The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS)

Vicky Hsieh,1 David M Sherer,1,2 Kateryna Davydovych,1 Mila Kheyman,2 Mudar Dalloul1,2 1The Division of Medical Genetics, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USA; 2The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USACorrespondence: David M Sherer, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, 450 Clarkson Avenue, Box 24, Brooklyn, NY, 11203, USA, Tel +1 718 270 2081, Fax +1 718 270-4122, Email [email protected]: Non-invasive prenatal screening (NIPS), utilizing cell-free fetal DNA (cffDNA), has revolutionized prenatal care, transitioning from primarily detecting common fetal aneuploidies to encompassing detection of an increasingly broader spectrum of autosomal dominant and recessive conditions. This Commentary delves into the evolution of NIPS, emphasizes the importance of individualized selection of NIPS strategies based on specific clinical scenarios including patient characteristics, and explores its applications beyond aneuploidy screening. The optimal NIPS strategy should be carefully selected based on individual patient factors, including the specific clinical indications, maternal characteristics such as BMI, medical history, medication use, history of previous pregnancies, fetal characteristics such as multiple gestation or suspected anomalies, and the available NIPS technologies. There are also considerations in choosing between MPSS and SNP-based NIPS based cfDNA screening technologies. NIPS is a screening test; hence, diagnostic testing remains crucial for confirmation of any abnormal screening results. Notwithstanding, NIPS has significantly transformed prenatal care, offering valuable insights into fetal health and enabling earlier identification of potential risks. By carefully considering individual patient factors and selecting the most appropriate NIPS strategy, clinicians have the ability to maximize the benefits of this innovative technology while minimizing potential limitations. Continued research and technological advancements will further refine NIPS and expand its applications in the future.Plain Language Summary: Development and implementation of NIPS has truly revolutionized the field of prenatal screening and prenatal care. This technology has the potential to remove barriers for patient access and provide early and accurate risk assessment for all pregnancies. Through continued research and progress for more methods of utilizing cfDNA technology in a variety of situations, there are now complexities in the selection of the optimal cfDNA screening approach depending on the clinical scenario. Insurance coverage is often also worthy of consideration for patients. It is important to note that insurance (at least in the United States) will often only cover one aneuploidy screening per pregnancy. Therefore, it is important to select the most appropriate test at the forefront. This commentary has outlined common situations where the prenatal care provider may require guidance in selection of the optimal screening NIPS for their patients.Keywords: cell-free fetal DNA, noninvasive prenatal screening, prenatal care, fetal aneuploidy