Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome
Pe’er Dar, MD; Bo Jacobsson, MD, PhD; Rebecca Clifton, PhD; Melissa Egbert, MS; Fergal Malone, MD; Ronald J. Wapner, MD; Ashley S. Roman, MD; Asma Khalil, MD; Revital Faro, MD; Rajeevi Madankumar, MD; Lance Edwards, MD; Noel Strong, MD; Sina Haeri, MD; Robert Silver, MD; Nidhi Vohra, MD; Jon Hyett, MD; Zachary Demko, PhD; Kimberly Martin, MD; Matthew Rabinowitz, PhD; Karen Flood, MD; Ylva Carlsson, MD, PhD; Georgios Doulaveris, MD; Sean Daly, MD; Maria Hallingström, PhD; Cora MacPherson, PhD; Charlly Kao, PhD; Hakon Hakonarson, MD, PhD; Mary E. Norton, MD
Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation
Pe’er Dar, MD; Bo Jacobsson, MD, PhD; Cora MacPherson, PhD; Melissa Egbert, MS; Fergal Malone, MD; Ronald J. Wapner, MD; Ashley S. Roman, MD; Asma Khalil, MD; Revital Faro, MD; Rajeevi Madankumar, MD; Lance Edwards, MD; Sina Haeri, MD; Robert Silver, MD; Nidhi Vohra, MD; Jon Hyett, MD; Garfield Clunie, MD; Zachary Demko, PhD; Kimberly Martin, MD; Matthew Rabinowitz, PhD; Karen Flood, MD; Ylva Carlsson, MD, PhD; Georgios Doulaveris, MD; Ciara Malone, MD; Maria Hallingstrom, PhD; Susan Klugman, MD; Rebecca Clifton, PhD; Charlly Kao, PhD; Hakon Hakonarson, MD, PhD; Mary E. Norton, MD
Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures
Wendy DiNonno 1 , Zachary Demko 1 , Kimberly Martin 1 , Paul Billings 1 , Melissa Egbert 1 , Susan Zneimer 1 , Dianne Keen-Kim 1 and Peter Benn 2
International Society for Prenatal Diagnosis (ISPD) Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies
Glenn E. Palomaki, PhD; Department of Pathology and Laboratory Medicine, Women & Infants Hospital and the Alpert Medical School at Brown University, Providence, RI, USA Rossa W.K. Chiu, MBBS, PhD; Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China Mark D. Pertile, PhD; Victorian Clinical Genetics Services (VCGS), Murdoch Children’s Research Institute, Melbourne, Australia Erik A. Sistermans, PhD; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, the Netherlands Yuval Yaron, MD; Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Medical Center, Faculty of Medicine Tel Aviv University, Tel Aviv, Israel Joris Robert Vermeesch, MD; Department of Human Genetics, KU Leuven, Leuven, Belgium; Neeta L. Vora, MD; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA Robert G. Best, PhD; University of South Carolina SOM Greenville, Greenville, SC, USA Louise Wilkins-Haug, MD; Division of Maternal Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women’s Hospital, Boston, MA, USA This article is protected by copyright. All rights reserved. ISPD Position Statement: cfDNA screening in multiple pregnancies Corresponding Author: Glenn E. Palomaki, PhD; Department of Pathology and Laboratory Medicine, Women & Infants Hospital and the Alpert Medical School at Brown University, Providence, RI, USA e-mail: gpalomaki@ipmms.org
Cell‐free DNA fetal fraction in twin gestations in single‐nucleotide polymorphism‐based noninvasive prenatal screening
Herman Hedriana1 | Kimberly Martin2 | Daniel Saltzman3 | Paul Billings2 | Zachary Demko2 | Peter Benn4
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Jeffrey S. Dungan1 , Susan Klugman2 , Sandra Darilek3 , Jennifer Malinowski4 , Yassmine M.N. Akkari5 , Kristin G. Monaghan6 , Angelika Erwin7 , Robert G. Best8 ; on behalf of the ACMG Board of Directors4
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Anthony R. Gregg, MD, MBA1 , Brian G. Skotko, MD, MPP2 , Judith L. Benkendorf, MS3 , Kristin G. Monaghan, PhD4 , Komal Bajaj, MD5 , Robert G. Best, PhD6 , Susan Klugman, MD7 and Michael S. Watson, MS, PhD3 ; on behalf of the ACMG Noninvasive Prenatal Screening Work Group
Screening for fetal Chromosomal Abnormalities
ACOG Practice Bulleting #226 Clinical Management Guidelines for Obstetrician-Gynecologists
More research is needed prior to the implementation of genome-wide cell-free DNA testing in specific populations (Response to letter L19-020A: Confined placental trisomy detection through cell-free DNA in the maternal circulation: Benefit for pregnancy management)
Di Renzo GC, Bartha JL, Bilardo CM. Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications. Am J Obstet Gynecol 2019;220: 537–42.
Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications
Gian Carlo Di Renzo, MD, PhD; Jose´ Luis Bartha, MD; Catia M. Bilardo, MD, PhD