Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome

IntroductionPrenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility.ObjectiveTo explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus.MethodsAll 85 parents of individuals with PWS were interviewed regarding their attitudes towards PND and TOP using semi-structured questionnaire.ResultsFifty-seven parents were supportive of invasive PND and 28 of non-invasive tests only; none opposed PND. Thirty eight favored TOP, additional 31 supported TOP under certain conditions such as spiritual advice, 15 were categorically against TOP. Attitudes correlated with religiosity (p < 0.025), mother's education (p < 0.001), mother's work status (p < 0.001), current age of the child with PWS (p < 0.008). Couples had similar attitudes regarding PND and TOP. No correlation was found with gender, genetic subtype and parental age.ConclusionsMost parents of individuals with PWS support PND, however less than half support TOP. Religiosity was the most influential factor. Familial worldview should be taken into account during prenatal counseling.     

Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

PurposeWe aimed to assess the clinical value of prenatal testing for cystic fibrosis (CF) and whether ethical considerations would affect endpoint selection.MethodsTo determine effectiveness, we conducted a systematic literature review whose protocol outlined search strategies across eight databases, study inclusion criteria, and prespecified literature screening, data extraction, and synthesis processes. We conducted a scoping search on ethical considerations.ResultsThe genetic test showed good diagnostic performance. A change in clinical management was observed: termination of pregnancy (TOP) occurred in most cases where two pathogenic variants were identified in a fetus of carrier parents (158/167; 94.6%). The TOP rate was lower in pregnancies where CF was diagnosed after fetal echogenic bowel detection (~65%). TOP and caring for a child with CF were both associated with poor short-term parental psychological outcomes. Ethical analyses indicated that informed decisions should have been the main endpoint, rather than CF-affected births prevented.ConclusionCF testing leads to fewer CF-affected births. It is difficult to assess whether this means the test is valuable, since patients may not value TOP primarily in terms of maternal or fetal health outcomes, psychological or otherwise. The value of testing should arguably be measured in terms of improving patient autonomy rather than health.     

Autism genetic testing: a qualitative study of awareness,attitudes, and experiences among parents of children with autism spectrum disorders

PurposeThe goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.MethodsWe conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.ResultsApproximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.ConclusionAs health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents’ awareness, attitudes, and experiences regarding autism genetic testing.Genet Med 2013:15(4):274–281     

The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository

PurposeLittle is known about parental attitudes toward return of individual research results (IRRs) in pediatric genomic research. The aim of this study was to understand the views of the parents who enrolled their children in a genomic repository in which IRRs will be returned.MethodsWe conducted focus groups with parents of children with developmental disorders enrolled in the Gene Partnership (GP), a genomic research repository that offers to return IRRs, to learn about their understanding of the GP, motivations for enrolling their children, and expectations regarding the return of IRRs.ResultsParents hoped to receive IRRs that would help them better understand their children’s condition(s). They understood that this outcome was unlikely, but hoped that their children’s participation in the GP would contribute to scientific knowledge. Most parents wanted to receive all IRRs about their child, even for diseases that were severe and untreatable, citing reasons of personal utility. Parents preferred electronic delivery of the results and wanted to designate their preferences regarding what information they would receive.ConclusionIt is important for researchers to understand participant expectations in enrolling in a research repository that offers to disclose children’s IRRs in order to effectively communicate the implications to parents during the consenting process.Genet Med 2012:14(3):330–337     

Caregiver opinions about fragile X population screening

PurposeWe sought to determine caregiver perceptions about population screening for fragile X and to examine factors potentially associated with support for screening.MethodsWe asked 1,099 caregivers of a child with fragile X syndrome or a fragile X carrier to rate whether free, voluntary screening should be offered preconception, prenatally, neonatally, or when problems occur. Caregivers chose a preferred time for screening, reported whether screening would affect parent–child bonding, indicated preferences for carrier detection, and gave reasons for their choices.ResultsCaregivers endorsed all forms of screening, but prenatal screening was less strongly endorsed than preconception or postnatal screening. Most (79%) preferred preconception carrier testing, allowing more options when making reproductive decisions. Most thought that screening should also disclose carrier status and believed a positive screen would not negatively affect parent–child bonding. Maternal education, caregiver depression, family impact, and severity of disability were not associated with screening opinions, but parents who only had carrier children were less likely to endorse prenatal screening.ConclusionCaregivers of children with fragile X widely endorse screening. However, because different parents will make different choices, screening may need to be offered at multiple times with careful consideration of consent and informed decision-making.Genet Med 2012:14(1):115–121.     

Parenting a child with chronic illness as they transition into adulthood: A systematic review and thematic synthesis of parents’ experiences

ObjectiveTo understand how parents view and experience their role as their child with a long-term physical health condition transitions to adulthood and adult healthcare services.MethodsFive databases were systematically searched for qualitative articles examining parents’ views and experiences of their child’s healthcare transition. Papers were quality assessed and thematically synthesised.Results: Thirty-two papers from six countries, spanning a 17-year period were included. Long-term conditions were diverse. Findings indicated that parents view their child’s progression toward self-care as an incremental process which they seek to facilitate through up-skilling them in self-management practices. Parental perceptions of their child’s readiness, wellness, competence and long-term condition impacted on the child’ progression to healthcare autonomy. A lack of transitional healthcare and differences between paediatric and adult services served as barriers to effective transition. Parents were required to adjust their role, responsibilities and behaviour to support their child’s growing independence.ConclusionParents can be key facilitators of their child’s healthcare transition, supporting them to become experts in their own condition and care. To do so, they require clarification on their role and support from service providers.Practice implicationsInterventions are needed which address the transitional care needs of parents as well as young people.     

‘More than a box of puzzles’: Understanding the parental experience of having a child with a rare genetic condition"

BackgroundChromosomal microarray (CMA) testing has been adopted as the first-tier diagnostic test for developmental disabilities. However, determining the clinical significance of the results is often complex. This qualitative study seeks to explore parental interpretation, adaption and coping in the context of ambiguous rare genetic findings in order to support parental adjustment and wellbeing.MethodsIn-depth interviews were conducted with parents (n = 30) of children identified with a rare genetic chromosomal abnormality.ResultsThree major themes were identified following a thematic analysis: ‘Learning of the Genetic Diagnosis', “The Reality of the Rarity’ and ‘Beyond Genetics: The Child Takes Centre Stage’. Findings demonstrated that parental adjustment to their child's genetic results are mediated by several factors including child difficulties and stage of development, clinician communication, perception of genetics, intrinsic coping strategies, access to practical and emotional support as well as broader contextual experiences.ConclusionThis study highlights the importance of considering the parental perspective in the context of genetic testing in clinical practice.     

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

PurposeThe potential for utilizing whole-genome sequencing in newborn screening (NBS) has been recognized, but the ethical, legal, and social issues of this may require further analysis. This article begins to address the gap in the literature concerning psychosocial effects of “genomic NBS,” focusing on later effects of screening for genetic susceptibility to a single, complex disorder: type 1 diabetes (T1D). It also examines parental attitudes toward potential future expansions of NBS.MethodsFifteen semistructured interviews were conducted with parents of children who had been tested for genetic susceptibility to T1D 12 years previously.ResultsParents in this study were not psychologically burdened by knowledge of their child’s genetic risk but perceived little benefit. Most of these parents disclosed the result to their child at age 12 years without obvious adverse impact. Parents were unenthusiastic about potential future expansions of NBS to include similar genomic tests.ConclusionsAbsence of adverse psychosocial effects and ease of disclosure to the child represent initial positive findings, but they require replication and further evaluation in relation to uptake of prevention strategies. Attitudes of parents to “genomic NBS” are variable, suggesting that parental choice will be an important component of future screening programs.     

Social class and parenting children with mild and moderate mental retardation.

Based on Kohn's (1977) and Gecas' (1979) theories of social class and parenting values, the role of socioeconomic status (SES) as a determinant of parenting attitudes and behaviors and as a moderator of problems associated with raising children with handicaps was evaluated among 171 families raising a child with mild or moderate mental retardation. Self-report measures assessed mothers' and fathers' attitudes regarding control, independence, and closeness within the family, and parental and family problems. Supportive, aversive, and controlling parent-child interactions were observed in the home. As expected, higher SES was associated with parental attitudes and behaviors related to fostering independent initiative in the family, and lower SES parents exhibited relatively more controlling and negative behaviors. However, regardless of SES, controlling parental behaviors also were responsive to the level of functioning of the child with mental retardation. Consistent with an hypothesis about violations of SES-related values, negative and controlling interactions with the child were more highly correlated with the parents' reports of parental and family problems for upper SES as opposed to lower SES parents. Several models of SES and family adaptation are discussed.     

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families

Treacher Collins syndrome (TCS) is a craniofacial syndrome that is both phenotypically variable and heterogeneous, caused by mutations in the TCOF1, POLR1C, and POLR1D genes. We examined attitudes towards TCS prenatal genetic testing among affected families using a telephone questionnaire. Participants were 31 affected adults and relatives recruited primarily through families cared for in the mid-Atlantic region. Nineteen participants (65%) reported that they would take a TCS prenatal genetic test which could not predict degree of disease severity. Interest in TCS genetic testing was associated with higher income, higher concern about having a child with TCS, lower religiosity, lower concern about genetic testing procedures, and having a sporadic rather than familial mutation. Over half reported that their decision to have TCS genetic testing would be influenced a great deal by their desire to relieve anxiety and attitudes toward abortion. Ten participants (32%) reported that they would be likely to end the pregnancy upon receiving a positive test result; this was lower amongst TCS affected individuals and higher amongst participants with children with TCS. Genetics healthcare providers need to be aware of affected individuals' and families' attitudes and interest in prenatal genetic testing for TCS, and the possible implications for other craniofacial disorders, so that patients' information needs can be met.     

Pathways from autism spectrum disorder diagnosis to genetic testing

PurposeThis study examined challenges faced by families and health providers related to genetic testing for autism spectrum disorder (ASD).MethodsThis qualitative study of 14 parents and 15 health providers identified an unstandardized three-step process for families who pursue ASD genetic testing.ResultsStep 1 is the clinical diagnosis of ASD, confirmed by providers practicing alone or in a team. Step 2 is the offer of genetic testing to find an etiology. For those offered testing, step 3 involves the parents’ decision whether to pursue testing. Despite professional guidelines and recommendations, interviews describe considerable variability in approaches to genetic testing for ASD, a lack of consensus among providers, and questions about clinical utility. Many families in our study were unaware of the option for genetic testing; testing decisions by parents appear to be influenced by both provider recommendations and insurance coverage.ConclusionConsideration of genetic testing for ASD should take into account different views about the clinical utility of testing and variability in insurance coverage. Ideally, policy makers from the range of clinical specialties involved in ASD care should revisit policies to clarify the purpose of genetic testing for ASD and promote consensus about its appropriate use.     

Prenatal counseling in extreme prematurity - Insight into preferences from experienced parents

ObjectiveIn-depth analysis of parental preferences in prenatal counseling in extreme prematurity.MethodsA nationwide qualitative interview study among experienced parents of extremely premature babies born at 24^+0/7 – 24^+6/7 weeks of gestation. Semi-structured interviews were held until saturation, transcribed and qualitatively analyzed to search for parental counseling preferences.ResultsThirteen parents were included, most parents decided on active care. Organisation: Parents wanted counseling as soon as possible, and for various reasons they wanted more than one conversation. Supportive material to help visualize complex information was suggested to be helpful, preferably with adjustable levels of detail. An empathetic, honest style with commitment of the counselor was regarded important. Content: Understandable statistics should be used for those who want it. Parents needed different information with respect to the decision-making as opposed to being prepared for future situations. Decision-making: The preferred share of parents’ and doctors’ input in decision-making varied among parents and among situations. Parents expressed that their roles were to take responsibility for and protect their infant.ConclusionsVarious parental preferences for prenatal counseling were found.Practice implicationsCommon parental preferences for the organisation, content and decision-making elements can provide a starting point for personalized prenatal counseling.     

The efficacy of VIPP-V parenting training for parents of young children with a visual or visual-and-intellectual disability: a randomized controlled trial

Video-feedback Intervention to promote positive parenting-visual (VIPP-V) or visual-and-intellectual disability is an attachment-based intervention aimed at enhancing sensitive parenting and promoting positive parent–child relationships. A randomized controlled trial was conducted to assess the efficacy of VIPP-V for parents of children aged 1–5 with visual or visual-and-intellectual disabilities. A total of 37 dyads received only care-as-usual (CAU) and 40 received VIPP-V besides CAU. The parents receiving VIPP-V did not show increased parental sensitivity or parent–child interaction quality, however, their parenting self-efficacy increased. Moreover, the increase in parental self-efficacy predicted the increase in parent–child interaction. In conclusion, VIPP-V does not appear to directly improve the quality of contact between parent and child, but does contribute to the self-efficacy of parents to support and to comfort their child. Moreover, as parents experience their parenting as more positive, this may eventually lead to higher sensitive responsiveness and more positive parent–child interactions.     

Communicating with parents in neonatal intensive care units: The impact on parental stress

ObjectiveTo analyse stress in parents whose infants with very low birth weight have just concluded high-level care in a Neonatal Intensive Care Unit (NICU). More specifically, we aimed 1) to identify groups of parents in the NICU who are particularly at risk of experiencing stress, and 2) to explore the effects of clinical staffś communication on parental stress.MethodsOur multi-center-study evaluated views from 1277 parents about care for 923 infants in 66 German NICUs. Answers were linked with separately evaluated medical outcomes of the infants. Separate generalised mixed models estimated the influence of personal, medical and communication-related characteristics on specific parental stress.ResultsParents of a younger age and those of infants with severe prognoses were more likely to experience stress. While empathetic communication as one aspect of staffś communication was shown as appropriate in reducing parental stress, an initial introduction and the quantity of information were only slightly associated with lower levels of stress.ConclusionResults provide evidence for the need to involve parents empathetically from the beginning of their child’s stay in the NICU.Practice implicationsStaff in the NICU should communicate empathetically and help to reduce stress in parents particularly at risk.     

Family well‐being and disabled children: A psychosocial model of disability‐related child behaviour problems

Background: When parents receive a diagnosis that their child is disabled, many families adjust to this healthily and cope well, but others do not. Feelings of hopelessness, social isolation of the family within the community and child behaviour problems have all been reported. While utilization of social support systems is well documented in the literature as being a significant factor in family coping and adjustment to the child's disability, less attention has been focused on the role of psychological factors. Objective: This theoretical study aims to address this inbalance by integrating perspectives from a social model of disability with psychological research on the role of cognitive change in families' coping and adjustment to having a disabled child, and thus to produce a new psychosocial model of disability‐related child behaviour problems. Method: Negative societal attitudes to disability identified by a social model of disability are interpreted with respect to how they might translate to parent views of their disabled child within the family. Resultant parenting beliefs and their possible implications for family interaction, child behaviour and family health and well‐being are explored within this new framework. Conclusions: The psychosocial model of disability‐related child behaviour problems provides a useful conceptual framework that has both clinical and research implications for professionals working with families with disabled children.     

Women’s experiences receiving abnormal prenatal chromosomal microarray testing results

PurposeGenomic microarrays can detect copy-number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy-number variants are currently unknown. We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting.MethodsParticipants were a subset of women participating in a multicenter prospective study “Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis.” Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results.ResultsWe found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge.ConclusionAs prenatal microarray testing is increasingly used, uncertain findings will be common, resulting in greater need for careful pre- and posttest counseling, and more education of and resources for providers so they can adequately support the women who are undergoing testing.Genet Med 2013:15(2):139–145     

Ethnocultural variables and attitudes toward cultural socialization of children

Cultural socialization is the transmission of cultural values and norms to one's children. The current study presents a new scale to assess parental socialization attitudes to both the U.S. American culture and the Latino culture. The scale is based on a social cognitive model of cultural socialization and cultural values of independence and interdependence. It was hypothesized that individuals who have lower acculturation, more recent generation level, and higher Mexican identity would have higher scores on the Latino cultural socialization scale and lower scores on the U.S. American cultural socialization scale. A sample of parents who were college students completed a survey, which included ethnocultural variables and the cultural socialization scale (CSS). A MANOVA with criterion variables, U.S. American cultural socialization and Latino cultural socialization, and the following predictor variables: acculturation level, generation level, Mexican identity, White American identity, and socioeconomic status. Results indicate that the scale is reliable and partially support the hypotheses that ethnocultural variables influence attitudes toward cultural socialization of children; thus providing some evidence for construct validity. Less acculturated parents emphasize socialization into both the Latino culture and the U.S. culture. Individuals with high Mexican cultural identity were more likely to agree with the Latino socialization items. Further research is needed to investigate the implications for biculturality if parents socialize their children to more than one culture. © 2000 John Wiley & Sons, Inc.     

The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review

PurposeGenes associated with nonsyndromic hearing loss are commonly included in reproductive carrier screening panels, which are now routinely offered in preconception and prenatal care in many countries. However, there is debate whether hearing loss should be considered a medical condition appropriate for screening. This systematic review assessed research on opinions of those with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting.MethodsSearch of 5 online databases yielded 423 articles, 20 of which met inclusion criteria. We assessed the quality of each study, extracted data, and performed thematic analysis on qualitative studies.ResultsMost studies indicated interest in the use of prenatal diagnosis for deafness. However, there were mixed views, and sometimes strongly held views, expressed regarding the reproductive options that should be available to those with an increased chance of having a child with deafness. Studies were small, from a limited number of countries, and most were too old to include views regarding preimplantation genetic testing.ConclusionThere is a broad range of views regarding the use of reproductive options for deafness. Further research is essential to explore the benefits and harms of including nonsyndromic hearing loss genes in carrier screening.