that no other NIPT is able to do. Results have been published in Fetal Diagnosis and Therapy.
Molecular Karyotyping of Products of Conception (POC) Following Miscarriage
This was a prospective study conducted by Stanford University comparing the ability of Parental Support™ technology, used in Natera’s Anora Test, to detect aneuploidy and maternal cell contamination in products of conception samples to traditional metaphase karyotype. Results have been published in PLoS One.