Thank you for your letter and interest regarding the recent Society for Maternal-Fetal Medicine (SMFM) Consult #36: prenatal aneuploidy screening using cell-free DNA (cfDNA). We wholeheartedly agree that clear and comprehensive information and education are needed regarding the implementation of these tests into clinical practice.
We further agree that test accuracy is a metric of limited clinical value and that positive predictive value is the key to interpretation of post-test risk after cfDNA aneuploidy screening.
To assist providers in counseling their patients, the Perinatal Quality Foundation and the National Society for Genetic Counselors now provide access to an on-line positive predictive value calculator that is available for general use ( https://www.perinatalquality.org/Vendors/NSGC/NIPT/ ).
We hope that such tools will help facilitate improved quality of care with enhanced patient and provider understanding of cfDNA aneuploidy screening performance.