Genetic Testing

Technology-Driven Prenatal Screening Results

Obstetrics & Gynecology

Aishwarya Arjunan, MS, MPH, CGC; Rotem Ben-Shachar, PhD; Jamie Kostialik, MS, CGC; Katie Johansen Taber, PhD; Elizabeth Denne, MS, CGC; and Carrie Haverty, MS, CGC


Non-invasive prenatal screening (NIPS) and expanded carrier screening (ECS) have widened the scope of information available to patients and providers alike, underscoring the importance of timely results delivery. We describe an automated system utilizing online education and tele-genetic counseling to aid women's health professionals in effectively delivering genetic testing results.


Providers are notified upon availability of results. For ECS resultsindicating a high reproductive risk, patients receive an automated email directing them to schedule a consultation with a laboratory-based genetic counselor. Screen-positive NIPS results are delivered to the ordering provider, who may request that a laboratory-based genetic counselor contact the patient. All other results can be viewed directly by the patient in an online portal with educational resources. Regardless of result type, patients can speak to a genetic counselor, either on-demand or by scheduling an appointment. This study was IRB exempt.


Through December 2017, 278,318 ECS results and 67,122 NIPS results were issued via the system. Of these, 41,050 patients (15%) ECS patients and 4,673 (7%) NIPS patients elected genetic counseling, resulting in a total of 47,793 consultations. A number of patients electing genetic consultations received negative results (∼50% ECS, 95% NIPS). Patients frequently utilized on-demand services (32% ECS, 70% NIPS). Median consultation duration times were ten minutes and nine minutes for ECS and NIPS results, respectively.


We describe a system that can provide large-scale prenatalgenetic testing results delivery, education, and counseling congruent with clinical guidelines; imperative to quality care as uptake grows among the obstetric population.

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