Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?

Ruth M Farrell,Madelyn Pierce,Mary Lintel,Uma Perni,Edward K Chien,Meng Yao,Susannah S Rose,Christina Collart,Brownsyne Tucker Edmonds,Marissa Coleridge

doi:10.1186/s12884-021-04282-7

Ruth M Farrell, Madelyn Pierce + Show 8 more

Open Access

https://doi.org/10.1186/s12884-021-04282-7

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Abstract

BackgroundPrenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS.MethodsA self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process.ResultsParticipants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions.ConclusionPatients’ baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients’ decision-making commensurate with advances in prenatal genomics.

Highlights

Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery
Higher knowledge levels were noted for autosomal aneuploidies, with 62.2% of patients correctly identifying AS identified the risk of trisomy 21, 48.8 and 42.3% correctly identified the inclusion of trisomy 18, and trisomy 13
Lower knowledge levels were noted for conditions associated with CS compared to AS: 43.8% were familiar with cystic fibrosis, 39.3% with sickle cell anemia, 33.8% with spinal muscular atrophy, and 26.4% with thalassemia

Summary

Introduction

Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guideline changes have led to a large increase in the number of patients offered these screens during pregnancy, universal screening approaches that have expanded upon previous age-based or ethnicity-based screening approaches [2–4]. It is necessary more than ever, to develop effective approaches to ensure that patients can best make informed and preference-based decisions about their use. CS focuses on identifying heritable genetic mutations that are present in the pregnant woman and can be passed to the offspring [2] As conditions such as cystic fibrosis are heritable, the results of CS may impact decisions about the current pregnancy and any future reproductive decisions [10–14]

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