A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

Abstract EN

Objective.

Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome.

Incorporating it into routine care is complicated.

We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.

Study Design.

Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation.

Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening.

Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis.

Results.

Counseling and second trimester detailed ultrasound were provided to 163 women.

Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%).

Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, P<0.05).

Conclusion.

When counseled about screening options, women often chose cfDNA over integrated screening.

This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting.

Genetic counseling is an integral part of patient education and determination of plan of care.