July 22, 2013

Guideline Title

NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Bibliographic Source(s)

Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, Campion MW, Devary K, Devers P, Singletary CN. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns. 2013 Feb;22(1):4-15. [44 references] PubMed External Web Site Policy

Guideline Status

This is the current release of the guideline.

NSGC practice guideline: prenatal screening an... [J Genet Couns. 2013] - PubMed - NCBI

2013 Feb;22(1):4-15. doi: 10.1007/s10897-012-9545-3. Epub 2012 Nov 22.

NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, Campion MW, Devary K, Devers P, Singletary CN.

Source

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. Kate.L.Wilson@uth.tmc.edu

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 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.