Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study

Abstract

Background: In 2014, Ontario augmented its publicly funded multiple-marker screening program for prenatal aneuploidy by incorporating cell-free fetal DNA (cffDNA) analysis for high-risk pregnancies. We assessed trends in the use of multiple-marker screening, cffDNA screening and prenatal diagnostic testing before and after implementation of public funding. Methods: We conducted a descriptive study based on data from the Better Outcomes Registry & Network (BORN) Ontario. The study population included all pregnant women in Ontario with a singleton pregnancy and an expected date of delivery between July 1, 2012, and Mar. 31, 2016, with pregnancy data captured in BORN. Pregnancy losses and terminations before 20 weeks' gestation not captured in BORN were excluded. We generated descriptive statistics to show trends and regional variations in use. Results: The study sample included 534 210 singleton pregnancies. After cffDNA screening was funded for specific indications, uptake of multiple-marker screening increased slightly, from 66.5% to 68.1% (p < 0.001). Uptake of cffDNA screening among women with a positive multiple-marker screening result increased substantially, from 3.2% to 48.8% (p < 0.001). In contrast, the rate of prenatal diagnostic testing in this group decreased from 54.8% to 30.8% (p < 0.001). Although women aged 40 years or older are eligible for primary cffDNA screening, only a small decrease in the use of multiple-marker screening was observed in this group. The greatest use of cffDNA screening and greatest decline in prenatal diagnostic testing were seen in women with a level of risk for trisomy 21 of 1:101-1:200 based on multiple-marker screening. Interpretation: After public funding of cffDNA screening was implemented in Ontario, there was a significant increase in cffDNA screening and a significant decrease in prenatal diagnostic testing among women with a positive multiple-marker screening result. These changing patterns show the significant impact of public policy and funding decisions on women's choices regarding prenatal testing.

Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods

“…Studies have shown that when fetal aneuploidy screening is reimbursed, utilization increases significantly 19,24 . A Canadian survey study showed that a majority of pregnant women (66.4%) agreed that reimbursement of NIPT would greatly impact their decision to choose the test 25 .…”

Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany

“…However, Germany’s publicly funded health insurance system plans to cover NIPT for trisomies 21, 13, and 18 for particular pregnancies with increased need of surveillance and pregnancies with special risks. Introduction of nationwide health coverage for NIPT has been shown to result in a considerable increase in update of this type of prenatal screening for women with increased risk of fetal aneuploidy [ 43 , 44 ]. It is important that patients are informed that NIPT is not a diagnostic test, and that high-risk NIPT calls should be confirmed by invasive diagnostic procedures such as CVS or amniocentesis.…”

Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan

“…1 ). So far the uptake of NIPT in the Netherlands is moderate, however, it is expected to significantly increase if it could be reimbursed similar to screening by ultrasound [ 11 , 12 ]. In Dutch settings the expectation is that after subsequent FAS, about 0.2–0.3% of patients with normal NIPT results will show abnormal FAS outcome [ 6 ].…”