Is preparation a good reason for prenatal genetic testing? Ethical and critical questions

Abstract

As prenatal genetic testing technologies have become both easier and more accessible, women are increasingly choosing prenatal genetic testing for a reason that is largely unexamined in the clinical literature: preparation. This reasoning, offered not only from pregnant women but frequently from testing laboratories and health care providers, reflects long‐held assumptions that prenatal genetic results—properly delivered and followed with information, clinical surveillance, and/or social supports—prepare families for a child with a genetic condition, and even improve health and social outcomes for children and families. But these assumptions remain unexamined, since there are no clear definitions or recommendations for prenatal preparation. Preparation may refer to several overlapping ways in which prenatal information may change parents' approach to the rest of the pregnancy, including: (a) clinical activities, including surveillance, interventions, and delivery planning; (b) social and informational support, such as interacting with patient support groups and gathering information about quality of life; and (c) psychological “coping” or adjustments to the reality of raising a child with a genetic condition. These meanings and activities intersect and influence one another and form a foundation for postnatal family adaptation, but they are rarely parsed out in studies examining the impact of prenatal diagnosis. Based on previous work delineating conceptual models as middle terms between theory and reality, we are building a conceptual model that incorporates an empirical understanding of meanings and actions encompassed by prenatal preparation. Comparing diverse families' expectations with the resources they are offered can identify (mis)matches between priorities and approaches.

Discussing non‐invasive prenatal testing on Reddit: The benefits, the concerns, and the comradery

“…Confirming the findings from other studies with different methodologies, NIPT as discussed on Reddit is seen as providing valuable means of obtaining highly sought‐after information (including early detection of sex) in a manner that is better than other tests 42,43 . Redditors not only acknowledge the value of NIPT as providing “peace of mind,” but some state how NIPT helps support their mental and organizational preparation when making difficult pregnancy decisions, including for a range of birthing outcomes 7,44,45 …”

“…42,43 Redditors not only acknowledge the value of NIPT as providing "peace of mind," but some state how NIPT helps support their mental and organizational preparation when making difficult pregnancy decisions, including for a range of birthing outcomes. 7,44,45 Redditors, however, also raise some concerns. These include anxieties that result from testing, difficulties accessing NIPT (ie, not having costs covered by insurance plans), the accuracy of NIPT results, confusion surrounding the interpretation of NIPT results, and the assistance provided by health entities regarding accessing the test and assisting with the interpretation of findings.…”

Prenatal Testing – What Is It Good For? A Review and Critique

“…A common reason for women to undergo prenatal testing is to have emotional, psychological, and medical preparation if the baby has Down syndrome or other condition [91], a justification I frequently heard during my 22 years working as a genetic counselor in a busy prenatal diagnosis clinic. Interestingly, one study reported that most women who chose to continue a pregnancy with Down syndrome experienced an increase in anxiety during the pregnancy, although many women said they if they could do it over, they would still choose to undergo prenatal diagnosis again [92].…”

“…It is also unclear what emotional benefits families obtain from foreknowledge of an affected child via prenatal testing. While many women undergo testing for emotional preparation, there is no proven measurable and concrete benefit [91]. Such empirical data would be very helpful to women who are trying to decide whether to undergo prenatal testing, particularly women who would not consider abortion.…”

Attitudes of Filipino parents of children with Down syndrome on noninvasive prenatal testing

“…Mothers of children with a prenatal diagnosis of DS who chose to continue with the pregnancy share the perspective that the utility of the test lies in allowing preparation for a child with special needs and being able to obtain resources and knowledge prior to the birth (Hurford et al 2013 ). It then becomes a question of balancing the benefit of preparation versus the anxiety it may bring (Michie 2020 ).…”