Attitudes Towards Prenatal Genetic Counseling,Prenatal Genetic Testing,and Termination of Pregnancy among Southeast and East Asian Women in the United States

Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.     

Acceptability of Prenatal Diagnosis by a Sample of Parents of Sickle Cell Anemia Patients in Cameroon (Sub-Saharan Africa)

Little is known about attitudes of parents of Sickle Cell Anemia patients in sub-Saharan Africa regarding prenatal genetic diagnosis and termination of an affected pregnancy. In this study, structured face-to-face interviews were conducted with a sample of 130 parents in Cameroon that had at least one living child with Sickle Cell Anemia. The majority of participants lived in urban areas (89%), were female (80%), Christian (93%), married (60.2%) in monogamous households (81.1%), were employed (61.7%), and had at least a secondary or tertiary education (82%). The majority of parents accepted the principle of prenatal genetic diagnosis for Sickle Cell Anemia (89.8%) and termination of pregnancy (62.5%). Acceptance of the principle of pregnancy termination increased with unemployment (p < .01) and single marital status (p < .05). The results of this study suggest Cameroonian parents with children affected with Sickle Cell Anemia generally accept the principles of prenatal diagnosis and in some cases termination of a pregnancy affected with Sickle Cell Anemia. Additional findings, policy and practice implications, and research recommendations are presented.     

The Experience of Genetic Counselors Working with Patients Facing the Decision of Pregnancy Termination after 24 Weeks Gestation

Prenatal genetic counselors are health care professionals who counsel women making reproductive decisions which include decisions such as terminating pregnancies due to fetal anomalies. Little is known about the experiences and practices of prenatal genetic counselors working with women who have the option of termination after 24 weeks gestation. In this national survey of 168 genetic counselors who have practiced prenatal genetic counseling, we asked about their general practice patterns, including indications for which termination is offered and types of abortion care services that are coordinated by genetic counselors. We report respondents’ self-assessments of level of understanding of federal abortion law and abortion procedures. Seventy-six percent of respondents have offered and counseled on termination after 24 weeks and 93% of respondents believe it is the responsibility of the counselor to discuss this option with patients. However, one-third report that they have some or no understanding of the procedures and three-quarters report that they have some or no understanding of federal abortion law. The results of this study provide insight into knowledge and experiences of genetic counselors working with these patients, allowing for improved genetic counselor training and continuing education to provide better guidance and develop more effective means of assisting patients.     

Prenatal Genetic Testing: An Investigation of Determining Factors Affecting the Decision-Making Process

Despite the increase in popularity of prenatal genetic testing, relatively little is known about the role psychological factors play in the decision-making process. In this analogue study, a sample of Italian female university students was used to investigate determining factors that predict the intention of undergoing prenatal genetic testing. Structural Equation Modelling was used to describe the dynamic interplay between knowledge, beliefs, attitudes and health-related behaviour such as prenatal genetic testing. Following the Theory of Reasoned Action, three dimensions predicted the intention to undergo prenatal genetic testing: the need for more scientific information, a positive attitude towards genetic testing, and the inclination to terminate pregnancy after receiving a positive test result. Results showed that less religious women tended to be more in favour of prenatal tests and in undertaking such tests. This preliminary study provides genetic counsellors and policy makers with a clearer picture of their clients’ motives and attitudes behind the decision-making process of prenatal genetic testing, contributing to improving both the communication process between counsellors and their clients and the organization of genetic services.     

Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease,Thalassaemia and Cystic Fibrosis

In the near future the availability of non-invasive prenatal diagnosis (NIPD) for single gene disorders will change the prenatal diagnosis options available to couples who are carriers of conditions such as cystic fibrosis, sickle cell disorder and thalassaemia. Client opinions about NIPD are needed to inform the implementation of NIPD for single gene disorders. This qualitative study used two focus groups (n?=?12) and one-to-one interviews (n?=?16) with carriers and support group representatives of sickle cell disease, thalassaemia and cystic fibrosis. Discussions were digitally recorded, transcribed verbatim and analysed using thematic analysis. Opinions about NIPD were very positive and participants valued the opportunity to have safe and early testing. Uptake of prenatal testing is likely to increase as women who had previously declined invasive testing expressed interest in having NIPD. Participant concerns about NIPD centred on the need for accuracy to be high to be used for subsequent decision making about termination of pregnancy. Participants also raised concerns that less thought may be given to having a blood test compared to an invasive test and that the perceived ease of a blood test may bring increased pressure to have testing. Participants thought NIPD should be offered through existing specialist services to ensure appropriate genetic counseling and support. Maintaining all testing options is important as some people may prefer invasive testing over NIPD if invasive testing was more accurate or if invasive testing could give information about other conditions such as Down syndrome.     

Decisions About Testing and Termination of Pregnancy for Different Fetal Conditions: A Qualitative Study of European White and Pakistani Mothers of Affected Children

The aim of this study is to explore reasons for and against prenatal testing and termination for a range of conditions in women from two different ethnic backgrounds. A total of 19 Pakistani and European women in West Yorkshire, UK, who either had a child with a genetic condition or had terminated a pregnancy for one, completed a questionnaire about their attitudes regarding prenatal testing and termination for 30 different fetal conditions and were interviewed about their reasons for their responses. There were more similarities than differences between the Pakistani and European white women. The most important factor in most women’s decisions about termination of pregnancy was their perception of the quality of the life of a child with the genetic condition, in particular, whether the child would be “suffering.” This was described as either physical suffering, as a result of medical treatment, or as emotional suffering, as a result of psychological and/or social factors. These findings highlight the need for detailed information about the potential quality of life for the child and the child’s family to enable parents to make informed choices, particularly the extent to which the child is likely to suffer, the nature of such potential “suffering” and the extent to which the child could lead a “normal” life. The findings also challenge stereotypes about cultural differences in attitudes about termination of pregnancy.     

Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease

Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors’ initial expectations of at-risk patients’ beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.     

Genetic Counseling for Fetal Abnormalities in a South African Community

Fetal abnormalities are congenital abnormalities identified prenatally. Women who have a fetal abnormality detected often have to make difficult decisions regarding continuation or termination of the pregnancy. The aims of this research project were: to investigate some of the factors that influenced the decision to terminate a pregnancy in which fetal abnormalities were diagnosed; and to determine the implications for genetic counseling practice in South Africa. The study was retrospective and file-based. A total of 171 women counseled for fetal abnormalities, between 2002 and 2006, were identified and relevant data were collected from their records. Altogether 116/170 (68.2%) women were offered termination of pregnancy, and 73/113 (65%) requested the procedure. Early gestation, gestation at the time termination was offered, and ethnicity of the patient, were significantly associated with a termination request. Black patients were less likely to request termination, but more likely to receive a late diagnosis than other patients. Genetic counselors need to adopt an advocacy and educational role to improve this situation. Furthermore, a better understanding of the cultural and ethnicity-related issues is required.     

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities

The objective of this study was to identify variables that may influence the decision to terminate or continue a pregnancy affected by a chromosome abnormality. We performed a retrospective cohort analysis of 286 pregnancies diagnosed with a chromosome abnormality following genetic counseling and prenatal diagnosis. Data obtained included procedure type, chromosome results, ethnicity, maternal age, use of fertility treatments, and uptake of genetic counseling after results, among other factors. Wilcoxon rank sum test, Fisher’s exact test, and univariate and multivariate logistic regression models were used for data analysis. The overall termination rate in this study was 82.9 %. A lower likelihood to terminate was found in pregnancies with a diagnosis of a sex chromosome abnormality (OR 0.05, p?<?.0001), Filipina race (OR 0.10, p?=?.03), and uptake of second genetic counseling session (OR 0.05, p?<?.0001). Prior history of termination was associated with increased likelihood to terminate (OR 8.6, p?=?.02). Factors revealing no statistically significant association with termination included maternal age, gestational age, clinic site, fetal gender, ultrasound anomalies, reason for referral and who informed the patient. Our data affirm the complexity of the decision making process and reinforce that providers should refrain from making assumptions regarding a patient’s likelihood to terminate based on factors such as maternal age, gestational age, type of procedure, or ultrasound.     

The Perceptions of Lutheran Pastors Toward Prenatal Genetic Counseling and Pastoral Care

The purpose of this study is to explore a theological perspective toward genetic counseling. A survey was sent to 207 ministers within the Evangelical Lutheran Church of America (ELCA), to determine their perspectives toward four different scenarios in a prenatal genetic counseling setting. The four different scenarios included situations involving Huntington disease, Down syndrome, trisomy 18, and anencephaly. Nearly all ELCA Lutheran pastors perceived genetic counseling as beneficial and useful and wanted to be involved in the decision-making process for whether or not to terminate the pregnancy. Their views toward termination of pregnancy varied depending on the severity of the genetic abnormality. Severity in this study was based upon life compatibility. As the severity of the genetic abnormality increased, the percentage of Lutheran pastors who viewed termination as an option increased from 23% (Down syndrome) to 62% (anencephaly). A better understanding of how spiritual leaders view genetic counseling would provide an insight into how genetics and religious beliefs together play a significant role in shaping the decisions of those faced with abnormal pregnancies.     

An Exploration of Genetic Counselors’ Needs and Experiences with Prenatal Chromosomal Microarray Testing

Because of the higher yield over traditional chromosomal analysis, chromosomal microarray analysis (CMA) is being used increasingly in prenatal diagnosis. Unfortunately, the clinical implication of many copy number variants found on prenatal CMA is uncertain, complicating genetic counseling. Recognizing that uncertain results will be encountered frequently as more of the genome is assayed prenatally, we set out to understand the experiences and needs of genetic counselors when counseling patients about uncertain prenatal microarray results, their comfort with various aspects of prenatal genetic counseling, and their interest in additional education and training about prenatal microarray testing. We first interviewed 10 genetic counselors about their experiences of providing pre- and post-test genetic counseling about prenatal CMA. Based on the findings from the counselor interviews, we developed items for a survey to assess the prevalence of genetic counselors’ attitudes towards, experience and comfort with, and educational needs regarding prenatal CMA. Based on surveys completed by 193 prenatal genetic counselors, we found that when there is an uncertain CMA result, only 59 % would be comfortable providing genetic counseling and only 43 % would be comfortable helping a patient make a decision about pregnancy termination. Being less comfortable was associated with seeing fewer patients having prenatal CMA testing. Respondents expressed a high degree of interest in additional education about prenatal CMA and counseling about uncertain results. Further genetic counselor education and training aimed at improving counselors’ personal comfort with uncertain results and communicating about them with patients is needed.     

Associations between prenatal maternal mental health indices and mother–infant relationship quality 6 to 18 months’ postpartum: A systematic review

Maternal mental disorders can significantly impact on children's psychosocial and psychological development, incurring substantial ongoing economic and personal costs. A key mediating mechanism is mother–infant relationship quality (MIRQ). Research studies and perinatal mental health screening initiatives have predominantly focused on depressive symptoms and perinatal depression as predictors of MIRQ. While maternal depression is associated with suboptimal MIRQ, the findings have not been consistent. Personality characteristics are associated with parenting and proneness to depression, presenting a potential addition to prenatal mental health assessment. We conducted a systematic review of studies that have examined the link between prenatal depressive symptoms and/or personality characteristics with postnatal MIRQ. Our findings suggest that both maternal personality traits and depressive symptoms measured in early pregnancy are associated with postnatal MIRQ. A measure of personality characteristics may enhance prenatal mental health assessment, affording opportunities for targeted intervention commencing in pregnancy to improve MIRQ, parenting, maternal mental health outcomes, and infant psychosocial and psychological development, and thereby contributing to the reduction of human and economic cost burdens.     

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, as well as guidance on identifying those who are at risk. We provide considerations for cardiac surveillance in pregnancy and the post-partum period. Finally, key psychosocial issues that appraise how to best provide support to at risk women as they make informed decisions are discussed. We propose that a team approach including cardiology, maternal fetal medicine, and genetic counseling best serves this patient population. Ongoing questions addressing an evidence based approach to cardiovascular genetic conditions in pregnancy still remain. Thus, well-designed research protocols are essential to mark progress in this area.     

Attitudes Toward Cystic Fibrosis Carrier and Prenatal Testing and Utilization of Carrier Testing Among Relatives of Individuals with Cystic Fibrosis

A questionnaire and an offer of free carrier testing was mailed to 173 relatives of individuals with CF. The questionnaire addressed their knowledge of clinical and genetic aspects of CF, as well as their attitudes toward carrier testing, prenatal diagnosis, and pregnancy termination for CF. Eighty-one individuals returned the questionnaire (47%) and 50 elected carrier testing (29%). Most respondents underestimated their carrier risk (60%), but overestimated their risk to have a child with CF (63%). Most (93%) indicated they would utilize carrier testing, and 70% would use prenatal testing; however, only 7% would consider terminating a pregnancy for CF. The intention to use prenatal testing was correlated with the perceived health of the proband and whether the respondent was planning to have (more) children. The acceptability of abortion was correlated with the respondent's perceived impact or burden of CF.     

Antenatal Genetic Testing and the Right to Remain in Ignorance

As knowledge increases about the human genome,prenatal genetic testing will become cheaper,safer and more comprehensive. It is likelythat there will be a great deal of support formaking prenatal testing for a wide range ofgenetic disorders a routine part of antenatalcare. Such routine testing is necessarilycoercive in nature and does not involve thesame standard of consent as is required inother health care settings. This paper askswhether this level of coercion is ethicallyjustifiable in this case, or whether pregnantwomen have a right to remain in ignorance ofthe genetic make-up of the fetus they arecarrying. While information gained by genetictesting may be useful for pregnant women whenmaking decisions about their pregnancy, it doesnot prevent harm to future children. It isargued that as this kind of testing providesinformation in the interests of the pregnantwomen and not in the interests of any futurechild, the same standards of consent that arenormally required for genetic testing should berequired in this instance.     

Demographic and Experiential Correlates of Public Attitudes Towards Cell-Free Fetal DNA Screening

This study seeks to inform clinical application of cell-free fetal DNA (cffDNA) screening as a novel method for prenatal trisomy detection by investigating public attitudes towards this technology and demographic and experiential characteristics related to these attitudes. Two versions of a 25-item survey assessing interest in cffDNA and existing first-trimester combined screening for either trisomy 13 and 18 or trisomy 21 were distributed among 3,164 members of the United States public. Logistic regression was performed to determine variables predictive of interest in screening options. Approximately 47 % of respondents expressed an interest in cffDNA screening for trisomy 13, 18, and 21, with a majority interested in cffDNA screening as a stand-alone technique. A significantly greater percent would consider termination of pregnancy following a diagnosis of trisomy 13 or 18 (52 %) over one of trisomy 21 (44 %). Willingness to consider abortion of an affected pregnancy was the strongest correlate to interest in both cffDNA and first-trimester combined screening, although markedly more respondents expressed an interest in some form of screening (69 % and 71 %, respectively) than would consider termination. Greater educational attainment, higher income, and insurance coverage predicted interest in cffDNA screening; stronger religious identification also corresponded to decreased interest. Prior experience with disability and genetic testing was associated with increased interest in cffDNA screening. Several of these factors, in addition to advanced age and Asian race, were, in turn, predictive of respondents’ increased willingness to consider post-diagnosis termination of pregnancy. In conclusion, divergent attitudes towards cffDNA screening—and prenatal options more generally – appear correlated with individual socioeconomic and religious backgrounds and experiences with disability and genetic testing. Clinical implementation and counseling for novel prenatal technologies should take these diverse stakeholder values into consideration.     

Genetic Screening Services Provided in Turkey

In Turkey, the rate of consanguineous marriage is quite high (22–24 %) and as a result, the incidence of autosomal recessive diseases and congenital anomalies is also very high and gives rise to a serious public health problem. In the last three decades, great effort has been made to avoid increases in the prevalence of these hereditary diseases. For this purpose, population-based premarital, prenatal, neonatal and adult genetic screening programs are performed in various centers such as Community Health Centers, Early Diagnosis of Cancer and Education Centers (KETEM), Prenatal and Neonatal Departments of Universities and State Hospitals and Thalessemia Screening Centers. Such centers are staffed by health professionals including physicians, family physicians, nurses, midwives, biologists and medical geneticists. Genetic counseling is also provided to patients attending these centers after screening tests are performed. Since there are no specialized training programs for genetic counselors, genetic counseling is generally provided by doctors or medical geneticists. The aim of this paper is to give an overview of the genetic screening services provided in Turkey, the prevalence of genetic diseases and the design of intensive educational programs for health professionals.     

Survey of the Definition of Fetal Viability and the Availability,Indications, and Decision Making Processes for Post-Viability Termination of Pregnancy for Fetal Abnormalities and Health Conditions in Canada

The purpose of this study was to explore the definition of fetal viability and the availability, indications, and decision making processes for post-viability termination of pregnancy for fetal abnormalities and health conditions in Canada. An online survey of members of the Canadian Association of Genetic Counsellors, the Canadian College of Medical Geneticists, and the Canadian Society for Maternal-Fetal Medicine who provide direct counselling to, or management of, prenatal patients in Canada (total sample size 815). Results of this study showed that the majority of respondents indicated that their centre will offer post-viability termination of pregnancy (98/123; 80 %). Sixty-seven percent (68/101) of respondents reported the definition of fetal viability to be 24 weeks’ gestation. Most respondents reported that a collaborative decision making process was used to determine if post-viability termination of pregnancy would be offered (136/170; 80 %). For conditions presumed to be lethal/likely lethal, the majority of respondents would “sometimes” or “always” offer post-viability termination of pregnancy, whereas for conditions presumed to have a mild effect, the majority of respondents would “rarely” or “never” offer post-viability termination of pregnancy. Ninety percent (77/86) of respondents reported that perinatal hospice is offered as an alternative to termination of pregnancy. In conclusion, this study suggests that although post-viability termination is available in many provinces in Canada, variation in the definition of fetal viability and indications appear to exist. While these variations may lead to unequal access to post-viability termination of pregnancy across Canada, they might also represent the complexity of the decision making process and the importance of examining individual factors to ensure that the most appropriate decision is made in each case.     

MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature

The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is important for DNA methylation and gene regulation. Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia. Mild to moderate hyperhomocysteinemia has been previously implicated as a risk factor for cardiovascular disease. Further, the presence of these variants, with and without mildly elevated levels of homocysteine, has been studied in relation to several multifactorial disorders including recurrent pregnancy loss, neural tube defects and congenital anomalies, cancer, and neurodevelopmental disorders. Given this wide spectrum of purported clinical implications and the prevalence of these polymorphisms, genetic counselors may encounter questions regarding the significance of MTHFR polymorphisms in a variety of settings. Here we present a brief background of the MTHFR polymorphisms, review of the literature regarding clinical considerations, and discussion of relevant genetic counseling aspects through case vignettes. Educational resources for patients and providers are also included.