Pregnant individuals' genetic literacy and decisional conflict about prenatal screening tests: A cross-sectional study
Abstract
Understanding the prenatal screening and diagnostic tests performed during pregnancy and making a decision in line with the test results can be a complex process for pregnant individuals and their families. Therefore, this study examined pregnant individuals' genetic literacy and decisional conflict regarding prenatal screening tests. The study was conducted with 328 pregnant individuals who applied to a training and research hospital to receive antenatal care between April 05 and September 30, 2021. Research data were collected by using the “Decisional Conflict Scale,” “SURE Scale,” and “Genetic Literacy and Comprehension Measure.” The mean age of the participants was 28.69 ± 5.48, and the mean gestational week was 25.90 ± 10.43. A statistically significant difference was found between the educational levels of the pregnant individuals and the genetic literacy and comprehension scales (p < 0.001). A statistically significant difference was found between getting information about prenatal screening tests, having a screening test and decisional conflict scale, SURE Scale, and genetic literacy and comprehension scales (p < 0.001). A weak, negative, statistically significant correlation was found between the genetic literacy and comprehension familiarity and decision conflict scales (r = −0.177, p = 0.001). It is well known that pregnant individuals have difficulty understanding and interpreting test results due to prenatal screening tests that include genetic information. In our study, approximately half of the pregnant individuals received information about prenatal screening tests. Therefore, prenatal care must include the necessary information about prenatal screening tests. The study found that as the genetic literacy of pregnant individuals increased, the conflict of decisions they experienced decreased. Accordingly, it is suggested that interventions to increase genetic literacy among pregnant individuals may be effective in reducing decisional conflict regarding prenatal screening tests.
What is known about this topic?
- ACOG recommends offering prenatal screening and diagnostic tests to all pregnant individuals.
- When making health-related decisions, individuals need to understand genetic information regarding the options available to make an informed choice.
What this paper adds to the topic?
- The genetic literacy levels of pregnant individuals were found to be moderate, but there are still knowledge gaps.
- This study found that decisional conflict levels decreased when pregnant individuals' familiarity with genetic terms increased.
1 INTRODUCTION
Prenatal testing is implemented in prenatal care in many countries to evaluate the fetus's risk for genetic disorders (Gadsbøll et al., 2020; Halliday et al., 2018; Smith et al., 2018; Yeşilçinar et al., 2021). Globally, prenatal tests have become easily accessible within the recent advantages of healthcare technology. The first-trimester screening (nuchal translucency (NT), beta-human chorionic gonadotropin (β-hCG), maternal serum pregnancy-associated plasma protein-A (PAPP-A)), second-trimester screening tests (triple test (alpha-fetoprotein (AFP), beta-hCG, estriol), quadruple (AFP, β-hCG, estriol, and inhibin-A), penta screen (AFP, β-hCG, estriol, inhibin-A, and hyperglycosylated hCG)), ultrasonography, and cell-free DNA tests are the available prenatal screening tests (Rose et al., 2020). In Turkey, in the first trimester, combined screening (NT, β-hCG, and PAPP- A) and cell-free DNA, and in the second trimester, triple tests are widely used tests. In the first antenatal care, all pregnant women are recommended to have prenatal screening tests. There are diverse test options available, and each has some differences, advantages, and limitations. Therefore, healthcare professionals should provide patient-centered counseling and facilitate informed decisions for pregnant individuals and their families (Rose et al., 2020).
American College of Obstetricians and Gynecologists (ACOG) recommends offering prenatal screening and diagnostic tests to all pregnant individuals, as well as counseling and informing them about the risk for chromosomal abnormalities. In addition, pregnant individuals should be informed of the tests' limitations and aims and the decisions that can be made based on their results (Krstić & Običan, 2020; Rose et al., 2020; Yeşilçinar et al., 2021). Understanding all the information about prenatal testing can be challenging for pregnant individuals and their families due to the genetic terms used when discussing the tests. Therefore, assessing patients' understanding of information about prenatal testing is important because families may be faced with a decision after receiving test results that could affect the life of the fetus and the family (Seven et al., 2019).
The U.S. government's Healthy People 2030 initiative defined health literacy as the “degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others” (Health Literacy in Healthy People 2030 – Healthy People 2030 | health.gov, n.d.). Literacy is essential for individuals' motivation to learn about their health (Kaphingst et al., 2016). Genetic literacy, part of health literacy, indicates the ability to understand genetic terms and familiarity with the genetic terms (Hooker et al., 2014). With the integration of genomic information into healthcare services, in addition to general health knowledge, genomic knowledge is required to understand the genetic basis of diseases, treatments, and testing options (Regan et al., 2019). With the genomic advances in healthcare, individuals are exposed to interventions involving genomic information, such as genetic testing, pharmacogenomics, and gene therapy (Aworunse et al., 2018). In making health-related decisions, individuals need to understand the genetic information related to available options to make an informed choice. Notably, pregnant individuals are confronted with decisions regarding prenatal genetic tests during pregnancy, such as whether to take the tests and which test/s to have. Therefore, pregnant individuals should receive and be able to obtain appropriate information on prenatal genetic tests' aims, results, benefits, and disadvantages during the pregnancy. Recently, a few studies have focused on evaluating pregnant women's genetic literacy levels (Page et al., 2021; Seven et al., 2019; Sullivan et al., 2019). There is still limited evidence on genetic literacy and its effect on pregnant individuals' decisional conflict levels.
1.1 Objective
This study aimed to assess pregnant individuals' genetic literacy and decisional conflict regarding prenatal screening tests, including whether to have a test and which test/s to have.
2 METHODS
2.1 Design and participants
This descriptive cross-sectional study was conducted between April 05, 2021, and September 30, 2021, in obstetrics outpatient clinics in a training and research hospital in Turkey. Pregnant individuals who were at least 12 gestational weeks applied to receive antenatal care and who could understand and speak Turkish were eligible. The exclusion criterion was being illiterate. A pilot study was conducted with 10 pregnant individuals. According to their feedback, no changes were made in the survey, and the pilot study data were not included. All eligible pregnant individuals were informed about the study's aim and invited to participate. Data collection was finalized after reaching out to 351 pregnant individuals' data.
2.2 Sample size determination
The sample size was calculated before data collection by using clinc.calc sample size calculator based on information from a previous study conducted on pregnant women considering mean decisional conflict scores (32.90 ± 19.38) (Yeşilçınar & Güvenç, 2019). For type I error = 0.05, type II error = 0.2, power of 80%, and estimation of mean decisional conflict scores as 30.00 in our sample, the sample size was calculated to include 351 pregnant individuals (clincalc.com).
2.3 Data collection
Research data were collected in person through a written, self-administered survey completed by pregnant individuals immediately after their appointment. The written informed consent form was provided to eligible participants. It took approximately 20 min to complete the survey for each pregnant individual.
2.4 Data collection tools
2.4.1 Descriptive data collection form
The descriptive data collection form was prepared by the researchers according to the literature (Abdo et al., 2018; Cloutier et al., 2017; Seven et al., 2019). The form consisted of two parts. The first part included questions assessing participants' socio-demographic and obstetric characteristics such as age, education, employment, gestational week, parity, etc. The second part included multiple-choice questions regarding prenatal screening tests, such as the screening tests they know, information resources, reasons for uptaking prenatal tests, and beliefs.
2.4.2 Decisional conflict scale
The Decisional Conflict Scale (DCS) was developed by O'Connor to assess patients' perceptions regarding informed decision-making (O'Connor, 1993). In this study, we used the scale to assess participants' informed decision-making regarding prenatal screening tests. The adaptation to the Turkish population of the scale has been conducted by Yeşilçınar and Güvenç (2019). The DCS consists of 16 items measured on a 5-point Likert scale (0 = strongly agree to 4 = strongly disagree). Higher scores indicate higher decisional conflict (min = 0, max = 100). The Cronbach's alpha value was found to be 0.94 in the Turkish adaptation study (Yeşilçınar & Güvenç, 2019). In this study, Cronbach's alpha was found to be 0.95. The DCS asked an additional option preference question not included in the scoring. The question determined the participants' preference for prenatal screening test options, such as first trimester combined test, triple, quadruple, or non-invasive prenatal testing, to evaluate their informed decision about the test they had. The question also included an “unsure” option for participants who did not know about prenatal screening tests.
2.4.3 SURE scale
The SURE scale (SS) was developed by O'Connor (1995) to assess individuals' uncertainty regarding health conditions. In this study, we used the scale to assess participants' uncertainty in decision-making regarding prenatal screening tests for having information about the fetus's health status. The four-item scale was scored on a 2-point Likert scale (Yes = 1, No = 0) with a maximum of four and a minimum of zero points. The maximum score (4) indicates no decisional conflict, whereas the other scores (≤3) indicate decisional conflict (O'Connor, 1993). Turkish adaptation of the scale has been tested by Yeşilçınar and Güvenç (2019), and Cronbach's alpha was found to be 0.84 (Yeşilçınar & Güvenç, 2019). In our study, Cronbach's alpha was 0.78. While responding to this scale, participants considered their preference for prenatal screening test options, such as first trimester combined test, triple, quadruple, or non-invasive prenatal testing, to determine their informed decision-making regarding the test they had.
2.4.4 Genetic literacy and comprehension measure (GLAC)
The GLAC scale was developed by Hooker et al. (2014) to evaluate the familiarity with genetic terms and concepts. The GLAC comprises eight genetic concepts (genetics, chromosomes, susceptibility, mutation, variation, abnormality, heredity, and sporadic). The GLAC has individuals score their familiarity with the concepts on a 7-point score and eight fill-in-the-blank questions (Hooker et al., 2014). Seven et al. (2019) conducted a Turkish validity study, and Cronbach's alpha was 0.79 (Seven et al., 2019). In our study, Cronbach's alpha value was 0.79.
2.5 Ethical considerations
This study was approved by the Giresun University Clinical Research Ethical Board (Decision number 26, Date: 18.03.2021). Each pregnant woman was informed about the study's aim, and written informed consent was obtained.
2.6 Data analysis
The study data were analyzed by using IBM SPSS version 26. Descriptive data analyses for the Likert scales, multiple choice, and binary scale (e.g., yes or no) responses were performed as a number, percentage, mean, median, minimum, maximum, and standard deviation. Descriptive and comparative analyses were performed to characterize the demographic data. Normality tests were used to decide the statistical methods for data analysis (Mishra et al., 2019; Yap & Sim, 2011). In this study, normality was tested with the Kolmogorov–Smirnov test. Mann–Whitney U and Kruskal–Wallis tests were used to study data that did not fit the normal distribution. The relationships between DCS and GLAC scale scores were calculated using the Spearman correlation coefficient. A p-value of <0.05 was considered statistically significant.
3 RESULTS
During the study dates, 383 eligible pregnant individuals were invited to participate. Of the pregnant individuals, 32 did not agree to participate, and data collection was finalized by 351 participants. Missing data were found in 23 participants' data collection forms during data analysis. Therefore, data analysis was performed by using 328 pregnant individuals' data. After the calculated sample number was lost for the study, a post-hoc power analysis was performed, and the study's power (power = 0.80) showed a sufficient sample size.
The mean age of participants was 28.69 ± 5.48 years, the mean gestational week was 25.90 ± 10.43 weeks, and the mean number of pregnancies was 2.11 ± 1.18. Of the pregnant women, 84.5% were in the 18–34 age group, 36.3% were high school graduates, 69.8% were not employed, 70.1% perceived their income as equal to their expenses, 90.2% had not consanguineous marriage, 73.5% had planned pregnancy, and 62.2% were multiparous (Table 1).
| Variables | Mean ± SD |
|---|---|
| Age (year) | 28.69 ± 5.48 |
| Number of pregnancy | 2.11 ± 1.18 |
| Gestational week | 25.90 ± 10.43 |
| n (328) | % | |
|---|---|---|
| Age (18–44 years) | ||
| 18–34 years | 277 | 84.5 |
| 35–44 years | 51 | 15.5 |
| Educational status | ||
| Primary and Elementary | 92 | 28.0 |
| High School | 119 | 36.3 |
| University and Higher | 117 | 35.7 |
| Occupation | ||
| Employed | 99 | 30.2 |
| Not employed | 229 | 69.8 |
| Income | ||
| Less than expenses | 34 | 10.4 |
| Equal to expenses | 230 | 70.1 |
| More than expenses | 63 | 19.3 |
| Consanguineous Marriage | ||
| Yes | 32 | 9.8 |
| No | 296 | 90.2 |
| Obstetric prosperities | ||
| Planning status of the pregnancy | ||
| Yes | 241 | 73.5 |
| No | 87 | 26.5 |
| Parity | ||
| Primiparous | 124 | 37.8 |
| Multiparous | 204 | 62.2 |
- Abbreviation: SD, standard deviation.
Of the participants, 58.8% stated that they received information about prenatal screening tests, and 83.4% received information from their physician. Most participants were familiar with the first trimester combined test (89.3%) and triple test (76.8%). Of the participants, 53.0% had prenatal screening tests in their current pregnancy, and 54.6% had prenatal screening tests in their previous pregnancy. The most common reason for refusing prenatal testing was a lack of knowledge about the tests (21.6%). The most common reason for having prenatal screening tests was to obtain information about the baby's health (52.1%; Table 2). According to DCS pre-question data not shown in tables, of the participants, 57.0% preferred combined first-trimester testing, 11% triple testing, 1.5% noninvasive prenatal testing, 4% quadruple testing, and 26.5% were unsure.
| Information status regarding prenatal screening tests | n (328) | % |
| Yes | 193 | 58.8 |
| No | 135 | 41.2 |
| Information sources regarding prenatal screening testsa | n (193) | |
| Physician | 161 | 83.4 |
| Internet | 53 | 27.5 |
| Friends/Relatives | 34 | 17.6 |
| Nurse | 19 | 9.8 |
| Other Healthcare Professionals | 13 | 6.7 |
| Media | 10 | 5.2 |
| Which prenatal screening/diagnostic tests do you knowa | ||
| First trimester combined test | 293 | 89.3 |
| Triple test | 252 | 76.8 |
| Quadruple test | 117 | 35.7 |
| Amniocentesis | 85 | 25.9 |
| Cell-free DNA | 40 | 12.2 |
| Chorionic villus sampling | 20 | 6.1 |
| Having prenatal screening test in previous pregnancya | n (204) | |
| Yes | 112 | 54.6 |
| No | 30 | 14.7 |
| Do not remember | 62 | 30.7 |
| Having prenatal screening test in current pregnancya | ||
| Yes | 174 | 53.0 |
| No | 154 | 47.0 |
| The reason for not having prenatal screening testa | n = 149 | |
| I don't know the tests | 71 | 21.6 |
| I will give birth whether my baby is ill or not | 48 | 14.6 |
| It is not necessary | 19 | 5.8 |
| I am afraid of having prenatal testing | 15 | 4.6 |
| Due to religious belief | 11 | 3.4 |
| The reason for having prenatal screening testa | n = 179 | |
| To obtain information about the baby's health status | 171 | 52.1 |
| To take the necessary precautions earlier if my baby is unhealthy | 70 | 21.3 |
| I want to give birth to a healthy baby | 61 | 18.6 |
| To know what to expect even if my baby is unhealthy | 51 | 15.5 |
| My physician recommended it | 49 | 14.9 |
| I think it is useful | 43 | 13.1 |
- a Participants are allowed to select more than one option.
There was a strong evidence of a difference between employment status and SS, GLAC familiarity, and knowledge scale scores, with those employed demonstrating increased familiarity and knowledge and decreased decisional conflict compared to those not employed (p < 0.001). A strong evidence of a difference was found between participants' educational level and GLAC familiarity and knowledge scale scores, with those university and higher educational levels demonstrating increased familiarity and knowledge, compared to those lower educational levels (p < 0.001). There was strong evidence of a difference between the planning status of the pregnancy, parity, and GLAC knowledge scale scores of pregnant individuals with those planned pregnancies (p = 0.003) and primiparous individuals (p = 0.024) demonstrating increased knowledge. We found a strong evidence of a difference between DCS, SS, GLAC familiarity, knowledge scale scores, and information status regarding prenatal screening tests, with those informed about prenatal screening tests demonstrating decreased decisional conflict (p = 0.001) and increased familiarity and knowledge (p < 0.001) compared to those who did not inform about the tests. In addition, we found strong evidence of a difference between DCS, SS, GLAC familiarity scale scores, and having prenatal screening tests in current pregnancy (p = 0.009, p = 0.011, p = 0.008, respectively; Table 3). Pregnant individuals who had prenatal screening tests in their current pregnancy demonstrated decreased decisional conflict and increased familiarity and knowledge compared to those who were not informed about the tests.
| Variables | DCS median (min–max) | SS median (min–max) | GLAC median (min–max) | |
|---|---|---|---|---|
| Familiarity | Knowledge | |||
| Total score | 29.56 ± 19.16 | 2.58 ± 1.44 | 5.56 ± 1.82 | 5.35 ± 1.75 |
| Agea | ||||
| 18–34 | 28.12 (0.00–93.75) | 3.00 (0.00–4.00) | 5.78 (1.14–8.00) | 6.00 (0.00–8.00) |
| 35–44 | 28.12 (0.00–82.81) | 3.00 (0.00–4.00) | 5.85 (1.14–8.00) | 6.00 (0.00–8.00) |
| Z | −0.141 | −0.361 | −0.137 | −0.297 |
| p b | 0.888 | 0.718 | 0.891 | 0.767 |
| Employment | ||||
| Employed | 26.56 (0.00–67.19) | 4.00 (0.00–4.00) | 6.50 (1.14–8.00) | 6.00 (2.0–8.00) |
| Not employed | 29.68 (0.00–93.75) | 3.00 (0.00–4.00) | 5.42 (1.14–8.00) | 5.00 (0.00–8.00) |
| Z | −0.961 | −3.677 | −5.224 | −4.331 |
| p | 0.337 | <0.001 | <0.001 | <0.001 |
| Educational status | ||||
| Primary and Elementary | 28.12 (0.00–82.81) | 2.00 (0.00–4.00) | 5.57 (1.14–8.00) | 5.00 (0.00–8.00) |
| High School | 28.12 (0.00–82.81) | 3.00 (0.00–4.00) | 5.42 (1.14–8.00) | 5.00 (0.00–8.00) |
| University and Higher | 28.12 (0.00–93.75) | 4.00 (0.00–4.00) | 6.42 (1.14–8.00) | 6.00 (0.00–8.00) |
| X 2 | 0.192 | 14.708 | 39.576 | 17.982 |
| p | 0.909 | 0.101 | <0.001 | <0.001 |
| Family income | ||||
| Low | 25.78 (0–82.81) | 2.50 (0.00–4.00) | 5.57 (1.14–8.00) | 5.00 (0.00–8.00) |
| Moderate | 28.12 (0–93.75) | 3.00 (0.00–4.00) | 5.92 (1.14–8.00) | 6.00 (0.00–8.00) |
| High | 32.81 (0–68.75) | 3.00 (0.00–4.00) | 5.42 (1.14–8.00) | 6.00 (0.00–8.00) |
| X 2 | 1.982 | 0.540 | 8.083 | 1.561 |
| p | 0.371 | 0.763 | 0.418 | 0.458 |
| Planning status of the pregnancy | ||||
| Yes | 28.12 (0–93.75) | 3.00 (0.00–4.00) | 5.85 (1.14–8.00) | 6.00 (0.00–8.00) |
| No | 28.12 (0–82.81) | 3.00 (0.00–4.00) | 5.57 (1.14–8.00) | 5.00 (0.00–8.00) |
| Z | −0.585 | −1.089 | −1.622 | −2.997 |
| p | 0.558 | 0.276 | 0.105 | 0.003 |
| Parity | ||||
| Primiparous | 29.68 (0–93.75) | 3.00 (0.00–4.00) | 6.00 (1.14–8.00) | 6.00 (0.00–8.00) |
| Multiparous | 27.34 (0–82.81) | 3.00 (0.00–4.00) | 5.71 (1.14–8.00) | 5.00 (0.00–8.00) |
| Z | −1.322 | −1.369 | −0.958 | −2.254 |
| p | 0.186 | 0.171 | 0.338 | 0.024 |
| Consanguineous marriage | ||||
| Yes | 32.03 (0.00–82.81) | 2.50 (0.00–4.00) | 5.11 (1.14–8.00) | 5.03 (2.00–8.00) |
| No | 228.12 (0.00–93.75) | 3.00 (0.00–4.00) | 5.60 (1.14–8.00) | 5.38 (0.00–8.00) |
| Z | −0.697 | −1.334 | −1.310 | −1.337 |
| p | 0.486 | 0.182 | 0.190 | 0.181 |
| Information status regarding prenatal screening tests | ||||
| Yes | 25.00 (0.00–70.31) | 4.00 (0.00–4.00) | 6.14 (1.14–8.00) | 6.00 (0.00–8.00) |
| No | 35.93 (0.00–93.75) | 2.00 (0.00–4.00) | 5.28 (1.14–8.00) | 5.00 (0.00–8.00) |
| Z | −3.472 | −5.381 | −3.929 | −4.126 |
| p | 0.001 | <0.001 | <0.001 | <0.001 |
| Having prenatal screening test in the current pregnancy | ||||
| Yes | 26.56 (0.00–93.75) | 3.00 (0.00–4.00) | 6.00 (1.14–8.00) | 6.00 (0.00–8.00) |
| No | 29.68 (0.00–82.81) | 2.00 (0.00–4.00) | 5.42 (1.14–8.00) | 5.00 (0.00–8.00) |
| Z | −2.612 | −2.535 | −2.643 | −1.334 |
| p | 0.009 | 0.011 | 0.008 | 0.182 |
- a p Values of the Kruskal–Wallis test (Z) are given when three or more groups are compared and p values of the Mann–Whitney U (X2) test are given when two groups are compared.
- b A p < 0.05 value was accepted as statistically significant.
Participants were most familiar with genetic, chromosome, susceptibility, and mutation terms. Variation and sporadic terms were the less known terms by pregnant individuals. Of the participants, more than 72.0% knew that “Genetics is the study of how living things receive common traits from previous generations,” “A mutation is a change in your DNA,” “Heredity is the transfer of characteristics from parent to child,” “Trisomy is an abnormality,” and “Having a variation in the genetic code will lead to disease some of the time” questions. “A genetic disease that occurs without a family history is considered a sporadic” question was the less-known question by participants (Table 4).
| Familiarity (subjective) | ± SD (min: 1, max: 7) |
|---|---|
| Genetic | 5.64 ± 1.98 |
| Chromosome | 5.18 ± 2.24 |
| Susceptibility | 5.22 ± 2.07 |
| Mutation | 5.06 ± 2.14 |
| Variation | 4.17 ± 2.37 |
| Abnormality | 4.99 ± 2.29 |
| Heredity | 5.08 ± 2.23 |
| Sporadic | 3.55 ± 2.42 |
| Knowledge (objective)a | n (%) |
|---|---|
| Genetics is the study of how living things receive common traits from previous generations | 251 (76.5) |
| A chromosome contains all our genetic material | 206 (62.8) |
| Susceptibility to a disease means you might get the disease | 226 (68.9) |
| A mutation is a change in your DNA | 249 (75.9) |
| Having a variation in the genetic code will lead to disease some of the time | 236 (72.0) |
| Trisomy is an abnormality | 239 (72.9) |
| Heredity is the transfer of characteristics from parent to child | 242 (73.8) |
| A genetic disease that occurs without a family history is considered sporadic | 107 (32.6) |
- a Correct answers.
We found negative, weak evidence of a relationship between the GLAC familiarity and decisional conflict (r = −0.177, p = 0.001) and SURE scales (r = 0.169, p = 0.002). Participants' GLAC familiarity and knowledge scores increased as their decisional conflict scores decreased, and GLAC familiarity and knowledge scores increased as their SURE scale scores increased. There was negative, moderate evidence of a relationship between the DCS and SS (r = −0.433, p < 0.001). The DCS scores of participants increased as their SS scores decreased. There was positive, moderate evidence of a relationship between the GLAC familiarity and GLAC knowledge scales (r = 0.419, p < 0.001; Table 5). The GLAC familiarity scores of participants increased as their GLAC knowledge scores increased.
| Scales | DCS | SS | GLAC | |||||
|---|---|---|---|---|---|---|---|---|
| Familiarity | Knowledge | |||||||
| r | p a | r | p a | r | p a | r | p a | |
| DCS | −0.433 | <0.001 | −0.177a | 0.001 | 0.102 | 0.066 | ||
| SS | −0.433a | <0.001 b | 0.169a | 0.002 | 0.056 | 0.316 | ||
| GLAC | ||||||||
| Familiarity | −0.177a | 0.001 | 0.169a | 0.002 | 0.419 | <0.001 | ||
| Knowledge | 0.102 | 0.066 | 0.056 | 0.316 | 0.419 | <0.001 | ||
- a Correlation is significant at the 0.01 level.
- b A p < 0.05 value was accepted as statistically significant.
4 DISCUSSION
The need for understanding genetic information has arisen due to integrating genomic information into healthcare services. Pregnant individuals are one of the groups most exposed to genetic information during pregnancy. Therefore, this study aimed to assess pregnant individuals' genetic literacy and decisional conflict about prenatal screening tests.
In this study, more than half of the pregnant individuals received information about prenatal screening tests, and most received it from their physicians. A qualitative study conducted with pregnant Hispanic women to determine the knowledge of prenatal genetic testing reported that pregnant women needed more information about the tests (Page et al., 2021). In the literature similar to our findings, information regarding prenatal tests was provided mostly by physicians (Seven et al., 2017, 2019). To support pregnant individuals in making informed decisions about prenatal testing, all healthcare professionals who provide antenatal care for pregnant individuals, such as nurses, midwives, and genetic counselors, should take part in providing information about prenatal tests and available options.
This study found that first-trimester combined and triple tests were the most frequently known tests by participants. The first trimester combined screening and triple tests are the most recommended tests in Turkey, which is why participants mostly knew these tests. A study conducted on a group of Hispanic pregnant women reported a lack of knowledge regarding test names and types (Chen & Cheng, 2020; Page et al., 2021). Pregnant individuals must understand the limitations and strengths of prenatal tests and what conditions they can detect. To help pregnant individuals decide which test to take, healthcare professionals should provide information about all prenatal test options to support their informed decision-making.
Half of the pregnant individuals stated that they underwent prenatal screening tests in their current pregnancy. A study conducted in Turkey also found that only half of pregnant women have prenatal screening tests during pregnancy (Seven et al., 2017). In Turkey, health insurance covered full prenatal screening tests (except cell-free DNA testing), and approximately our entire sample had health insurance. However, prenatal screening test uptake among pregnant individuals was low. We thought that some pregnant individuals may not be aware of which prenatal tests they underwent. Therefore, that can be the reason that only half of the respondents reported prenatal screening uptake. In some cases, the pregnant individuals had been aware that they had undergone a prenatal screening test after receiving a positive result. It is very late to inform pregnant individuals about the tests' aim, limitations, and benefits of testing and to discuss the results with pregnant women after they have received a positive result. This finding indicates a problem regarding making an informed decision about testing.
According to our study, the most common reason stated by participants for not having prenatal screening is a lack of knowledge about the tests. In the literature, it was found that inadequate knowledge regarding prenatal screening tests increased decisional conflict (Yeşilçinar et al., 2021; Yeşilçınar & Güvenç, 2021). This result makes us think that informing pregnant individuals about the tests will increase the number of pregnant individuals benefiting from prenatal tests. In a study conducted by Sullivan et al. (2019), more information about prenatal tests increased the willingness to receive genetic information from pregnant women.
Non-employed pregnant individuals' being sure of their decisions, familiarity with genetic terms, and genetic knowledge levels were found to be low compared with employed pregnant individuals. It is assumed that this result may be due to the higher education levels and active work life of the employed individuals. Thanks to their active work lives, they are most likely to learn from their peers who have experienced pregnancy. Pregnant individuals with university and higher educational levels, familiarity with genetic terms, and genetic knowledge levels were higher than lower educated pregnant individuals. Studies examining pregnant women's views on prenatal screening tests found that pregnant women with higher educational levels sought more information about prenatal screening tests (Abdo et al., 2018; Sullivan et al., 2019). A study conducted by Seven et al. (2019) found that pregnant women with high educational levels had higher genetic literacy levels. The level of genetic knowledge was higher among individuals who were pregnant for the first time and whose current pregnancy was planned. A similar finding was found in Seven et al. (2019). In this study, the increased level of genetic knowledge among primiparous individuals was a surprising finding. Compared to the multiparous individuals, the primiparous individuals were younger and willing to learn more about pregnancy and their babies. Therefore, the tendency of primiparous individuals to learn more may explain their increased genetic literacy. In line with these findings, appropriate interventions should be planned to support informed decision-making and to increase the genetic knowledge levels of pregnant individuals with a low level of education, unemployed, and who have unplanned pregnancies. In this study, we found no difference between the participants' age groups and the DCS, SS, and GLAC scale scores. We thought that individuals with advanced maternal age would most likely be informed about testing options, which could affect their decisional conflict and genetic literacy levels, but the information provided may not be understood completely by the pregnant individuals.
Decisional conflict levels of the pregnant individuals who received information regarding prenatal screening tests were higher than those who did not take the information. A study determined high decisional conflict after genetic counseling in high-risk pregnant individuals (Hartwig et al., 2019). We thought that the increase in decisional conflict might be due to the increased awareness of individuals who received information about prenatal tests. In this study, the status of getting information about prenatal tests of pregnant individuals was measured by using closed-ended (yes/no) questions. We did not evaluate how much information the participants received about the prenatal screening tests. For this reason, it is suggested that the increased decisional conflict among those who received information about testing may be due to not understanding the information given. Besides, a study reported decreased decisional conflict after taking information regarding test options (Boland et al., 2017). The differences in results may be explained by the different populations in which the studies were conducted. In our study, participants who had prenatal screening tests in their current pregnancy had a lower decisional conflict, were more familiar with genetic terms, and were sure of their decisions. In a study, the pregnant women's decisional conflict levels were compared between those who underwent cell-free DNA testing and those who did not undergo it, and no significant difference was found regarding the decisional conflict levels of the pregnant women (Lo et al., 2019). Differences in prenatal genetic counseling practices between countries may explain the differences in these results.
Studies showed a lack of sufficient genetic knowledge in the general population, and some socio-demographic factors, such as education, age, and income, may affect genetic literacy levels (Kaphingst et al., 2016; Krakow et al., 2017). Studies investigating pregnant individuals' genetic literacy are limited in literature (Halliday et al., 2018; Page et al., 2021; Seven et al., 2019). A study assessing pregnant women's genetic literacy levels reported low genetic literacy in Turkish pregnant women (Seven et al., 2019). According to Page et al.'s study, conducted on a highly educated group of pregnant women, the genetic literacy levels of pregnant women were found to be low (Page et al., 2021). However, according to our study results, the genetic literacy levels of pregnant individuals were found to be moderate (5.6/7). The differences between the studies may be because they were conducted in different populations, and pregnant individuals' awareness regarding genetic terms may be increased over time. This study found that pregnant individuals were mostly familiar with genetic, chromosome, susceptibility, and mutation terms; variation and sporadic terms were the less known. “A genetic disease that occurs without a family history is considered sporadic” was the less-known question by participants (33%). Seven et al.'s study found similar findings to this study (Seven et al., 2019). Although the questions on the GLAC scale consist of basic genetic terms, there are still some gaps in genetic knowledge among pregnant individuals.
It is well known that social determinants of health influence awareness, knowledge, and understanding of genetic information (Zhong et al., 2021). The present study also found that genetic literacy is a key factor influencing pregnant individuals' understanding of genomic information and decreasing decisional conflict regarding uptaking tests and/or testing options. Therefore, healthcare providers and genetic counselors should be aware that pregnant individuals may perceive genomic information as complex, particularly when unfamiliar terms such as “variation” and “sporadic” are used. While the GLAC scale measures understanding basic genetic terms, more complex terms may be used during genetic counseling sessions. Hence, it is important to assess pregnant individuals' understanding of the information provided.
The present study found that when pregnant individuals' familiarity with genetic terms increased, decisional conflict levels regarding prenatal screening tests decreased, and they were surer of their decisions. To increase the uptake and understand the benefits of prenatal testing, more patients have the opportunity to meet with genetic counselors to discuss their testing options. It is well known that educational interventions regarding prenatal tests positively contribute to pregnant individuals' decision-making (Yeşilçinar et al., 2021). According to our study results, in addition to tailored interventions to facilitate decision-making, it is recommended that the genetic literacy of pregnant individuals should be increased to decrease the decisional conflict regarding prenatal screening tests. This study found that increased genetic literacy decreased decision conflict, but pregnant individuals informed about testing options had increased decisional conflict. These results highlighted the importance of individuals' understanding of the information provided. Genetic literacy clearly facilitates pregnant individuals' understanding of information about prenatal testing. Therefore, while healthcare providers provide information, it is crucial to confirm the individuals' understanding of the topic and clarify their questions.
This study has some limitations and strengths. The results cannot be generalized to all pregnant individuals. The results are based on patient reports and were not verified. The prenatal testing offered to participants was not confirmed, and some patients may have had testing ordered by their provider but not been informed. According to our knowledge, this is the first study that evaluated the relationship between pregnant individuals' decisional conflict and genetic literacy levels regarding prenatal screening tests. Due to the fact that this is the first study, there were very limited studies in the literature that could compare and discuss our results.
5 CONCLUSIONS
This study found that only half of the participants underwent prenatal screening tests in their current pregnancy. Employed, primiparous, and who had planned pregnancy were sure of their decisions and had higher genetic literacy levels. According to our study, the genetic literacy levels of pregnant individuals were found to be moderate, and there are genetic knowledge gaps among pregnant individuals. As genomic information plays a vital role in healthcare services, it is important to focus on improving the genetic literacy of pregnant individuals. The results presented in this study indicate genetic literacy related to decisional conflict. Increasing the genetic literacy of pregnant individuals can be effective in understanding the information provided about prenatal genetic tests and reducing decisional conflict. The DCS and SS scales can be used to assess pregnant individuals' informed decision-making before undergoing prenatal tests. The SS, in particular, is a very short and rapidly applicable tool for use in clinical settings. Besides, the effect of genetic literacy on decisional conflict regarding prenatal testing can be more clearly demonstrated with randomized controlled trials. There is also a need for further research to be able to do international comparisons.
AUTHOR CONTRIBUTIONS
The first author, IY, was responsible for the manuscript's initial drafting, data analysis, acquisition of data, analysis, and interpretation of data. Authors ES and SOT contributed significantly to the study's design and the revision and approval of the manuscript. All authors are responsible for the integrity of the data and methodology used in this manuscript.
ACKNOWLEDGMENTS
The authors thank the participants in this study.
CONFLICT OF INTEREST STATEMENT
All authors declare that they have no conflicts of interest.
ETHICS STATEMENT
Human Subjects and Informed Consent: This study was approved by the Giresun University Clinical Researches Ethical Board (Decision number 26, Date: 18.03.2021). All procedures followed were in accordance with the ethical standards of the responsible committee and with the Helsinki Declaration of 1975, as revised in 2000. Each pregnant woman was informed about the study's aim, and written informed consent was obtained.
Animal Studies: No non-human animal studies were carried out by the authors of this article.
Open Research
DATA AVAILABILITY STATEMENT
The study data can be shared upon request.
