Snp-based Microdeletion and Aneuploidy RegisTry
Principal Investigator – Prof. Fergal Malone
Coordinator: Lisa McSweeney
Natera® is a leading, worldwide genetic testing and diagnostics company specializing in Non-Invasive Prenatal Testing (NIPT) for genetic disorders. The Panorama NIPT test analyses cell free DNA circulating in the pregnant mothers blood. Panorama is used in clinical practice at the Rotunda to screen pregnancies in order to determine which ones are at higher risk for the fetus having chromosomal abnormalities such as Trisomy 13,18 and 21 and certain sex chromosome abnormalities.
The Natera-sponsored SMART study is a post-market study that aims to further evaluate the performance of a non-invasive prenatal screening test, in a large group of pregnant women, by collecting the birth outcomes of the pregnancy and comparing the outcomes with the prenatal screening results. For the purpose of this study an additional microdeletion known as DiGeorge Syndrome (22q11.2) is being added to the screening. This additional microdeletion is not currently offered as part of routine clinical practice in the Rotunda and the purpose of this study is to verify whether it is sufficiently sensitive to offer it as part of routine screening in the future.
The SMART study was initiated at the Rotunda in June 2016 and has over 3000 patients recruited to date. The study is expected to continue until December 2018. Any patient who chooses to have Panorama non-invasive testing and is over 9 weeks gestation with a singleton pregnancy is eligible to take part in the SMART study.
At time of NIPT appointment, you will have an ultrasound scan to confirm dates and viability. If you are over 9 weeks gestation, a simple blood test will be taken and sent to the laboratory in the US for analysis. Your result is available 10-12 working days later. A member of the SMART study research team will approach you at time of NIPT to discuss and answer any questions you may have regarding the study. All interested patients will sign a written informed consent form at time of blood draw. You may be contacted by a member of the research team during your pregnancy and after your baby is born to confirm the outcome and also to allow access to the residual stored newborn bloodspot.