Decision-making for congenital anomalies diagnosed during pregnancy: a narrative review

Abstract

Purpose

The purpose of this narrative review was to assess the limited literature on fetal anomalies diagnosed in the second trimester of pregnancy and parental decision-making and identify sources of information deemed as facilitators and barriers to medical decisions.

Methods

This was a literature review of source material and information about fetal anomalies diagnosed in the second trimester of pregnancy, decision-making, decision tools or aids, and sources of information for anomalies. The search string used explored related peer-reviewed publications and systematic reviews between 2007 and 2024. We also reviewed references from publications meeting inclusion criteria. The search was conducted between June 2022 and February 2024. Exclusion criteria included conference abstracts, non-peer reviewed literature, and articles not available in English language. A total of 77 publications were identified by searching multiple databases using a predefined search string. The search encompassed full text articles from 2007 to 2024 and 11 full-text publications were ultimately included in the review. A list of 45 co-occurring keywords was generated from the included texts, with each keyword having a minimum of two co-occurrences.

Results

Key themes identified included (1) the role of the clinician and need for development of professional knowledge and empathy surrounding discussion of fetal anomalies with patients; (2) information gathering, with individuals reporting use of multiple strategies to obtain information; while the majority found information satisfying, they preferred more details on diagnosis, long-term outcomes of the fetus/child and management of the pregnancy or termination process; and (3) decision-making, the path and process of how individuals made decisions about the pregnancy including quality of life, future fertility, and seeking other people’s experiences.

Conclusion

Many factors contribute to an individual’s decision-making after a diagnosis of a fetal anomalies diagnosed in the second trimester of pregnancy, ranging from personal beliefs and goals to shared experiences of others and access to care. Understanding how sources of information may be deemed both as facilitators and barriers to different individuals during the decision-making process is important for healthcare providers in order to understand how to most effectively support patients. There is a dearth of information on training healthcare professionals to provide support to patients facing these decisions.

Introduction

In 2–3% of pregnancies, even among those with negative early prenatal genetic screening, there will be fetal anomalies diagnosed in the second trimester of pregnancy at the time of ultrasound, evaluating fetal anatomy [1]. While some prenatally detected congenital anomalies are well described with a higher level of certainty in predicting prognosis, several fetal anomalies have a high level of uncertainty in prognosis, leaving prospective parents with unease regarding their preferred management. Some examples of congenital malformations for which limited long-term prognoses are known include agenesis of the corpus callosum, ventriculomegaly, Dandy-Walker malformation, and Arnold-Chiari II malformation. Impairments can span from physical to neurocognitive, and can vary from mild to severe levels of impairment. This situation requires the expectant person to make a decision to continue the pregnancy and raise a child with mild to severe disability or to terminate the pregnancy—a decision that must be made within a limited timeframe based on legal limitations where they receive care.

Some people would not consider termination under any circumstances, while some would want to weigh the option to terminate in terms of personal and/or religious values and quality of life. In these scenarios, parents may consider various types of impairments differently. For example, permanent physical impairment may be more heavily weighed than neurocognitive impairment. The ability for a pregnant person or parents to consider their values helps them to increase awareness of beliefs that may have bearing on decisions and actions surrounding the pregnancy. In addition,

The timing of decisions about termination of a desired pregnancy is never easy; they are more distressful in later trimesters [2]. One study compared women who had a termination for medical reasons (genetic variations or congenital anomalies) in the first trimester compared to those in the second. The study found that those in the second trimester had significantly greater levels of depression, grief, and posttraumatic stress. These feelings were associated with the trauma of loss but also with perceptions of misinformation about the termination process and lack of support for decisions [3]. While first trimester terminations can often be done in one visit with minimally invasive procedures or medications, terminations in the second trimester may require multiple appointments for cervical preparation prior to surgery, injections to induce fetal demise, and invasive procedures that may further increase the distress.

People who have continued with pregnancies where an anomaly was identified in the second trimester generally report that making their decision was difficult and they took many factors into consideration [4–6]. Multiple individuals described a history of infertility or multiple miscarriages and thus chose to continue with their pregnancy because they had “tried so hard” to get pregnant [4]. Others described believing that this pregnancy would potentially be their last chance to have a child due to their advancing age and felt that they had “waited long enough” to conceive [5]. Finally, many individuals reported a sense of attachment to their unborn fetus which influenced their decision, particularly after seeing the fetus on an ultrasound or feeling kicks and thus felt at peace with their decision to continue with the pregnancy [6].

The purpose of this narrative review was to assess the limited literature on unique second trimester identified anomalies (e.g., holoprosencephaly, corpus callosum, ventriculomegaly, Dandy-Walker malformation, and Arnold-Chiari II malformation) and parental decision-making and identify sources of information deemed as facilitators and barriers to medical decisions about the pregnancy. Impairments can span from physical to neurocognitive and can vary from mild to severe levels of impairment.

Methods

We conducted a structured literature review of source material and information about congenital anomalies identified during the second trimester, decision-making, decision tools or aids, and sources of information for anomalies. We used the search string below in PubMed, Google Scholar and Cinhal databases to explore related peer-reviewed publications and systematic reviews that connected these topics: “agenesis of the corpus callosum,” “ventriculomegaly,” “Dandy-Walker malformation,” “Arnold-Chiari II malformation,” “second trimester,” “anatomy scan,” “decision aids,” “decision tools,” “sources of information” in relation to the outcomes of “pregnancy termination” or “pregnancy continuation,” “term birth,” “decisions” “quality decisions,” “role of clinician/provider/health professional.” We focused the search on the timeframe 2007–2024 since the American College of Obstetrics and Gynecology (ACOG) released practice guidelines in 2007 on the use of the anatomical scan performed at 18–22 weeks to maximize reproductive options [7]. We also reviewed references from publications meeting inclusion criteria. The search was conducted between June and December 2022 and re-run in February 2024 with 7 additional papers identified. We excluded conference abstracts, non-peer reviewed literature, and articles not available in English language. A total of 77 (n = 77) publications were identified by a PubMed and Google Scholar database search using a search string (Fig. 1). The search encompassed full text articles from 2007 to 2024 and 11 full-text publications (N = 11) were ultimately included in the review. The remaining records (n = 66) were excluded from review for the following reasons: 1) did not discuss patient decision-making/experience (n = 38); 2) did not address 2nd trimester abortion/termination for fetal anomalies (n = 28) (Fig. 2—Prisma Diagram). A list of all included papers is in Table 1 (Fig. 3).

Fig. 1.

Search terms used

Fig. 2.

PRISMA flow diagram for narrative review of decision-making for fetal anomalies

Table 1.

Included manuscripts

Citation	Type	Sample Size	Results
Maguire, M., Light, A., Kuppermann, M., Dalton, V.K., Steinauer, J.E. and Kerns, J.L., 2015. Grief after second-trimester termination for fetal anomaly: a qualitative study. Contraception, 91(3), pp.234–239	Longitudinal Qualitative	13	Themes that contributed to grief include self-blame for the diagnosis, guilt around the termination decision, social isolation related to discomfort with abortion and grief triggered by reminders of pregnancy. Social support and time are mechanisms that serve to alleviate grief
Kerns, J.L., Mengesha, B., McNamara, B.C., Cassidy, A., Pearlson, G. and Kuppermann, M., 2018. Effect of counseling quality on anxiety, grief, and coping after second-trimester abortion for pregnancy complications. Contraception, 97(6), pp.520–523	Cross-sectional survey	145	Shared decision making and decision satisfaction scores were positively correlated; as were posttraumatic stress and grief scores. Higher decision satisfaction was associated with lower grief and posttraumatic stress score and higher shared decision making was associated with lower posttraumatic stress scores
Maistrellis, E., Janiak, E., Hammel, R., Hurwitz, S., Delli-Bovi, L. and Bartz, D., 2019. Demographic, clinical, and counseling factors associated with the selection of pregnancy termination method in the second trimester for fetal and pregnancy anomalies. Women's Health Issues, 29(4), pp.349–355	Retrospective cohort	514	Women who selected induction of labor were more likely to have received counseling from obstetric subspecialties, pediatrics specialties, and social support services, compared with those who selected dilation and evacuation
Kerns, J., Vanjani, R., Freedman, L., Meckstroth, K., Drey, E.A. and Steinauer, J., 2012. Women's decision making regarding choice of second trimester termination method for pregnancy complications. International Journal of Gynecology & Obstetrics, 116(3), pp.244–248	Qualitative	21	Key themes from the interviews were: valuing the ability to choose the method, and the importance of religious beliefs, abortion attitudes, and emotional coping style. Women's preferences for a method were largely based on their individual emotional coping styles
Govender, L., Ndjapa-Ndamkou, C., Aldous, C. and Moodley, J., 2015. A pilot study of women's experiences after being offered late termination of pregnancy for severe fetal anomaly. Nigerian journal of clinical practice, 18(Suppl 1), pp.S71-S76	Pre-post survey	15	Partners and immediate family members influenced decision making and were associated with reduced regret when the decision was made as a family
Hendrix, T., Roncoroni, J., Magdamo, B., Whitaker, S., Zareba, K. and Grieco, N., 2023. Stigma, social support, and decision satisfaction in terminations of pregnancy for medical reasons. Women's Health Reports, 4(1), pp.271–279	Cross-sectional survey	132	Results showed no association between stigma and decision satisfaction. Higher social support was associated with higher decision satisfaction. Decision satisfaction was higher in participants who experienced more than one source of support compared with those reporting only one source of support, and in those who experienced support from a relative and physician than in those who did not
Gawron, L.M., Cameron, K.A., Phisuthikul, A. and Simon, M.A., 2013. An exploration of women's reasons for termination timing in the setting of fetal abnormalities. Contraception, 88(1), pp.109–115	Qualitative	30	The major themes identified for timing included: an abrupt shift in “low-risk” pregnancy perception; challenging medical interactions; an emotional decision-making process; and termination access barriers
Redlinger‐Grosse, K., Bernhardt, B.A., Berg, K., Muenke, M. and Biesecker, B.B., 2002. The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. American Journal of Medical Genetics, 112(4), pp.369–378	Qualitative	24	Most did not make an active decision about continuing the pregnancy but described a more subtle decision-making process evolving over time based on several factors: religious and personal beliefs, past experiences, and the uncertainty of the diagnosis. Patients described informational, emotional, and supportive needs from family, friends, and health professionals
Andersson, I.M., Gemzell-Danielsson, K. and Christensson, K., 2014. Caring for women undergoing second-trimester medical termination of pregnancy. Contraception, 89(5), pp.460–465	Qualitative	21	Findings of this study support the need for training, mentoring and support by experienced colleagues to help professionals in thier role in difficult situations and feel confident in their personal life situation
Andersson, I.M., Christensson, K. and Gemzell-Danielsson, K., 2014. Experiences, feelings and thoughts of women undergoing second trimester medical termination of pregnancy. PLoS One, 9(12), p.e115957	Mixed methods	31 survey/21 interview	Professional support from clinicians with support from the partner, a friend or relative helped in reducing worries related to the unknown and increased feelings of coping with a difficult experience
Ramdaney, A., Hashmi, S.S., Monga, M., Carter, R. and Czerwinski, J., 2015. Support desired by women following termination of pregnancy for a fetal anomaly. Journal of genetic counseling, 24, pp.952–960	Longitudinal survey	51	Respondents were knowledgeable of existing resources at the time of the procedure, and 50% suggested need for individualized support. Majority anticipated relying on the support of family and friends. 50% desired to commemorate the pregnancy, though none wanted contact with their healthcare providers. Responses from the 6 weeks and 3 months assessments indicated women were not coping as they expected and were unprepared for the psychological consequences following the procedure. Findings indicate that women in these situations may not realize what their long-term support needs will be

Fig. 3.

Included papers

Results from the identified articles are summarized by key themes.

Results

The role of the clinician

A qualitative study of nurses and midwives caring for women undergoing second trimester medical termination of pregnancy revealed the need for development of professional knowledge and empathy and the need to support the pregnant person’s rights [8]. This training was deemed best administered through mentorship. Andersson et al. reported women undergoing medical termination for fetal anomaly perceived what they described as “neutral support” from nurses which was appreciated in some cases and assisted with decision-making, while in other cases was perceived as not helpful [9]. Gawron et al. noted some women in their study felt providers withheld information about the diagnosis of the fetus and did not feel they had the complete picture [5]. Several individuals described not understanding the information they were given and being referred to a sub-specialist who provided information that was “more informative” and “validated their decision-making” [5]. In a cross-sectional study of women who had a second trimester termination for fetal anomalies or other complications (neither was specified as to type), the role of the healthcare provider in shared decision-making was a key component of satisfaction with the decision; women who reported higher decision satisfaction reported more shared decisions with their provider during the decision process [10].

Information gathering

Andersson et al. subjects used multiple strategies to obtain information, typically the internet, friends, and clinic staff. The majority of respondents found the information satisfying but wish they would have had more details. Lack of information about the termination process caused feelings of fearfulness. The majority indicated they preferred to obtain information from other women who had experienced a second trimester termination as well as information about the specific malformation they had been informed their fetus had [9]. Gawron et al.’s participants all reported the need to do their own research and to verify the information received from medical providers, using the Internet, online support groups or blogs of personal stories [5]. The majority reported they did not have adequate knowledge of the second trimester termination process and wished more guidance had been offered. Ramdaney et al. noted that 14% of their 50 respondents in a study on termination for a fetal anomaly were unaware of support sources and resources [11]. In another, Andersson et al. study, they explored Swedish women’s expectations and experiences after undergoing a second trimester abortion for fetal malformation [9]. The majority of participants noted they were unsure what to expect and did not feel informed about the process.

Decision-making

Gawron et al. noted all participants were “acutely aware of the passage of time” when making a decision. Major themes on how individuals made decisions included quality of the parents’ lives as well as perceived quality of life of their unborn child, their ability to have a child in the future based on their age or history of infertility, and seeking out “other people’s experiences” [5]. Gawron et al. found that the fact that other people experienced similar situations as the current decision-makers was viewed as beneficial for decision-making. This sentiment was supported in a pre-post survey of decision-making among women with a second trimester abortion. The quality of life the child may experience was a key factor as well as the fact that termination was a “family decision” and that support from family for the termination was related to less regret [12]. Hendrix et al. also confirmed that social support, particularly from more than once source (e.g., relatives and clinicians), was associated with decision satisfaction [13]. Maguire et al. concluded, in a longitudinal study of women who terminated a pregnancy in the second trimester due to a fetal anomaly, that patients needed tailored counseling that dispels misperceptions about the cause of the anomaly, efforts to decrease stigma associated with abortion decisions, and increased social support [14]. In a study focused on the parents’ experience of a holoprosencephaly prenatal diagnosis, parents drew on their past medical experiences; the level of certainty of the diagnosis; the seriousness of the condition; and relying on their religious and personal beliefs to make decisions about termination or continuing with the pregnancy [4].

The type of procedure used in the termination process varied by the type of clinician who provided counseling. In a retrospective cohort study of 514 patients who underwent a second trimester abortion for fetal anomalies, patients counseled by a clinician from an obstetric subspecialty, pediatrics subspecialty, or social support services, were more likely to choose induction of labor compared to dilation and evacuation (D&E). D&E was chosen among those who either received counseling from a genetic counselor or for whom there was no indication in the chart about counseling [15]. However, in a qualitative study of 21 women with second trimester anomalies, the majority who were offered a choice of abortion type chose D&E and reported that they appreciated the “non-directive approach” to counseling by their provider. Among those who were not given a choice, there was considerable “frustration.” [16]

Discussion

Pregnant patients/couples with a diagnosis of a second trimester anomaly overall desired more information and details on their situation and the process of abortion in order to make an informed decision. While some individuals have reported favoring this information from a sub-specialist and expert on their situation, others have favored information from individuals who have gone through a similar experience. The literature on the decision-making process in these situations is limited, calling attention to the need for further research and expanded resources to assist parents who must navigate their prenatal diagnosis and decide whether or not to terminate the pregnancy. This information is needed in order to appropriately support parents throughout their decision-making process.

In general, patient medical decision-making is often associated with uncertainty that is compounded by issues related to health literacy and numeracy [17]. Health literacy is defined as the degree to which individuals have the capacity to obtain, process, and understand basic health information needed to make appropriate health decisions [18]. Health numeracy is the ability to access, use, interpret, and communicate mathematical information and ideas for health decisions [19]. Developing decision tools for medical situations presents a challenge concerning how much and what type of information to include. The inclusion of information about risks and benefits in such tools is necessary to support ethical autonomy in decision-making; however, all individuals do not perceive severity or risk in the same way. A 60% chance of a physical disability may be interpreted as high risk to some while others may focus on the 40% chance of no disability. Numbers for some people inspire greater trust, yet others report wanting qualitative information, specifically the experiences of others with similar situations or diagnoses [20–22]. This is particularly true of pregnant people/couples, who have tended to rely on information from other people more than their own clinicians, and this trend has not changed even with the rise of accessible information on the internet. In fact, a recent international study concluded pregnant women used the internet to reach other women as their primary source of information (92.4%), followed by blogs/web pages (85.8%), mobile apps (75.6%), and social media (8.1%). The majority of women found information received through the internet as useful and reliable (92.5%) and 44% spent 1 h per day or more seeking internet information [23–25]. Thus, crowdsourcing, the process of aggregating group wisdom to solve a problem, has been the preferred method of information gathering for pregnant people since before the internet and has only expanded with improved access and agility of internet technology.

Crowdsourcing is an approach to information gathering and decision-making that is gaining substantial momentum. Multiple studies have evaluated the use of crowdsourcing for health-related decision-making and found that it is a valuable tool to improve health in many settings as it introduces the potential for mass community engagement, has the potential to provide more accessible healthcare, and lowers costs of care [26–28]. Chang et al. highlight crowdsourcing in pregnancy and note its strength is rooted in obtaining the judgments of individuals who are likely more similar to patients than healthcare providers, and it uses several layers of validation in order to ensure a high level of accuracy in information gathering [29]. It is also important to consider the source of information from which individuals are crowdsourcing so as to ensure the sources have adequate and reliable knowledge.

Subspecialists such as Maternal–Fetal medicine and Complex Family Planning physicians are uniquely trained to provide counseling and support for patients in these situations and this expert information is desired and appreciated by patients in the decision-making process. However, there is a dearth of literature on the actual training that is provided to trainees in these sub-specialties. Some patients in these studies also indicated that their information needs for decision-making included family support and that such support was related to reduced regret. Additional information from the lived experiences of others may also be needed in order for patients to make as informed of a decision as possible. One of the impetuses for conducting this narrative review was a comment from a patient in an online forum who received a diagnosis of a second trimester fetal anomaly and described her experience with information sources and decision-making:

It took several rounds of IVF to get pregnant. I have wanted a family for as long as I can remember. We had a room ready, there was a car seat waiting for her. Now, at 22 weeks we get the most devastating news of our life. The fetus, the doctors words not mine – to me she was our baby, had a neurological abnormality that may cause serious cognitive issues, maybe impaired physical development, and quality of life issues. We were given the option to terminate. I noticed the word may, and asked it is possible she may not? They did not know, this was a rare condition, 25% chance of X; 50% chance of Y but not a lot information, it was serious and we had to decide quickly because in one more week, she would be considered viable and termination would not be an option. Those percentages meant nothing to me and not useful to make a decision. I spent 24 hours on the computer, reading about the condition, learning from others who had similar experiences. That was much more helpful.

Like Andersson et al. and Gawron et al.’s findings, this patient preferred to gather information from others who had similar experiences and insight into what she was going through [6, 11].

Beyond getting adequate information for decision-making, an additional layer in the process remains access to appropriate services, especially in the current political environment after the Dobbs vs Jackson decision. Not all individuals in states with abortion restrictions have the financial resources, time, psychological safety, and ability to travel to states without restrictions. The only state law that mentions an exception for banning abortion for fetal anomalies is Louisiana, citing an exception for “medically futile” pregnancies, defined as “in reasonable medical judgment, the unborn child has a profound and irremediable congenital or chromosomal anomaly that is incompatible with sustaining life after birth” [29]. Thus, while some individuals may come to a decision to terminate a pregnancy, it is important to discuss the feasibility of being able to do so based on state regulations surrounding abortion, financial resources, and time. Another challenge resulting from the overturn of Roe vs Wade and the resulting state laws that were enacted is a reduction in training opportunities to learn how to perform second trimester abortions, potentially leading to a significantly reduced workforce of clinicians. A study of family medicine residency programs conducted in 2023 identified nineteen percent of programs had routine medication abortion training and only 10% had routine aspiration training [30]. Of those programs that offered training, in 58% of programs the training was elective. Factors associated with the presence of abortion training included being in a state with protected abortion access, not having a Catholic affiliation, and having a program director who believed abortion training should be routine [30]. A qualitative study of OBGYN physicians practicing in states with restrictive abortion laws noted more than half had considered leaving the state due to experiencing moral distress over their inability to provide needed care [31].

Conclusion

Many factors contribute to an individual’s decision-making after a diagnosis of a second trimester anomaly, ranging from personal beliefs and goals to shared experiences of others and access. Understanding how sources of information may be deemed both as facilitators and barriers to different individuals during the decision-making process is important for healthcare providers in order to understand how to most effectively support patients.

Author contribution

J.P. collected, analyzed and interpreted the data and wrote the article. A.G., D.J., and C.M., interpreted the data and reviewed the article. G.Q. and C.P. reviewed the article and supervised the entire research process. All authors read, edited, and approved the final article.

Declarations

Conflict of interest

The authors declare no competing interests.