Uptake Of Non-invasive Prenatal Testing Research Articles

Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.

Non-invasive prenatal testing (NIPT) is provided in the private and public sectors worldwide as a first- or second-tier test. In England and France, NIPT is fully funded and offered as a contingent strategy with different probability cut-offs (1:150 and 1:1000). These different approaches to define the target population for NIPT have implications for how women experience their antenatal care. The paper explores and compares the perceptions and difficulties of women in England and France who took NIPT as a second-tier screening test. It is based on a semi-structured qualitative interview study with 17 women in England and France conducted between September 2021 and May 2022. The interviews were cross-analyzed using thematic analysis. Our findings show that most women express a preference for the offer of NIPT as a first-line screening test. Some issues with the contingent model, related to the access to information and termination of pregnancy (TOP), the disparities of NIPT uptake, and risks of generating anxiety with combined first-trimester screening (cFTS), could be addressed by a universal strategy for T21, T13, and T18. Nevertheless, this strategy could present some challenges for genetic counseling due to: women's understanding and expectations of NIPT; adequate information and counseling about the scope and limits of NIPT; concerns about the routinization of NIPT in the first-line offer; limitations and uncertainties associated with the provision of expanded NIPT in France; the remaining importance of other screening tests; and associated costs.

Case studies of fetal mosaicisms detected by non-invasive prenatal testing

Dear Editor, The American College of Medical Genetics and Genomics recommended that all pregnant women be offered non-invasive prenatal testing (NIPT) regardless of the patient’s risk profile.1 With increasing NIPT uptake, encounters with genetic conditions other than the 3 common fetal trisomies are becoming prevalent. We report 2 cases of fetal mosaicisms for chromosomes 13

The impact of maternal and geographical factors on the uptake of non-invasive prenatal testing: A retrospective cohort study.

The objectives of this study were to investigate recent trends in non-invasive prenatal testing (NIPT) utilisation, including factors associated with geographical variation, and to determine whether maternal or regional characteristics are associated with uptake the of NIPT. This retrospective cohort study included pregnant individuals in Ontario with an expected date of delivery from August 1st, 2016 to March 31st, 2020. Modified Poisson regression was used to estimate rate ratios for NIPT use adjusted for maternal and healthcare covariates. We found substantial variation in NIPT uptake between regions within the province. The highest uptake was found in urban areas, highest quintile of neighbourhood income and education, for those who were ≥40years of age and had a history of previous aneuploidy, for those with a prenatal care visit in the first trimester, multiple pregnancy, multigravidity and body mass index within the normal range (18.5-24.9kg/m2 ). Our study demonstrated significant regional and maternal differences in NIPT uptake across Ontario. Given the large sample size and diverse population, our study may have implications for other jurisdictions with large, socio-demographically and geographically diverse populations.

First Trimester Screening - Current Status and Future Prospects After Introduction of Non-invasive Prenatal Testing (NIPT) at a Tertiary Referral Center.

Objective To investigate the uptake of different components of first trimester screening (FTS) and the impact on invasive diagnostic testing (IPT) since the introduction of non-invasive prenatal testing (NIPT) at a level III center. Methods Retrospective data analysis was conducted for singleton pregnancies that presented for FTS between 01/2019–12/2019 (group 1, n = 990). Patients were categorized into three risk groups: low risk for trisomy 21 (< 1 : 1000), intermediate risk (1 : 101–1 : 1000) and high risk (≥ 1 : 100). Uptake of NIPT and IPT was analyzed for each of the risk groups. Results were compared to a previous cohort from 2012/2013 (immediately after the introduction of NIPT, group 2, n = 1178). Results Group 1 showed a significant increase in the use of NIPT as part of FTS (29.5% vs. 3.7% for group 2, p = 0.001) in all three risk groups. Overall IPT rates were lower in group 1 (8.6%) vs. group 2 (11.3%, p = 0.038), mainly due to a significant reduction of IPT in the intermediate risk group. IPT rates in the high-risk group remained stable over time. Conclusion Appropriate clinical implementation of NIPT is still currently a challenge for prenatal medicine experts. Our data suggest that widespread uptake of NIPT is becoming more common these days; however, a contingent approach might prevent redundant uptake.

Attitudes of Filipino parents of children with Down syndrome on noninvasive prenatal testing.

Globally, there has been an increasing uptake of noninvasive prenatal testing (NIPT). In the Philippines, the test is currently available through private laboratories and can be availed by families who can afford the out-of-pocket cost. In a country where elective termination of pregnancy is not an option, the question arises as to the relevance of this testing, even among health professionals. This is an exploratory qualitative study that explored the attitudes of Filipino parents of children with Down syndrome (DS) toward NIPT using thematic analysis of in-depth interviews. Study participants acknowledged the value of NIPT in providing early diagnosis and, subsequently, emotional, mental, spiritual, and financial preparation. This said, they also emphasized that such early detection may cause anxiety and even thoughts of termination for some, despite abortion being against the law and predominant religious beliefs. For those undergoing NIPT and receiving positive results, study participants highlighted the need to receive proper and nonbiased counseling from both health professionals and parents who have children with DS.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12687-022-00597-w.

Insurance and geographic variations in non-invasive prenatal testing.

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Implementation of non-invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices.

To evaluate the implementation of non-invasive prenatal testing (NIPT) on pregnant women's choices in a national NHS antenatal screening programme for Down's syndrome, Edwards' syndrome and Patau's syndrome. An observational study of all pregnant women with a singleton pregnancy and higher chance (≤1:150) combined or quadruple screening result from 30 April 2018 to 25 September 2020 in Wales, UK. Pregnant women's journey through the pathway was determined including uptake of NIPT, performance of NIPT in a non-research setting and invasive procedures performed. Of the 1273 women with a higher chance initial screening, 1073 (84%) chose NIPT contingent test, 174 (14%) no further testing and 26 (2%) invasive procedure. There were 1001 (93%) low chance NIPT results; 11 (1%) failed results and 61 (6%) high chance results. Average annual incidence of 27 invasive procedures undertaken compared to 229 pre-NIPT implementation, a nearly ninefold reduction. Down's syndrome annual live birth rate remained unchanged across the implementation period. This study demonstrates that NIPT contingent screening was highly acceptable to women with a resulting reduction in invasive procedures performed. The high uptake of NIPT in NHS antenatal screening pathway conditions should inform planning for other national screening programmes.

Non-invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods.

ObjectiveNon‐Invasive Prenatal Testing (NIPT) is increasingly being implemented worldwide. In public health programs, equitable access to healthcare is a fundamental principle which also applies to fetal aneuploidy screening. However, the out‐of‐pocket costs of NIPT may lead to sociodemographic disparities in uptake of screening. This study assessed whether there is a difference in the uptake of NIPT in socioeconomically disadvantaged neighborhoods compared to all other neighborhoods in the Netherlands, where NIPT is implemented in a national screening program (TRIDENT‐2 study).MethodNIPT uptake, postal code and age of 156,562 pregnant women who received pre‐test counselling for prenatal screening in 2018 were retrieved from the national prenatal screening database. Postal codes were used as a proxy to categorize neighborhoods as being either socioeconomically disadvantaged or other. The out‐of‐pocket costs for NIPT were €175.ResultsNIPT uptake in socioeconomically disadvantaged neighborhoods was 20.3% whereas uptake in all other neighborhoods was 47.6% (p < 0.001). The difference in NIPT uptake between socioeconomic disadvantaged neighborhoods and other areas was smaller for the youngest maternal age‐group (≤25 years) compared to other age‐groups.ConclusionThe variation in uptake suggest underlying disparities in NIPT uptake, which undermines the goals of a national fetal aneuploidy screening program of providing reproductive autonomy and equitable access. This has ethical and policy implications for ensuring fair and responsible implementation of fetal aneuploidy screening.

Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?

By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole.

The impact of insurance on equitable access to non-invasive prenatal screening (NIPT): private insurance may not pay.

Non-invasive prenatal testing (NIPT), is a prenatal screening test for chromosomal aneuploidies (trisomy 21, trisomy 18, and trisomy 13). While women under 35years of age with no other risk factors are considered low risk for pregnancies with aneuploidy, most babies with aneuploidy are born to low-risk women. Across the USA, including Wisconsin, many private insurances do not cover initial NIPT for low-risk women, creating a potential financial burden that may limit patient selection of NIPT. Low-risk women with public insurance in Wisconsin are covered for NIPT. This pilot study determined if a difference exists in NIPT uptake based on insurance type in low-risk pregnant women in their first trimester. It also explored genetic counselor perspectives on how insurance coverage for NIPT is addressed with patients. Women with public insurance were 3.43 times more likely to have NIPT as an initial screen for aneuploidy than women with private insurance, indicating that insurance coverage may present a barrier to care. Additionally, analysis showed no evidence of different demographic variables interacting with another to impact outcome after allowing for insurance coverage (X214 = 14.301, p = 0.428). Our data also suggests that more genetic counselors would recommend NIPT to patients if insurance coverage was not a barrier and were more likely to discuss financial risks associated with NIPT when a patient had private insurance. We conclude that some women cannot choose one of the safest and most sensitive prenatal aneuploidy screening tests due to financial barriers put into place by the lack of insurance coverage.

The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT)

BackgroundNon-invasive prenatal testing (NIPT) allows women to access genetic information about their fetuses without the physical risk inherent to prior testing methods. The advent of NIPT technology has led to concerns regarding the quality and process of informed consent, as a view of NIPT as “routine” could impair women’s considered approach when choosing to undergo testing. Prior studies evaluating NIPT decision-making have focused on the clinical encounter as the primary environment for acquisition of biomedical information and decision formation. While important, this conceptualization fails to consider how additional sources of knowledge, including embodied and empathetic experiential knowledge, shape perceptions of risk and the societal use of NIPT.MethodsIn order to address this issue, qualitative, semi-structured interviews with 25 women who had been offered NIPT were performed. Participants came from a well-resourced, rural setting near a major academic medical center in the US. Women were categorized by NIPT use/non-use as well as whether their described decision-making process was perceived as making a significant decision requiring contemplation (“significant”) versus a rapid or immediate decision (“routinized”). A constructivist general inductive approach was used to explore themes in the data, develop a framework of NIPT decision-making, and compare the perceptions of women with differential decision-making processes and outcomes.ResultsA framework for decision-making regarding NIPT was developed based on three emergent factors: perceptions of the societal use of NIPT, expected emotional impact of genetic information, and perceived utility of genetic information. Analysis revealed that perceptions of widespread use of NIPT, pervasive societal narratives of NIPT use as “forward-thinking,” and a perception of information as anxiety-relieving contributed to routinized uptake of NIPT. In contrast, women who displayed a lack of routinization expressed fewer stereotypes regarding the audience for NIPT and relied on communication with their social networks to consider how they might use the information provided by NIPT.ConclusionsThe findings of this study reveal the societal narratives and perceptions that shape differential decision-making regarding NIPT in the U.S. context. Understanding and addressing these perceptions that influence NIPT decision-making, especially routinized uptake of NIPT, is important as the use and scope of this technology increases.

Implementing Publicly Funded Noninvasive Prenatal Testing for Fetal Aneuploidy in Ontario, Canada: Clinician Experiences With a Disruptive Technology.

The last decade has experienced unprecedented uptake of noninvasive prenatal testing (NIPT), creating significant changes in the way prenatal clinicians provide services. Through the lens of social shaping of technology, we examine the effects of the introduction of this technology on the health care system in Ontario, Canada. Using a qualitative descriptive approach, we conducted a cross-sectional study investigating clinicians' perspectives of NIPT in 2014, 2016, and 2018. Through in-depth interviews (n = 37), we explored their perspectives on the impact of NIPT on their referral practices, workload, coordination of testing modalities, education and counseling, and elicited their views on recent expansions of the test. Findings suggest that the introduction of NIPT has created unintended consequences with respect to clinician workload and wellness, clinician education, equity of access, and public system resources. Responsiveness from decision makers is key to ensuring the responsible use of NIPT in the health care system.

Second tier non-invasive prenatal testing in a regional prenatal diagnosis service unit: a retrospective analysis and literature review.

The Hong Kong Hospital Authority has newly introduced a new Down's syndrome screening algorithm that offers free-of-charge non-invasive prenatal testing (NIPT) to women who screen as high risk. In preparation for this public-funded second tier NIPT service, the present study was conducted to retrospectively analyse women eligible for NIPT and to review the local literature. Our retrospective study included women screened as high risk for Down's syndrome (adjusted term risk ≥1:250) during the period of 1 January 2015 to 31 December 2016. We performed descriptive statistics and multivariable logistic regression to examine the factors associated with women's choice between NIPT and invasive testing. We also reviewed existing local literature about second tier NIPT. The study included 525 women who screened positive: 67% chose NIPT; 31% chose invasive diagnostic tests; and 2% declined further testing. Our literature review showed that in non-research (self-financed NIPT) settings, NIPT uptake rates have been increasing since 2011. Nulliparity, first trimester status, higher education, maternal employment, and conception by assisted reproductive technology are common factors associated with self-financed NIPT after positive screening. Among women choosing NIPT, the rates of abnormal results have typically been around 8% in studies performed in Hong Kong. Implementation of second tier NIPT in the public setting is believed to be able to improve quality of care. We expect that the public in Hong Kong will welcome the new policy.

Women’s choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England

ObjectiveTo evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.MethodWe retrospectively reviewed data for all women...

Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access

The introduction of non-invasive prenatal testing (NIPT) in healthcare systems around the world offers an opportunity to reconsider funding policies for prenatal screening. In some countries with universal access healthcare...

Buying reassurance: uptake of non-invasive prenatal testing among pregnant women of advanced maternal age in China

Despite much ethical debate concerning non-invasive prenatal testing to abort or to detect genes, research on the experience of those who choose this new technology in China is limited, especially after the introduction of the Two-child Policy. In this article I analyse qualitative data from 25 interviews with pregnant women of advanced maternal age (pregnancy after 35) under the Two-child Policy, conducted in 2014 to 2016, as well as observational data from a 6-month, in-hospital participant observation in 2016. These data were collected with the aim to examine how non-invasive prenatal testing affects pregnant women’s risk perceptions and why this technology is widely accepted by pregnant women of advanced maternal age in China. I conclude that the women in my study accepted their ‘high-risk’ identity within prenatal care, and that non-invasive prenatal testing was integrated in this care. Women’s interactions with genetic counsellors, their husbands and close friends and community doctors produced anxieties, with women feeling responsible for the health of their foetuses. Consequently, the women in my study were willing to ‘buy’ this test for reassurance. The consumption of this new technology by pregnant women after the Two-child Policy lays a foundation for the market development of this technology in urban China.

Service provision of non-invasive prenatal testing for Down syndrome in public and private healthcare sectors: a qualitative study with obstetric providers

BackgroundCell-free fetal DNA sequencing based non-invasive prenatal testing (NIPT) for Down syndrome (DS) has become widely available. In Hong Kong, obstetric providers in the public sector refer women identified at high risk of having a child with Down syndrome to obstetric providers in the private sector for NIPT. Little is known about how the NIPT has been adopted in the public sector where DS screening is provided for free of charge. The study aimed to identify the factors influencing providers’ role enactment, such as consultation and referral, in the service provision of NIPT for DS in public and private healthcare sectors.MethodsIn-depth interviews were conducted with 20 obstetric providers offering NIPT in Hong Kong. Thematic narrative analysis was used to identify (i) the factors considered by participants when referring women for NIPT for Down syndrome in public and private healthcare sectors and (ii) their perceptions of the need to integrate NIPT into the current public antenatal service.ResultsParticipants raised concerns about the lack of transparent referral guideline between public and private sectors for NIPT. Public obstetric providers reported little obligation to provide women with much information about risks and benefits of NIPT as it was not provided by public sectors. Some private providers assumed that women referred from the public sector had already received sufficient information about NIPT. The providers were also concerned about potential application of NIPT for further detection without regulation.ConclusionsAlthough the providers had good knowledge of clinical advantages of NIPT over conventional screening, they were uncertain about how to introduce NIPT to women. Guidelines are necessary to enable better coordination of public and private sectors services to enable women to make informed choices about the uptake of NIPT.

Impact of nationwide health insurance coverage for non-invasive prenatal testing.

To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared. Overall, 887 women were included in the study: 573 screens were carried out before (group 1) and 314 after (group 2) the introduction of insurance coverage for NIPT. In group 1, 53 (9.2%) had NIPT as compared with 72 (22.9%) in group 2. Among women with intermediate risk for aneuploidies and basic insurance coverage, NIPT increased by 56% (12/88 [14%] vs 32/46 [70%]; P<0.001). There was a notable increase in the uptake of NIPT; uptake was most significant among women with basic health insurance and intermediate risk foraneuploidy.

EP06.13: International trends in patient samples submitted for non‐invasive prenatal testing (NIPT)

Initially, NIPT using cell-free DNA (cfDNA) was only recommended by professional society guidelines for women at increased risk of fetal aneuploidy. Landmark studies such as the Non-invasive Examination of Trisomy (NEXT) study in 2015 demonstrated superior performance of cfDNA compared to that of traditional first trimester screening in the routine prenatal population. Subsequently, guidelines were updated to recommend offering NIPT to all pregnant women. In this study, we examine trends in patients submitting samples for cfDNA screening to determine whether they reflect a shift towards use of NIPT in lower risk populations. A review of demographic information was performed for specimens submitted to the Ariosa Diagnostics clinical laboratory for the Harmony Prenatal Test® between January 1, 2015 and December 30, 2016. Information from specimens submitted from the United States as well as outside of the United States was included. The proportions of specimens for patients under 35 years of age and patients 35 years and older were compared. In addition, ICD9/10 codes were reviewed for claims made to patient insurance in the same timeframe. There was a significant increase in the proportion of specimens submitted from patients under 35 years of age, from 51.9% in 2015 to 60.0% in 2016 (p <0.01). In addition, billing data demonstrated similar trends with an increasing proportion of specimens from average risk patients in the United States. The proportion of samples submitted to our laboratory by patients under 35 years has significantly increased since January 2015. This suggests a change in clinical practice and increased uptake of NIPT in the average risk population. This trend is likely due to several factors including society guidelines, increasing awareness of the utility of NIPT, and increasing third-party payor coverage. Similar trends were seen in the United States and outside of the United States, supporting broader uptake of NIPT internationally.

A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy.

ObjectiveTo explore women's attitudes towards non‐invasive prenatal testing (NIPT) and determine factors influencing their decisions around uptake of NIPT.MethodWe conducted qualitative interviews to assess knowledge, attitude and deliberation amongst women offered NIPT in a public health service. In total, 45 women took part in telephone interviews (79% participation rate).ResultsMost women could recount the key aspects of NIPT discussed during pre‐test counselling but had variable knowledge about Down syndrome. Analysis of women's attitudes towards undergoing NIPT revealed three dominant factors they considered when reflecting on the test: (1) how NIPT compared with alternative testing options, (2) reflections on coping and (3) moral or religious values. Exploring the deliberative process revealed the different paths women take when making decisions. For some, it was an extension of the decision to have Down syndrome screening; some considered it early on following the booking‐in appointment; others made step‐wise decisions about NIPT when it became relevant to them.ConclusionOur findings support the importance of personalised counselling, whereby women and their partners have the opportunity to reflect on the implications of the test results in the context of their own lives and values. Our data highlight the influence of personal circumstances on decision‐making. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.