In this recorded webinar, Glenn Palomaki, PhD, discusses the clinical validity and utility of offering noninvasive prenatal testing (NIPT), also known as cell-free DNA screening, as a primary screen in the general pregnancy population. Using next-generation sequencing (NGS), NIPT screens for common aneuploidies with more true positives and fewer false positive results than traditional serum screening.(1-3) In reducing the rate of false positives, NIPT helps limit the number of invasive procedures performed.(3) This sensitivity and specificity has led medical societies to adopt guidelines recommending that screening for fetal aneuploidy be made available to all pregnant women.(4-6) Dr Palomaki is an expert in prenatal screening, and was a principal investigator on the first external NIPT clinical validation study.(7) In this webinar, Dr Palomaki will share his data and opinion on the clinical utility of NIPT in the general pregnancy population. He’ll walk through how to assess various aneuploidy screening tests in different patient populations, and review current medical society guidelines and findings that support the use of NIPT in the general pregnancy population, regardless of age or risk. Noninvasive prenatal testing (NIPT) is a screening test. Results should be confirmed by diagnostic testing prior to making any pregnancy management decisions.
1. Bianchi DW, Rava RP, Sehnert AJ. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;371(6):578.
2. Pergament E, Cuckle H, Zimmermann B, et al. Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort. Obstet Gynecol. 2014;124(2 Pt 1):210-218.
3. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. New Engl J Med. 2015; 372(17):1589-97.
4. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.
5. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016: doi:10.1038/gim.2016.97.
6. Benn P, Borrell A, Chiu R, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734.
7. Palomaki GE, Kloza EM, Lambert-Messerlian GM. DNA Sequencing of Maternal Plasma to Detect Down Syndrome. Obstetrical & Gynecological Survey. 2012;67(2):86-88. doi:10.1097/ogx.0b013e318247c6bf.
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