New Screening Test Detects Congenital Heart Defects in Early Pregnancy

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Intellison has completed the development of a proprietary database and algorithms that enables efficient first and early second-trimester simultaneous screening of the 25 most common Congenital Heart Defects (CHDs), with 75 percent of the cases detectable by 16 weeks.

Congenital Heart Defects are seven times more common than Down Syndrome. Most cases with CHD occur in low-risk populations, and cannot be detected by tests offered by genetic labs, except in a few cases. Instead, ultrasound is the diagnostic method. However, the screening rate for Down Syndrome exceeds 90 percent, while the screening rate for CHDs is just 26 percent. Most CHDs are correctable and cases diagnosed in utero have significantly better outcomes than cases detected after birth, which makes early screening a priority.

The database was developed with the help of 65 medical centers and specialists who participated in the first trimester study of IRONFAN-International Registry of Fetal Anomalies, and corrected and maintained by top experts in fetal echocardiography and pioneers in first-trimester ultrasound.

CEO & Chief Scientist of Intellison, Dr. Shraga Rottem, who is also the Director and PI of IRONFAN’s AI Lab and Machine Learning in Maternal-Fetal Medicine (MFM), considers this patented screening system in obstetrics a much-needed solution to an unaddressed need. Some 85 percent of CHDs occur in low-risk patients, paradoxically making them a high-risk population. Increasing the detection rate of cases to be evaluated at a full fetal echo by specialists requires a more effective screening process. Intellison’s novel bioinformatics tool can analyze any possible morphologic and biometric markers of 25 CHDs at any gestational age, with special emphasis at the time of the routine screening of Down syndrome at 11 to 13 weeks. The proprietary fetal echo database and algorithms use self-adjusting rules based on real time findings. The result is a more focused process. This method also takes less time than the current process of scanning and re-scanning to obtain fetal heart views while tracking both a moving target (the fetus) and moving organ (the fetal heart).

This is a two step screening for 25 CHDs preferably starting at the 11-13 wks scan, with the option of scheduling and rescheduling of any case at any week. The system has two levels of screening (basic and advanced) and is customizable according to the desired sensitivity (which can exceed 95 percent), the skill of the operators, the quality of the ultrasound machines and time allocated to the scan. The browser-based system can be hosted on iPads or tablets attached to monitors of any ultrasound systems and communicates with the database and algorithms in the cloud. The system is device agnostic. Intellison foresees rapid adoption of this informatics based screening tool for CHDs as a much needed test, as an expansion of the Down Syndrome screening in near 4 million patients in the US.

Dr. Rottem and a team of specialists in fetal echo and Maternal-Fetal Medicine are currently selecting the independent technology-validation sites for the advanced version of the platform, focusing on Departments of Obstetrics and MFM clinics.

For more information please contact Shraga Rottem M.D., D.Sc.Phone: (212) 851-5419 Email: screening(at)intellison(dot)net

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Shraga Rottem M.D., D.Sc.
+1 (212) 851-5419
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