Emerging Considerations For Noninvasive Prenatal Testing

Approaches to prenatal screening for common fetal chromosomal aneuploidies are undergoing a dynamic transformation in response to a greater understanding surrounding advances in the clinical utilities and limitations of noninvasive prenatal testing (NIPT).10 NIPT has been clinically adopted as a screening tool for aneuploidies, such as Down, Edwards, and Patau syndromes, and methodologies are primarily based on next generation sequencing of cell-free DNA (cfDNA) from maternal plasma. The cfDNA comprises maternal DNA fragments as well as placental DNA fragments that serve as a fetal surrogate marker. While NIPT was initially recommended as a screening option for high-risk women from about 10 weeks of gestation, recent clinical studies demonstrate that NIPT outperforms conventional screening approaches (e.g., first trimester combined test) regardless of the maternal age spectrum. The American College of Medical Genetics and Genomics updated recommendations in 2016 to include informing all pregnant women that NIPT is a screening option for conventionally screened aneuploidies. However, the potential expansion of NIPT utilization in prenatal care practices is faced with evolving challenges. Depending upon the laboratory, test methodology, and bioinformatics processes used, NIPT result reporting is not standardized. The decision of whether to use NIPT screening is ultimately that of the informed patient. However, it will also be driven by the ability to clearly communicate the risks and benefits of screening approaches by the clinical care team. This highlights the need for multidisciplinary collaboration in the clinical implementation of NIPT. To address these exciting advancements and emerging considerations, we invited a group of experts and early adopters of NIPT screening from multiple disciplines (genetic counseling, obstetrics, genomics, ethics, and clinical chemistry) to share their views on this topic.Does NIPT have a role beyond screening for fetal chromosomal aneuploidies in high-risk pregnancies? Judith Jackson: NIPT plays an important role in screening for …