Disparities in Integrating Non-invasive Prenatal Testing into Antenatal Healthcare in Australia: a Survey of Healthcare Professionals

Overview

Journal BMC Pregnancy Childbirth

Publisher Biomed Central

Specialty Gynecology & Obstetrics

Date 2024 May 14

PMID 38745131

Authors

Molly Johnston

Lisa Hui

Hilary Bowman-Smart

Michelle Taylor-Sands

Mark D Pertile

Catherine Mills

Affiliations

Soon will be listed here.

Abstract

Background: Non-invasive prenatal testing (NIPT) has been clinically available in Australia on a user-pays basis since 2012. There are numerous providers, with available tests ranging from targeted NIPT (only trisomies 21, 18, and 13 +/- sex chromosome aneuploidy) to genome-wide NIPT. While NIPT is being implemented in the public health care systems of other countries, in Australia, the implementation of NIPT has proceeded without public funding. The aim of this study was to investigate how NIPT has been integrated into antenatal care across Australia and reveal the successes and challenges in its implementation in this context.

Methods: An anonymous online survey was conducted from September to October 2022. Invitations to participate were sent to healthcare professionals (HCPs) involved in the provision of NIPT in Australia through professional society mailing lists and networks. Participants were asked questions on their knowledge of NIPT, delivery of NIPT, and post-test management of results.

Results: A total of 475 HCPs responded, comprising 232 (48.8%) obstetricians, 167 (35.2%) general practitioners, 32 (6.7%) midwives, and 44 (9.3%) genetic specialists. NIPT was most commonly offered as a first-tier test, with most HCPs (n = 279; 60.3%) offering it to patients as a choice between NIPT and combined first-trimester screening. Fifty-three percent (n = 245) of respondents always offered patients a choice between NIPT for the common autosomal trisomies and expanded (including genome-wide) NIPT. This choice was understood as supporting patient autonomy and informed consent. Cost was seen as a major barrier to access to NIPT, for both targeted and expanded tests. Equitable access, increasing time demands on HCPs, and staying up to date with advances were frequently reported as major challenges in delivering NIPT.

Conclusions: Our findings demonstrate substantial variation in the clinical implementation of NIPT in Australia, including in the offers of expanded screening options. After a decade of clinical use, Australian clinicians still report ongoing challenges in the clinical and equitable provision of NIPT.

Citing Articles

Should the scope of NIPT be limited by a 'threshold of seriousness'?.

Taylor-Sands M, Johnston M, Mills C Eur J Hum Genet. 2024; 33(2):189-193.

PMID: 39152297 PMC: 11839980. DOI: 10.1038/s41431-024-01684-x.

References

Minear M, Alessi S, Allyse M, Michie M, Chandrasekharan S . Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues. Annu Rev Genomics Hum Genet. 2015; 16:369-98. DOI: 10.1146/annurev-genom-090314-050000. View

Metcalfe S . Genetic counselling, patient education, and informed decision-making in the genomic era. Semin Fetal Neonatal Med. 2017; 23(2):142-149. DOI: 10.1016/j.siny.2017.11.010. View

Hui L, Halliday J . A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing. Aust N Z J Obstet Gynaecol. 2022; 63(2):264-267. PMC: 10952159. DOI: 10.1111/ajo.13638. View

Ravitsky V, Roy M, Haidar H, Henneman L, Marshall J, Newson A . The Emergence and Global Spread of Noninvasive Prenatal Testing. Annu Rev Genomics Hum Genet. 2021; 22:309-338. DOI: 10.1146/annurev-genom-083118-015053. View

Benachi A, Caffrey J, Calda P, Carreras E, Jani J, Kilby M . Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers. Eur J Med Genet. 2019; 63(1):103616. DOI: 10.1016/j.ejmg.2019.01.006. View

Thomas J, Harraway J, Kirchhoffer D . Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances. Med J Aust. 2021; 215(8):384-384.e1. DOI: 10.5694/mja2.51279. View

Dondorp W, de Wert G, Bombard Y, Bianchi D, Bergmann C, Borry P . Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015; 23(11):1438-50. PMC: 4613463. DOI: 10.1038/ejhg.2015.57. View

Lewis C, Hill M, Chitty L . Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study. PLoS One. 2016; 11(4):e0153147. PMC: 4821600. DOI: 10.1371/journal.pone.0153147. View

Abdalla O, Woods C . Barriers and potential solutions to improve access and equity in prenatal screening for rural women. Aust N Z J Obstet Gynaecol. 2021; 61(3):E22-E23. DOI: 10.1111/ajo.13332. View

10.

Lewis C, Hill M, Skirton H, Chitty L . Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. Eur J Hum Genet. 2015; 24(6):809-16. PMC: 4867447. DOI: 10.1038/ejhg.2015.207. View

11.

Salomon L, Alfirevic Z, Audibert F, Kagan K, Paladini D, Yeo G . ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound Obstet Gynecol. 2014; 44(1):122-3. DOI: 10.1002/uog.13393. View

12.

Hui L, Hyett J . Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia. Aust N Z J Obstet Gynaecol. 2013; 53(5):416-24. DOI: 10.1111/ajo.12117. View

13.

Kristalijn S, White K, Eerbeek D, Kostenko E, Grati F, Bilardo C . Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands. BMC Pregnancy Childbirth. 2022; 22(1):782. PMC: 9585792. DOI: 10.1186/s12884-022-05110-2. View

14.

Cornell P, Armstrong T, Fyfe R, Mallise C, Dudding-Byth T, Campbell L . Experiences of non-invasive prenatal screening: A survey study. Aust N Z J Obstet Gynaecol. 2021; 62(2):241-249. DOI: 10.1111/ajo.13436. View

15.

Bet B, Wielart L, Ravelli A, van Wely M, van Leeuwen E, Pajkrt E . Financial contribution as reason to opt out of non-invasive prenatal testing. Eur J Obstet Gynecol Reprod Biol. 2023; 287:130-136. DOI: 10.1016/j.ejogrb.2023.06.009. View

16.

Long S, OLeary P, Dickinson J . Western Australian women's expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions. J Genet Couns. 2023; 32(5):1047-1056. DOI: 10.1002/jgc4.1715. View

17.

Hui L, Ellis K, Mayen D, Pertile M, Reimers R, Sun L . Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies. Prenat Diagn. 2023; 43(7):814-828. DOI: 10.1002/pd.6357. View

18.

Holloway K, Simms N, Hayeems R, Miller F . The Market in Noninvasive Prenatal Tests and the Message to Consumers: Exploring Responsibility. Hastings Cent Rep. 2022; 52(2):49-57. DOI: 10.1002/hast.1329. View

19.

Bowman-Smart H, Wiesemann C, Horn R . Non-invasive prenatal testing in Germany: a unique ethical and policy landscape. Eur J Hum Genet. 2022; 31(5):562-567. PMC: 10172332. DOI: 10.1038/s41431-022-01256-x. View

20.

van der Meij K, van de Pol Q, Bekker M, Martin L, Gitsels-van der Wal J, van Vliet-Lachotzki E . Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. Eur J Hum Genet. 2022; 31(5):555-561. PMC: 10172316. DOI: 10.1038/s41431-022-01248-x. View