Clinical Utility of Non-Invasive Prenatal Testing (NIPT) in Mitigating Concerns from Invasive Prenatal Diagnostic Testing (IPD)

ABSTRACT

Objective:

To evaluate if Non-Invasive Prenatal Testing (NIPT) is associated with the use of Invasive Prenatal Diagnostic Testing (IPD) and to assess patient characteristics that lead to performing NIPT and IPD.

Methods:

This was a single-site retrospective observational research consisting of (1) site-level longitudinal analysis and (2) patient-level cross-sectional analysis. For the site-level analysis, the trends of NIPT, IPD, and unique high-risk pregnancies between 2012 and 2018 were descriptively compared. Study cohort for the patient-level analysis included women with a diagnosis of high-risk pregnancy between October 2015-December 2018. Clinical characteristics and demographics were compared for the group of patients who received NIPT vs. no-NIPT and IPD vs. no-IPD. Whether NIPT is associated with a significant decrease in IPD was tested in the regression model selection process.

Results:

A total of 11,562 new high-risk pregnancies were identified between 2012-2018. The rate of annual NIPT increase exceeded the change in the number of high-risk pregnancies while the number of IPD fluctuated without specific trends. The patient-level analytic cohort consisted of 2,057 women 35 or older with a diagnosis of a high-risk pregnancy. NIPT (n=551) group was dominated by commercially insured patients compared to no-NIPT (n=1,506) group (99.3 vs. 79.4%, p<0.01). Pregnant women who received IPD (n=56) significantly differed from those who did not (n=2,001) in the proportion of commercial-insurance enrollment (94.64% vs., 84.46, p=0.04) and age (<40 years, 66.1% vs. 83.3%, p<0.01). NIPT order was not selected as an independent variable to predict the use of IPD.

Conclusion:

Although clinical practice has acknowledged the value of NIPT, the utility of NIPT in mitigating concerns on IPD use is still unclear and will need further investigation. Our study confirmed there was a disparity gap in access to prenatal screening and diagnostics, which further limits the utility of NIPT and other prenatal management strategies.