NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy
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PROFESSIONAL DEVELOPMENT PAPER
NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy K. L. Wilson & J. L. Czerwinski & J. M. Hoskovec & S. J. Noblin & C. M. Sullivan & A. Harbison & M. W. Campion & K. Devary & P. Devers & C. N. Singletary Received: 1 June 2012 / Accepted: 17 September 2012 / Published online: 22 November 2012 # National Society of Genetic Counselors, Inc. 2012
Abstract The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester K. L. Wilson (*) Department of Ob/Gyn, Division of Gynecologic Oncology, The University of Texas Health Science Center at Houston, 6410 Fannin St, Suite 1217, Houston, TX 77030, USA e-mail: [email protected] S. J. Noblin : C. N. Singletary Department of Pediatrics, The University of Texas Health Science Center at Houston, 6410 Fannin Street, Suite 1217, Houston, TX 77030, USA P. Devers Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, CB# 7516, Chapel Hill, NC 27599-7516, USA A. Harbison Deparment of Ob/Gyn, Division of Maternal Fetal Medicine, The University of Texas Health Science Center at Houston, 5656 Kelley Street, Houston, TX 77026, USA M. W. Campion Boston University School of Medicine, 85 E. Newton St, M913, Boson, MA 02118, USA K. Devary EvergreenHealth Maternal Fetal Medicine, 12333 NE 130th Lane, Suite Tan 240, Kirkland, WA 98034, USA J. L. Czerwinski : J. M. Hoskovec : C. M. Sullivan Department of Ob/Gyn, Division of Maternal Fetal Medicine, The University of Texas Health Science Center at Houston, 6410 Fannin St, Suite 1217, Houston, TX 77030, USA
screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient’s entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.
Keywords Prenatal screening . Prenatal testing . Ch
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