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Peer-Reviewed Publication
J Matern Fetal Neonatal Med2026;39(1):2614840.December 1, 2026Journal Article

Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnancies.

Ruben Quintero1, K Joseph Hurt2, Neeta L Vora3, Neil S Seligman4, Gerard P Reilly5, Myra J Wick6, Samuel B Wolf7, Maeve Hopkins8, Thomas Westover9, Homa K Ahmadzia10, Camille Kanaan11, Andrei Rebarber12, Eftichia V Kontopoulos1, Jingwen Zhang13, Melissa Egbert13, Sophia Vourthis13, Ashley Cantu-Weinstein13, Jessica L Saben13, Russ Jelsema13, Vivienne Souter13, Clark T Johnson14,15,16, Peter Benn17
1Department of Fetal Therapy, The Fetal Institute, Coral Gables, FL, USA.
2Department of Obstetrics and Gynecology, University of Colorado, School of Medicine, Aurora, CO, USA.
3Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of North Carolina, Chapel Hill, NC, USA.
4Department of Obstetrics and Gynecology, University of Rochester, Rochester, NY, USA.
5Department of Obstetrics and Gynecology, Seven Hills Clinical Research Group, Worcester, MA, USA.
6Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, MN, USA.
7Department of Clinical Research, Emerald Coast OBGYN Clinical Research, Panama City, FL, USA.
8Department of Maternal-Fetal Medicine, Cleveland Clinic, Cleveland, OH, USA.
9Department of Obstetrics and Gynecology, Capital Health, Pennington, NJ, USA.
10Department of Obstetrics and Gynecology, Inova Health System, Fairfax, VA, USA.
11Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, VA, USA.
12Department of Obstetrics and Gynecology, Mount Sinai West, Ichan School of Medicine at Mount Sinai Hospital, New York, NY, USA.
13Molecular Biology Informatics & Statistics Natera, Inc., Austin, TX, USA.
14Department of Obstetrics and Gynecology, Sinai Hospital of Baltimore, Baltimore, MD, USA.
15Department of Obstetrics and Gynecology, George Washington School of Medicine and Health Sciences, Washington, DC, USA.
16Department of Obstetrics and Gynecology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
17UConn Health, Farmington, CT, USA.

Abstract

INTRODUCTION: The importance of prenatal determination of chorionicity for the management of twin pregnancies is well recognized. However, research on the contribution of prenatal evaluation of zygosity to the management of twins is limited. We assessed the utility of adding SNP-based cell-free DNA (cfDNA) zygosity testing to ultrasound chorionicity assessment for the clinical management of twin p…

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