Brian G Skotko1,2, Megan A Allyse3, Komal Bajaj4, Robert G Best5, Susan Klugman4, Mark Leach6, Stephanie Meredith6, Marsha Michie7, Katie Stoll8, Anthony R Gregg9. 1. Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA. bskotko@mgh.harvard.edu. 2. Department of Pediatrics, Harvard Medical School, Boston, MA, USA. bskotko@mgh.harvard.edu. 3. Program in Biomedical Ethics Research and Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, MN, USA. 4. Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA. 5. University of South Carolina School of Medicine Greenville/Greenville Health System, Greenville, SC, USA. 6. National Center for Prenatal & Postnatal Resources, University of Kentucky, Lexington, KY, USA. 7. Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH, USA. 8. Genetic Support Foundation, Olympia, WA, USA. 9. Departments of Obstetrics and Gynecology and Maternal Fetal Medicine, Baylor University Medical Center, Dallas, TX, USA.
Abstract
PURPOSE: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. METHODS: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. RESULTS: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. CONCLUSIONS: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.
PURPOSE: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. METHODS: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. RESULTS: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. CONCLUSIONS: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.