How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature

Abstract

Introduction: Carrier screening for recessive disorders is undertaken by prospective parents to inform their reproductive decisions. With the growing availability of affordable and comprehensive expanded carrier screening (ECS), it is expected that carrier screening will become a standard practice in the future. However, the impact of positive carrier screening results on the reproductive decisions of at-risk couples (ARCs) remains underexplored. Areas covered:We performed a systematic literature review to identify peer-reviewed publications describing reproductive decisions of ARCs. Our search identified 19 relevant publications spanning the period 1994 -2018. By synthesizing available evidence, we found that most ARCs chose to prevent the birth of an affected child and the decision to utilize preventive reproductive options was strongly influenced by the clinical nature of a disorder.However, there was also some heterogeneity in reproductive decisions within the same recessive disorders, suggesting that choices of ARCs can be influenced by factors other than the clinical nature of a disorder.Expert opinion: ECS is becoming increasingly common, which will result in the routine identification of many ARCs. Reproductive decision-making by ARCs is a complex and emotionally challenging process, highlighting the critical role of genetic counseling in the care for these potentially vulnerable patients.

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

“…Measuring informed choice has, however, proven difficult, especially since there seems to be no consensus on the best methodology for the evaluation of informed decision-making. To shed more light on how screening results impact the reproductive choices of carrier couples, studying longer-term outcomes can provide helpful insights (Cannon et al 2019 ), but similar to neonatal screening, it is not easy to follow these couples over time.…”

“…However, carrier screening does not replace NBS, nor does NBS diminish the potential benefit of carrier screening (ACOG 2017 ). NBS is still important, as often a screening test will not detect all carriers, and not all prospective parents will decide to participate (Stafler et al 2016 ) or act on their screening results (Cannon et al 2019 ).…”

The Core Outcome Development for Carrier Screening (CODECS) Study: Protocol for Development of a Core Outcome Set

“…Those reviews that address data analysis and risk of bias in their methods, identi ed issues with outcome heterogeneity, study design, and overall quality of evidence, whilst others that didn't speci cally address these issues performed narrative syntheses, which is indicative that a meta-analysis was not possible with the available data. (23,(25)(26)(27)(28) We propose developing a core outcome set (COS) for RGCS. A COS is an agreed minimum set of outcomes that should be measured and reported in all studies on a particular topic.…”

Population-based Expanded Carrier Screening reporting couple results only: a mixed methods approach

“…Earlier studies demonstrated that carrier screening for (mainly) single, or a few conditions is not associated with major adverse psychological reactions and initial feelings of psychological distress mostly dissipate over time (64). A recently published review on reproductive decisions for those identified as carrier couples demonstrates that most couples decide to change their reproductive plans to avoid conceiving a child with a severe genetic condition (150).…”

“…However, one should be aware that this may lead to false reassurance if couples do not understand the residual risk or that ECS does not guarantee future children will not have genetic conditions (38). A recently published review on reproductive decisions for those identified as carrier couples demonstrates that most couples decide to change their reproductive plans to avoid conceiving a child with a severe genetic condition (150). Due to the (expected) absence of test-positive results, I could not investigate this nor was that my aim.…”