5 years ago

Women's Preference For Non-Invasive Prenatal DNA Testing (NIPT) Versus Chromosomal Microarray After Screening For Down Syndrome: A Prospective Study

Ka Yin Kwok, Tsz-kin LO, Yvonne Kwun Yue Cheng, Rossa Wai Kwun Chiu, Wing Cheong Leung, Kwong Wai Choy, Daljit Singh Sahota, Tak Yeung Leung
Objective To examine preference for follow-up test in women screened high or intermediate risk in 1st or 2nd trimester Down syndrome screening. Design Prospective cohort study. Setting Three public hospitals in Hong Kong, China. Sample Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). Methods Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing. Women received standardized counselling, reporting times were identical, procedure miscarriage risk was 0.1-0.2% and that there was no charge. Women with risk between 1:251 -1:1200 (IR) were offered NIPT as a secondary screening test. Main Outcome Measure NIPT uptake rate. Results Three hundred and forty-seven women were HR, 344(99.1%) opted for follow-up testing of which 216 (62.2%) chose NIPT. Five hundred and seven (82.6%) of 614 women with IR risk chose NIPT. Seven (21%) of 34 women with nuchal translucency ≥3.5mm opted for NIPT. Conclusions In a setting where reporting times are similar and there is no cost difference between options, approximately 60% of HR women would opt for NIPT offering simple but limited aneuploidy assessment over a diagnostic procedure with comprehensive and more detailed assessment. This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/1471-0528.15022

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