Non-invasive prenatal testing: provider knowledge and future directions

Non-Invasive Prenatal Testing (NIPT) is a commercially available technology that analyzes cell-free fetal DNA circulating in maternal blood with the purpose of detecting specific fetal aneuploidies. Currently, this technology can be ordered by any prenatal medical professional including genetic counselors, obstetricians, and midwives. Professional societies recommend that NIPT be used as a screening method that is followed up with diagnostic testing and also that testing be accompanied with genetic counseling. With the increasing accessibility and relatively low cost of NIPT, prenatal medical professionals and labs are considering offering NIPT to all pregnant women. \ud A questionnaire focusing on knowledge and views of NIPT was distributed to genetic counselors via the National Society of Genetic Counselors. Results were analyzed using descriptive statistics. Results showed that a total of 95% of genetic counselors agreed/strongly agreed with being familiar with NIPT clinical data. 99% are mostly confident/very confident when interpreting or explaining NIPT results to their patients. 89% agreed/strongly agreed they are familiar with microdeletion and microduplication conditions analyzed via NIPT. Although there is a strong understanding of microdeletions and microduplications, 26% agreed that they should be analyzed via NIPT while 35% did not agree. 95% of genetic counselors currently order NIPT for high-risk pregnancies, while 36% order NIPT for average-risk pregnancies. Regarding monogenic disorder analysis, 32% approved of this addition to NIPT, 47% remained neutral, and 21% disapproved.\ud In the future, it is likely that NIPT will be offered via a public health-based model to all pregnancies rather than only pregnancies meeting high-risk criteria. This study aims to assess current opinions of genetic counselors regarding their knowledge and comfort level of genetic testing regarding NIPT in order to identify advantages, limitations, concerns, and gaps in knowledge. The public health significance of this research is that it will allow for the creation of appropriate educational materials regarding NIPT. Therefore, providers will become informed and skilled in their interactions with patients. This will in turn lead to a greater level of competency and education among all prenatal providers. Understanding these factors will help streamline patient interaction with the most benefit to the patient. \u