Making Next Generation Testing a Reality
Natera’s test offerings are built upon a platform of cutting edge genetic science, advanced bioinformatics, and technical innovation. Though laboratory-based diagnostics are a largely unregulated area, our philosophy is that all diagnostic tests that we offer undergo rigorous pre-clinical and/or clinical validation.
PreNATUS (Prenatal Non-invasive Aneuploidy Testing Using SNPs)
This is a prospective blinded trial to validate clinical use of Parental SupportTM technology to detect genetic abnormalities (including Down Syndrome) from 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. To learn more about this study, including participating centers, click here.
Non-invasive Prenatal Diagnosis Validation Study
This is a prospective study to validate the use of Parental Support technology to detect a broader group of chromosome abnormalities (including microdeletions and sex chromosome abnormalities) from free floating fetal DNA found in maternal blood during pregnancy.
Any woman carrying a singleton pregnancy with a positive prenatal microarray or FISH test for a chromosome abnormality, microdeletion/duplication or sex chromosome abnormality is eligible. Participation requires a blood sample from the mother as well as blood or cheek swab from the father (when possible).
To learn more about the prenatal microdeletion study, click here.
To learn more about the prenatal sex chromosome abnormality study, click here.
Family Triad Samples
Any couple who has a born child diagnosed with a chromosome abnormality such as Down Syndrome, a microdeletion syndrome such as DiGeorge Syndrome or sex chromosome abnormality such as Klinefelter Syndrome through a positive microarray or FISH test is eligible. 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 sample from the unaffected sibling(s) as well, although not required.
To learn more about the family chromosome abnormality study, click here.
To learn more about the family microdeletion study, click here.
To learn more about the family sex chromosome abnormality study, click here.
First Use of Parental Support Technology for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis
This is ongoing but no longer recruiting patients. The purpose of this study was to validate clinical use of Parental Support technology to detect specific genetic mutation(s) known to cause severe inheritable diseases in embryos produced by at-risk couples. This may be done while simultaneously testing these embryos for aneuploidy. This study was partially supported by grant funding from the NIH. More information is available at clinicaltrials.gov.
Phase II: Clinical Use of Parental Support to Detect Single Gene Mutations
This is ongoing but no longer recruiting patients. This study composed second phase validation of the Single Gene PGD study listed above. This study was partially supported by grant funding from the NIH. More information is available at clinicaltrials.gov.
Molecular Karyotyping of Products of Conception (POC) Following Miscarriage
This study is complete. This was a prospective study conducted by Stanford University comparing molecular karyotyping using Parental Support technology with maternal cell contamination detection to traditional metaphase karyotype. Results were presented at the American Society of Reproductive Medicine meetings in 2010 and are currently submitted for publication.