Non-invasive Prenatal Testing in Mitigating Concerns from Invasive Prenatal Diagnostic Testing: Retrospective Assessment of Utility in an Academic Healthcare System in the US

Overview

Journal BMJ Open

Specialty General Medicine

Date 2022 Jun 15

PMID 35705340

Authors

Kibum Kim

Linda Kaitlyn Craft

Affiliations

Soon will be listed here.

Abstract

Objective: Non-invasive prenatal testing (NIPT) is a front-line screening for fatal chromosomal aneuploidy. In pregnant women with a risk of having fetal congenital disorders, NIPT is anticipated to reduce the needs of invasive prenatal diagnostic test (IPD). The objective of this study was to understand the acceptance of NIPT and the utility of NIPT to mitigate concerns about IPD in the US high-risk pregnancy management.

Design And Setting: This was a retrospective observational research using healthcare records obtained from an academic healthcare system in the US. The study consisted of site-level longitudinal analysis and patient-level cross-sectional analysis.

Participant: A total of 5660 new high-risk pregnancies with age ≥35 years were identified for the longitudinal trend analysis. Cross-sectional utility assessment included 2057 pregnant women.

Exposure And Outcome Measures: Longitudinal trends of NIPT order, IPD procedure and the number of patients diagnosed with high-risk pregnancy were descriptively summarised. In the cross-sectional assessment, we tested the association between the use of NIPT and IPD using multivariable regression.

Results: The rate of increase in the NIPT use exceeded the changes in the number of high-risk pregnancies with age ≥35 years, while the number of annual IPD procedures has fluctuated without specific trends. There was no significant association between the numbers of NIPT and IPD with the adjusted ORs between 0.90 and 1.14 (p>0.1). The order of NIPT was not selected as an independent variable predicting the use of IPD. Clinical characteristics indicating low socioeconomic status and limited healthcare coverage are associated with less use of NIPT and lower clinical utility.

Conclusion: Although prenatal care accepted NIPT over the last decade, the utility of NIPT in mitigating concerns on IPD is unclear and needs further investigation. Limited clinical utility should be addressed in the context of disparity in prenatal care.

Citing Articles

A Novel Paradigm for Non-Invasive Prenatal Genetic Screening: Trophoblast Retrieval and Isolation from the Cervix (TRIC).

Hong K, Park H, Jang H, Shim S, Jang Y, Kim S Diagnostics (Basel). 2023; 13(15).

PMID: 37568895 PMC: 10417081. DOI: 10.3390/diagnostics13152532.

References

Persson M, Winkvist A, Mogren I . Lifestyle and health status in a sample of Swedish women four years after pregnancy: a comparison of women with a history of normal pregnancy and women with a history of gestational diabetes mellitus. BMC Pregnancy Childbirth. 2015; 15:57. PMC: 4372034. DOI: 10.1186/s12884-015-0487-2. View

Gadsboll K, Petersen O, Gatinois V, Strange H, Jacobsson B, Wapner R . Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. Acta Obstet Gynecol Scand. 2020; 99(6):722-730. DOI: 10.1111/aogs.13841. View

Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B . Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2013; 33(7):622-9. DOI: 10.1002/pd.4139. View

Derridj N, Bonnet D, Calderon J, Amedro P, Bertille N, Lelong N . Quality of Life of Children Born with a Congenital Heart Defect. J Pediatr. 2022; 244:148-153.e5. DOI: 10.1016/j.jpeds.2022.01.003. View

Lesko L, Zineh I, Huang S . What is clinical utility and why should we care?. Clin Pharmacol Ther. 2010; 88(6):729-33. DOI: 10.1038/clpt.2010.229. View

Vinante V, Keller B, Huhn E, Huang D, Lapaire O, Manegold-Brauer G . Impact of nationwide health insurance coverage for non-invasive prenatal testing. Int J Gynaecol Obstet. 2017; 141(2):189-193. DOI: 10.1002/ijgo.12422. View

Park S, Jang I, Lee M, Kim Y, Chun S, Park M . Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy. Obstet Gynecol Sci. 2016; 59(5):357-66. PMC: 5028642. DOI: 10.5468/ogs.2016.59.5.357. View

Quinn B . Payers and the assessment of clinical utility for companion diagnostics. Clin Pharmacol Ther. 2010; 88(6):751-4. DOI: 10.1038/clpt.2010.234. View

Minear M, Lewis C, Pradhan S, Chandrasekharan S . Global perspectives on clinical adoption of NIPT. Prenat Diagn. 2015; 35(10):959-67. PMC: 5065727. DOI: 10.1002/pd.4637. View

10.

LeFevre N, Sundermeyer R . Fetal Aneuploidy: Screening and Diagnostic Testing. Am Fam Physician. 2020; 101(8):481-488. View

11.

Quinlan T, Schroeder B, Kwon S, Barlow J, Sherman M, Anderson H . Economic Impact of Coverage Expansion for Non-invasive Prenatal Testing Through a Performance-Based Risk-Sharing Agreement. Pharmacoecon Open. 2021; 5(3):449-458. PMC: 7944877. DOI: 10.1007/s41669-021-00261-y. View

12.

. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007; 109(1):217-27. DOI: 10.1097/00006250-200701000-00054. View

13.

Peyvandi S, Baer R, Chambers C, Norton M, Rajagopal S, Ryckman K . Environmental and Socioeconomic Factors Influence the Live-Born Incidence of Congenital Heart Disease: A Population-Based Study in California. J Am Heart Assoc. 2020; 9(8):e015255. PMC: 7428546. DOI: 10.1161/JAHA.119.015255. View

14.

Hui L, Hutchinson B, Poulton A, Halliday J . Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy. Genet Med. 2017; 19(12):1338-1345. DOI: 10.1038/gim.2017.55. View

15.

Goudie A, Martin B, Li C, Lewis K, Han X, Kathe N . Higher Rates of Preventive Health Care With Commercial Insurance Compared With Medicaid: Findings From the Arkansas Health Care Independence "Private Option" Program. Med Care. 2019; 58(2):120-127. DOI: 10.1097/MLR.0000000000001248. View

16.

Raskind-Hood C, Saraf A, Riehle-Colarusso T, Glidewell J, Gurvitz M, Dunn J . Assessing Pregnancy, Gestational Complications, and Co-morbidities in Women With Congenital Heart Defects (Data from ICD-9-CM Codes in 3 US Surveillance Sites). Am J Cardiol. 2020; 125(5):812-819. PMC: 7493054. DOI: 10.1016/j.amjcard.2019.12.001. View

17.

van der Steen S, Houtman D, Bakkeren I, Galjaard R, Polak M, Busschbach J . Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients' test uptake. Eur J Hum Genet. 2018; 27(2):235-243. PMC: 6336774. DOI: 10.1038/s41431-018-0287-z. View

18.

Geelhoed E, Bebbington A, Bower C, Deshpande A, Leonard H . Direct health care costs of children and adolescents with Down syndrome. J Pediatr. 2011; 159(4):541-5. PMC: 3858577. DOI: 10.1016/j.jpeds.2011.06.007. View

19.

Persson M, Pasupathy D, Hanson U, Westgren M, Norman M . Pre-pregnancy body mass index and the risk of adverse outcome in type 1 diabetic pregnancies: a population-based cohort study. BMJ Open. 2012; 2(1):e000601. PMC: 3282288. DOI: 10.1136/bmjopen-2011-000601. View

20.

Kuhle S, Muir A, Woolcott C, Brown M, McDonald S, Abdolell M . Maternal pre-pregnancy obesity and health care utilization and costs in the offspring. Int J Obes (Lond). 2018; 43(4):735-743. PMC: 6484728. DOI: 10.1038/s41366-018-0149-3. View