A better solution for prenatal testing

The noninvasive prenatal genetic diagnostic market is one of the largest and fastest growing diagnostic categories in the world today. All current chromosome aneuploidy tests, including recently introduced fetal DNA tests, have American College of Obstetrics and Gynecology (ACOG) endorsement only for woman at high risk (women over the age of 35 and other risk factors). What is needed is a better testing paradigm with significantly improved Positive Predictive Value (PPV) such that it can be used in all women, including low risk populations at an affordable cost.  Although studies currently underway should produce better individual PPVs, adding additional genes beyond aneuploidy will increase the overall False Positive Rate.

All current tests require an invasive amniocentesis confirmation for definitive diagnosis after a positive screening test. A fully noninvasive test solution is in development at Celula, utilizing fetal cells isolated from the maternal circulation. When used in conjunction with Celula’s cost-efficient screening test up front, the result is significantly improved accuracy. Also, by reducing the number of false positives, fewer patients require invasive amniocentesis, that may cause miscarriages. With the ability to isolate fetal cells from the maternal circulation, a potentially fully noninvasive solution for prenatal diagnosis of most genetic disorders including single gene genetic disorders, would be possible.