Profile of women choosing the Harmony® Prenatal Test

ABSTRACT

Introduction: The Harmony® Prenatal Test, a noninvasive cell-free DNA (cfDNA) method for major trisomies has been available since January 2013 at our unit, and tests were sent to the Ariosa Clinical Laboratory Improvement Amendments (CLIA) laboratory in California. From July 2017 onward, prenatal cfDNA has been reimbursed in Belgium for all pregnancies; however, since then samples are sent to a local laboratory. Little data are available on patient’s profile and choices toward cfDNA and on the performance of local technology transfer centers.

Areas covered: The profiles and choices of women regarding this test were evaluated. Further, the performance of cfDNA at the local laboratory was compared to the one in California. Our results showed that women from the Netherlands, as compared to Belgium, were more likely to undergo cfDNA testing for maternal request and would be less likely to undergo karyotyping if cfDNA were unavailable, therefore are better candidates for cfDNA testing, when this is used as first-line screening.

Expert commentary: Our findings highlight the importance of conducting these types of studies, before decisions about clinical implementation are made by national governments and ministries of health.

KEYWORDS:

• Cell-free DNA
• patient’s profile
• technology transfer
• fetal fraction
• trisomy

Declaration of interest

J de Marchin is an employee of Labocita, Citadelle Hospital, Liège, Belgium. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

A reviewer on this manuscript discloses that their laboratory runs NIPT in Singapore.

Additional information

Funding

The Fetal Medicine Foundation Belgium and the Brugmann Foundation partly funded this study; however, these funding agencies had no role in the study design, data gathering, data analysis, data interpretation, or writing of the report.