First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21

S. Maxwell; I. James; J.E. Dickinson; P. O'Leary

doi:10.1111/ajo.12428

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First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21

Journal article

Peer reviewed

First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21

S. Maxwell, I. James, J.E. Dickinson and P. O'Leary

Australian and New Zealand Journal of Obstetrics and Gynaecology, Vol.56(1), pp.29-35

2016

DOI: https://doi.org/10.1111/ajo.12428

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Abstract

Objective To provide data on how screen-positive and detection rates of first trimester prenatal screening for fetal Down syndrome vary with changes in the risk cut-off and maternal age to inform contingency criteria for publicly funded noninvasive prenatal testing. Materials and Methods First trimester screening and diagnostic data were collected for all women attending for first trimester fetal aneuploidy screening in Western Australia between 2005 and 2009. Prenatal screening and diagnostic data were linked to pregnancy outcomes, including data from the Midwives' Notification System and the Western Australian Registry of Developmental Anomalies. The prevalence of Down syndrome and performance of screening by risk cut-off and/or for women >35 years were analysed. Results The current screening risk cut-off of 1:300 has screen-positive and detection rates of 3.5% and 82%. The screen-positive rate increases by 0.7–0.8% for each 100 point change in risk, up to 19.2% at 1:2500 (96% detection rate). Including all women >35 years as screen positive would increase the screen-positive rate and detection rates to 30.2% and 97.2%. Conclusion Variation in screening risk cut-off and the use of maternal age to assess eligibility for noninvasive testing could significantly impact the demand for, and cost of, the test. A contingent first trimester screening approach for risk assessment is superior to the use of a combination of screening and maternal age alone. These data will inform decisions regarding the criteria used to determine eligibility for publicly funded noninvasive prenatal testing.

Details

Title: First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21
Authors/Creators: S. Maxwell (Author/Creator) - Curtin University
I. James (Author/Creator) - Murdoch University
J.E. Dickinson (Author/Creator) - The University of Western Australia
P. O'Leary (Author/Creator)
Publication Details: Australian and New Zealand Journal of Obstetrics and Gynaecology, Vol.56(1), pp.29-35
Publisher: Wiley
Identifiers: 991005542695607891
Copyright: © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists
Murdoch Affiliation: Institute for Immunology and Infectious Diseases
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.186 Chromosome Disorders; 1.186.1008 Prenatal Testing
Web Of Science research areas: Obstetrics & Gynecology
ESI research areas: Clinical Medicine