Prenatal screening in the era of non-invasive prenatal testing: a Nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice

Abstract

Background Non-invasive prenatal testing (NIPT) has revolutionized the prenatal screening landscape with its high accuracy and low false positive rate for detecting Trisomy 21, 18 and 13. Good understanding of its benefits and limitations is crucial for obstetricians to provide effective counselling and make informed decisions about its use. This study aimed to evaluate obstetrician knowledge and attitudes regarding NIPT for screening for the common trisomies, explore how obstetricians integrated NIPT into first-line and contingent screening, and determine whether expanded use of NIPT to screen for sex chromosome aneuploidies (SCAs) and microdeletion/microduplication syndromes (CNVs) was widespread. Methods A questionnaire was designed and administered with reference to the CHERRIES criteria for online surveys. Doctors on the Obstetrics & Gynaecology trainee and specialist registers were invited to participate. Medians and 95% confidence intervals (CI) were reported for confidence and knowledge scores. Results 94/306 (30.7%) doctors responded to the survey. First trimester screening (FTS) remained the main method offered to screen for the common trisomies. 45.7% (43/94) offered NIPT as an alternative first-line screen for singletons and 30.9% (29/94) for monochorionic diamniotic twins. A significant proportion offered concurrent NT and NIPT (25/94, 26.6%), or FTS and NIPT (33/94, 35.1%) in singletons. Varying follow up strategies were offered at intermediate, high and very-high FTS risk cut-offs for Trisomy 21. Respondents were likely to offer screening for SCAs and CNVs to give patients autonomy of choice (53/94, 56.4% SCAs, 47/94, 50% CNVs) at no additional cost (52/94, 55.3% SCAs, 39/94, 41.5% CNVs). Median clinical knowledge scores were high (10/12) and did not differ significantly between specialists (95% CI 10–11) and non-specialists (95% CI 9.89–11). Lower scores were observed for scenarios in which NIPT would be more likely to fail. Conclusions Our findings show the diversity of clinical practice with regard to the incorporation of NIPT into prenatal screening algorithms, and suggest that the use of NIPT both as a first-line screening tool in the general obstetric population, and to screen for SCAs and CNVs, is becoming increasingly prevalent. Clear guidance and continuing educational support are essential for providers in this rapidly evolving field.

False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?

“…Having discussed all the problems of NIPT, for individual settings and considering the ethical considerations under which each human genetic counsellor (MD or non-MD) is trained, it is really hard to understand that actual papers start with sentences like: “NIPT has revolutionized the approach to prenatal diagnosis and, to date, it is the most superior screening method for the common autosomal aneuploidies” [ 53 ]; or with: “our findings show the diversity of clinical practice with regard to the incorporation of NIPT into prenatal screening algorithms, and suggest that the use of NIPT both as a first-line screening tool in the general obstetric population, and to screen for SCAs and CNVs, is becoming increasingly prevalent” [ 54 ]. There is an urgent need to come back to the couple, patient and unborn child perspective and away from cost and profit argumentations.…”

Knowledge, attitudes, and practices of healthcare professionals working in prenatal diagnosis toward expanded non‐invasive prenatal testing in China

“…Several other studies have shown that clear guidance and continuing educational support are necessary for healthcare providers in this rapidly evolving area. [42][43][44][45][46]…”

“…Furthermore, for previous KAP surveys of NIPT, most of the respondents were obstetricians. 42,44,45,47 Considering that NIPT is primarily associated with prenatal diagnosis, our survey was completed by a wide range of HCPs working in prenatal diagnosis. This included HCPs of different specialties, years of practice, education levels, and hospital workplaces.…”

Does an educational video for aneuploidy screening improve informed choice among pregnant women? A randomised controlled trial

“…This is following recommendations from the American College of Obstetricians and Gynaecologists in 2020 8 . NIPS is offered as a primary screening test option to all women in Singapore 9 . This is, however, self‐funded, in contrast to countries, such as Belgium where NIPS is publicly funded 10 .…”

“… 8 NIPS is offered as a primary screening test option to all women in Singapore. 9 This is, however, self‐funded, in contrast to countries, such as Belgium where NIPS is publicly funded. 10 Despite its relatively high‐cost ranging from Singapore Dollar (SGD) 1100 to SGD 2500, 11 the high sensitivity of NIPS at 99% as well as the non‐invasive nature of the test still makes it an attractive and acceptable option to pregnant women.…”