In June 2012, the California Technology Assessment Forum (CTAF) issued an independent evaluation of the cfDNA technology used for the assessment of fetal aneuploidy for Down syndrome (Trisomy 21) in high-risk women. The assessment concluded that the cfDNA technology is promising and has a high sensitivity and specificity for evaluation of fetal aneuploidy in high-risk women. In October 2012, CTAF recommended the use of cell-free fetal DNA as a prenatal advanced screening test for fetal aneuploidy for Trisomy 21 and Trisomy 18 in high-risk women. The recommendation was made by CTAF based on the following criteria:
- The technology must have final approval from the appropriate government regulatory bodies
- The scientific evidence must permit conclusions concerning the effectiveness of the technology regarding health outcomes
- The technology must improve net health outcomes
- The technology must be as beneficial as any established alternative(s)
- The improvement must be attainable outside the investigational setting
In addition, The National Society of Genetic Counselors (NSGC) issued a position paper in February 2012 indicating support for the use of NIPT as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC emphasizes that NIPT only be offered if there is an informed patient consent, patient education, and counseling provided by a certified genetic counselor. In addition, patients with abnormal NIPT results should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.
