Authors' objectives: This health technology assessment looked at the test accuracy, clinical utility, cost-effectiveness, budget impact, and patient experiences of noninvasive prenatal testing (NIPT) for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions.

Authors' results and conclusions: Results: The pooled clinical sensitivity of NIPT in the average-risk or general population was 99.5% (95% confidence interval [CI] 81.8%–99.9%) for trisomy 21, 93.1% (95% CI 75.9%–98.3%) for trisomy 18, and 92.7% (95% CI 81.6%–99.9%) for trisomy 13. The clinical specificity for any trisomy was 99.9% (95% CI 99.8%–99.9%). Compared with traditional prenatal screening, NIPT was more accurate in detecting trisomies 21, 18, and 13, and decreased the need for diagnostic testing. We found limited evidence on NIPT for sex chromosome aneuploidies or microdeletions in the average-risk or general population. Positive NIPT results should be confirmed by diagnostic testing. Compared with traditional prenatal screening, second-tier NIPT detected more affected fetuses, substantially reduced the number of diagnostic tests performed, and slightly reduced the total cost of prenatal screening. Compared with second-tier NIPT, first-tier NIPT detected more affected cases, but also led to more diagnostic tests and additional budget of $35 million per year for average-risk pregnant people in Ontario. People who had undergone NIPT were largely supportive of the test and the benefits of earlier, more accurate results. However, many discussed the need for improved pre- and post-test counselling and raised concerns about the quality of the information they received from health care providers about the conditions NIPT can screen for. Conclusions: NIPT is an effective and safe prenatal screening method for trisomies 21, 18, and 13 in the average-risk or general population. Compared with traditional prenatal screening, second-tier NIPT improved the overall performance of prenatal screening and slightly decreased costs. Compared with second-tier NIPT, first-tier NIPT detected more chromosomal anomalies, but resulted in a considerable increase in the total budget. Interviewees were generally positive about NIPT, but they raised concerns about the lack of good informed-choice conversations with primary care providers and the quality of the information they received from health care providers about chromosomal anomalies.

Authors' recommendations: Health Quality Ontario, under the guidance of the Ontario Health Technology Advisory Committee, recommends that Ontario continue publicly funding noninvasive prenatal testing for pregnancies at high risk for trisomies 21, 18, and 13, and sex chromosome aneuploidies. Health Quality Ontario, under the guidance of the Ontario Health Technology Advisory Committee, recommends against publicly funding noninvasive prenatal testing for pregnancies at average risk for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions.

Authors' methods: We completed a health technology assessment, which included an evaluation of clinical benefits and harms, value for money, budget impact, and patient preferences related to NIPT. We performed a systematic literature search for studies on NIPT for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions in the average-risk or general population. We evaluated the cost-effectiveness of traditional prenatal screening, NIPT as a second-tier test (performed after traditional prenatal screening), and NIPT as a first-tier test (performed instead of traditional prenatal screening). We also conducted a budget impact analysis to estimate the additional costs of funding first-tier NIPT. We interviewed people who had lived experience with NIPT and people living with the conditions NIPT screens for, or their families.

Project Status: Completed

Year Published: 2019

URL for published report: https://www.hqontario.ca/evidence-to-improve-care/health-technology-assessment/reviews-and-recommendations/noninvasive-prenatal-testing-for-trisomies-21-18-and-13-sex-chromosome-aneuploidies-and-microdeletions

Requestor: Ontario Health Technology Advisory Committee (OHTAC); Ontario Ministry of Health

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Canada

Province: Ontario

Pubmed ID: 30847010

Organisation Name: Health Quality Ontario

Contact Address: Evidence Development and Standards, Health Quality Ontario, 130 Bloor Street West, 10th floor, Toronto, Ontario Canada M5S 1N5

Contact Name: EDSinfo@hqontario.ca

Contact Email: OH-HQO_hta-reg@ontariohealth.ca

Copyright: Health Quality Ontario