Our search identified 65 articles that met inclusion criteria (see Table 1), of which two thirds (64.6%, n = 42) of studies used quantitative research methods (see Table 2). Studies spanned research conducted across 38 countries and 1 special administrative region, with the greatest number of unique research studies conducted in the United States (n = 19, 29.2%), followed by the United Kingdom (n = 14, 21.5%), the Netherlands (n = 9, 13.8%) and Canada (n = 8, 12.3%). Data from a collective total of 9,971 participants was reported across all studies. Participants worked across at least 12 professions, primarily as obstetricians (OBs) and gynecologists (n = 3663, 36.7%), midwives (n = 2171, 21.8%), genetic counselors (GCs; n = 1838, 18.4%) and maternal fetal medicine specialists (MFMs; n = 721, 7.2%). Eleven key categories emerged from the literature: 1) how HPs offer NIPT; 2) views and experiences on the provision of pre-test counseling; 3) views and experiences on the provision of post-test counseling; 4) physician education and training; 5) the perceived association between NIPT and abortion; 6) views on genome-wide sequencing; 7) views on specific uses of NIPT; 8) perceived benefits and challenges for NIPT users; 9) perceived impact on people with disabilities; 10) cost and insurance and 11) views on regulation. Effort was made to reflect the language and scope used by HPs in a given article in the categorisation of results. The categories and sub-categories reported below are thus not necessarily mutually exclusive. For example, while microdeletions and microduplications may be considered part of expanded NIPT, they are categorised separately below to best reflect the language and scope conveyed in included literature.

Table 1 Publications included for analysisTable 2 Demographic information of included publicationsOffering NIPTSelf-reported factors influencing the decision to offer NIPT

Healthcare professionals across Europe, the USA, China and the Philippines reported their decision to offer NIPT was influenced by recommendations and guidelines of professional associations (Benachi et al. 2020; Haymon et al. 2014; Musci et al. 2013; Panes & Javier 2020; Sayres et al. 2011; Wei et al. 2020). Healthcare professionals in France were the exception, whose use of NIPT was not strongly influenced by local or international association guidelines (Benachi et al. 2020). American OBs and MFMs additionally reported published clinical data and insurance coverage as factors influencing NIPT adoption (Haymon et al. 2014; Musci et al. 2013; Sayres et al. 2011). Insufficient published clinical data, cost or lack of insurance coverage and disinterest among pregnant people were similarly noted as factors by Filipino OBs (Panes & Javier 2020). Private genetic testing companies were also indicated to be a key reason for offering NIPT among Chinese OBs (Wei et al. 2020). Most New Zealand OBs reported their personal attitudes or beliefs about antenatal screening did or would not affect their decision to offer NIPT (74.%, n = 90) but that their knowledge about NIPT would (70.3%, n = 85) (Filoche et al. 2017).

American GCs in one study indicated that their institution decided whether or not NIPT would be offered. Perceived institutional reasons for offering NIPT included the view that all testing options should be available to all pregnant people, NIPT as a good alternative to invasive testing, perceived demand and the need to stay competitive (Horsting et al. 2014). A study of NIPT use among Chinese OBs similarly reported that NIPT adoption by other physicians and potential hospital competition might increase test uptake (Wei et al. 2020).

Indications for offering NIPT

Healthcare professionals’ views and practices on to whom should be offered NIPT were varied. Most HPs were supportive of offering NIPT to high risk individuals (Alexander et al. 2015). Nearly all (94.1%) of American GCs (Buchanan et al. 2014) and half (45%) of Filipino OBs (Panes & Javier 2020). offered NIPT to pregnant people they considered to be high risk. European healthcare providers reported consistently offering (78–95%) or actively recommending (62%-90%) NIPT to people with high risk pregnancies (Benachi et al. 2020). High risk indicators included advanced maternal age, abnormal ultrasound findings, positive maternal serum screening (MSS), repeated spontaneous abortion and a personal or family history of chromosome abnormalities (Benachi et al. 2020; Buchanan et al. 2014; Filoche et al. 2017; Haymon et al. 2014; Horsting et al. 2014; Zhai et al. 2016). Nearly half (46.3%, n = 19) of the HPs in one multi-country study reported offering NIPT exclusively to people with high risk pregnancies (Minear et al. 2015) compared to just 11.9% of American OBs who believed NIPT should be exclusively offered to those who were high risk (Musci et al. 2013). British GCs expressed the view that high risk pregnancies among those with a family history of a condition should be provided NIPT in a genetics setting, most (60%, n = 12) believed increasingly routine use of NIPT would inevitably mean the responsibility of offering testing would fall to midwives due to genetic counseling resource constraints (Alexander et al. 2015). Some (15%) American and Canadian GCs recommended NIPT following a mosaic embryo transfer (Moran et al. 2023). American GCs (73%) also noted that NIPT was often offered when people with high risk pregnancies declined invasive diagnostic testing (Haymon et al. 2014).

While the majority (71.8%) of American OBs in 2017 supported offering NIPT to all pregnant people regardless of age or risk status (Brewer et al. 2017). More than half (55.4%) of Dutch midwives in a 2017 study similarly felt it was unacceptable not to offer NIPT to everyone (Martin et al. 2018). In a 2012 study, over a third (35.9%) of Japanese HPs believed that NIPT should be available to all pregnant people (Yotsumoto et al. 2012). A fifth (19.5%, n = 8) of HPs similarly supported universal access in a 2015 global study (Minear et al. 2015). In a 2016 survey of American GCs, 44.7% (n = 85) supported universal access but only 11.5% (n = 22) offered it to all who presented for prenatal care (Suskin et al. 2016). Rates of offering NIPT to all pregnant women were significantly lower than rates of support for universal access. In 2014, approximately 5% of American MFMs (Haymon et al. 2014) and between 1.7% to 3.9% of American GCs offered NIPT to all pregnant people (Buchanan et al. 2014; Horsting et al. 2014). When asked whether professional association guidelines should be updated to include NIPT as a screening option for pregnant people of any risk status in 2017, 87.4% of American OBs supported this (Brewer et al. 2017). American GCs' reasons for supporting universal access to NIPT included the perception that NIPT was superior to other available screening tests and satisfaction with test validation studies in low-risk populations (Suskin et al. 2016). The most common reason for offering NIPT to all amongst American OBs in 2017 was the detection of Down syndrome (Brewer et al. 2017). Common reasons for not providing NIPT to all pregnant people included lack of validation and lower test performance in low risk populations as well as insufficient provider education or understanding and lack of understanding among potential test users (Suskin et al. 2016).

Almost all OBs (96%) in a 2015 Australian and New Zealand study indicated they were willing to offer NIPT for low risk pregnancies (Hui et al. 2015). American GCs also reported offering NIPT to people with low risk pregnancies who presented too late for other screening tests or were unable to use other prenatal screens in 2016 (Suskin et al. 2016). Between 5 to 29% of European HPs in 2020 were likely to recommend NIPT for low risk pregnancies, with lowest percentages being in the UK and France and the highest in Germany and Italy (Benachi et al. 2020). Some American GCs in 2018 viewed the expansion of NIPT to low risk pregnancies to be problematic as it necessitated major changes in clinical practice, particularly in relation to pre and post-test counseling (Agatisa et al. 2018).

Requests by the pregnant person were also reported as an indicator for providing NIPT by some HPs. Almost all (93%, n = 109) OBs in a New Zealand study accounted for such requests when considering offering NIPT (Filoche et al. 2017). Almost half (55.3%) of American MFMs reported offering NIPT when specifically requested (Haymon et al. 2014). American GCs in a 2018 qualitative study reported that they considered a pregnant person’s autonomy to be the final determinant in offering NIPT and thus would support people with low risk pregnancies to access the test should they request it (Agatisa et al. 2018). More than a third (37.8%, n = 76) of GCs in another American study similarly would provide NIPT for people with low risk pregnancies at their request (Suskin et al. 2016). A minority of American GCs in a 2014 study (1.7%)(Buchanan et al. 2014) and HPs in a global study in 2015 (14.6%, n = 6) (Minear et al. 2015) reported offering NIPT only to those who requested it.

Use of NIPT in context of other prenatal testsViability scans

Viability scans are commonly undertaken at 6–10 weeks gestation to determine whether a pregnancy is developing normally. Viability scans are able to detect some circumstances in which a pregnancy would not be viable, such as tubal ectopic pregnancies or the absence of a fetal heart activity. Several Australian HPs in a 2020 study reported examples of NIPT being conducted without a viability scan, (McKinn et al. 2022) indicating the possibility of NIPT being undertaken for non-viable pregnancies.

NIPT as a first-line screening test

Many HPs reported that NIPT was already being used as a first-line screening test or that they believed it would soon be used as such (Birko et al. 2019; Horsting et al. 2014; Johnston et al. 2024). Dutch HPs thought replacing first trimester screening with NIPT would be advantageous, making the explanation of test procedures easier and simplifying pre-test counseling (Martin et al. 2018; Tamminga et al. 2015; Van Schendel et al. 2017). Other HPs believed that NIPT should or would replace MSS (Benachi et al. 2020; Haymon et al. 2014). Perceived advantages of NIPT over combined first trimester screening (CFTS) included increased accuracy, (Gammon et al. 2016) sensitivity and specificity (Agatisa et al. 2018). While many HPs in Hong Kong, Italy and the USA viewed NIPT as a first-line screening test, (Benachi et al. 2020; Brewer et al. 2017; Yi et al. 2015) other HPs in the USA and Europe did not typically offer NIPT as a first-line screen (Benachi et al. 2020; Suskin et al. 2016).

Many HPs emphasised the importance of continuing to offer an 11–13 week ultrasound alongside NIPT as a first-line screening test (Eastwood A. et al., 2016; Filoche et al. 2017; Hui et al. 2015; Martin et al. 2018; Suskin et al. 2016; Tamminga et al. 2015). Reasons for providing 11–13 week ultrasounds alongside NIPT included the detection of structural anomalies, prediction of adverse obstetric outcomes, such as pre-eclampsia, and parental reassurance (Hui et al. 2015). UK GCs in 2015 also reported reassurance for themselves arising from the use of an ultrasound (Alexander et al. 2015).

NIPT as a second-line screening test

Healthcare professionals in multiple studies considered offering NIPT as a second-line prenatal screening test as appropriate (Birko et al. 2019; Dettwyler et al. 2019; Martin et al. 2018). The use of NIPT as a second-line screen was viewed positively as it provided greater accuracy when compared to other screening tests but avoided the miscarriage risk associated with diagnostic testing (Dettwyler et al. 2019). Most (73%—95%) European HPs in a 2020 were likely to recommend NIPT following an abnormal screening result (Benachi et al. 2020). Many HPs in a 2020 study in Singapore indicated they would offer NIPT following positive first trimester screening results for Trisomy 21 (Yang & Tan 2020). Fewer (24.5%) HPs in Hong Kong viewed NIPT as a second-line screen (Yi et al. 2015). A minority (22%, n = 53) of Dutch HPs in 2015 thought that NIPT should be offered following high chance CFTS (Tamminga et al. 2015).

Diagnostic testing

Diagnostic testing was primarily offered to pregnant people following a positive NIPT result (Benachi et al. 2020; Haymon et al. 2014; Swaney et al. 2016). One Canadian study in 2018 found that MFMs (96.6%) and OBs (91.2%) were more likely to offer invasive testing following a positive NIPT result compared to GPs (77.4%) and midwives (78.6%) (Chan et al. 2018).

Some HPs viewed NIPT as a substitute for diagnostic testing, with 47.9% of American OBs in a 2014 study indicating they would consider NIPT as a complete substitute for invasive testing in instances of high chance CFTS results for Trisomy 21 (Benn et al.