Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.

Background: Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies and telegenetic services offer potential solutions for efficient results delivery and genetic counseling. Introduction: All major guidelines recommend patients with both negative and positive results be counseled. The main objective of this study was to quantify patient utilization, motivation for posttest counseling, and satisfaction of a technology platform designed for large-scale dissemination of NIPS results. Methods: The technology platform provided general education videos to patients, results delivery through a secure portal, and access to telegenetic counseling through phone. Automatic results delivery to patients was sent only to patients with screen-negative results. For patients with screen-positive results, either the ordering provider or a board-certified genetic counselor contacted the patient directly through phone to communicate the test results and provide counseling. Results: Over a 39-month period, 67,122 NIPS results were issued through the platform, and 4,673 patients elected genetic counseling consultations; 95.2% (n = 4,450) of consultations were for patients receiving negative results. More than 70% (n = 3,370) of consultations were on-demand rather than scheduled. A positive screen, advanced maternal age, family history, previous history of a pregnancy with a chromosomal abnormality, and other high-risk pregnancy were associated with the greatest odds of electing genetic counseling. By combining web education, automated notifications, and telegenetic counseling, we implemented a service that facilitates results disclosure for ordering providers. Discussion: This automated results delivery platform illustrates the use of technology in managing large-scale disclosure of NIPS results. Further studies should address effectiveness and satisfaction among patients and providers in greater detail. Conclusions: These data demonstrate the capability to deliver NIPS results, education, and counseling-congruent with professional society management guidelines-to a large population.

Beyond the first trimester screen: can we predict who will choose invasive testing?

PURPOSE: The purpose of this study is to determine what factors, in addition to a positive first trimester aneuploidy screen, correlate with a pregnant patient's decision to undergo invasive prenatal testing. METHODS: We conducted a retrospective cohort study of singleton pregnancies referred to the Johns Hopkins Prenatal Diagnosis and Treatment Center between 2001 and 2009 with an indication of positive first trimester screen. We compared demographic factors and numerical first trimester screen results with invasive testing uptake. Risk difference calculations and linear modeling were used for analysis. RESULTS: A total of 171 eligible patients were identified. Maternal age, race, residual risk, marital status, and year of first trimester screen correlated significantly with invasive testing uptake. Family history was predictive of invasive testing uptake for patients younger than 35 years only. Type of elevated risk (trisomy 21 vs. 18 and 13), assisted reproductive technology status, parity, and increase from age-related risk were not predictive. A general linear model for relative risk with Gaussian error showed significant interaction between the variables of age and family history, so the two traits were analyzed separately (P = 0.009). CONCLUSIONS: Among patients with positive first trimester screen results, several demographic traits are predictive of invasive testing uptake. This information can help providers to identify patients at increased risk of declining invasive testing and can help providers anticipate educational needs. Further investigation should be conducted to elucidate the causes of these differences, which may relate to misinformation about the testing options and differences in values systems.