Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.

Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care (PCC). While studies in patients with cardiac conditions have revealed poorer health-related quality of life (HRQoL) and elevated emotional stress, studies in inherited cardiac conditions (ICC) seem rare. A systematic review evaluated which (specific domains of) PROMs are used in patients with ICC. From three databases (PubMed, PsychINFO, and Web of Science) quantitative studies investigating PROMs in patients with ICC were included. A Cochrane-based assessment tool was used to evaluate quality and potential risk of bias per subdomain. Data from 17 eligible articles were extracted. Among the included studies, risk of bias was predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF-12); 3 studies used a disease-specific PROM (KCCQ- cardiomyopathy and MLFHQ-heart failure). In addition to HRQoL measures, several studies used affective psychological measures (i.e., HADS, CAQ-18, IES-R, and IPQ). The mental health component of the PROMs showed lower scores overall in patients with ICC compared to population norms. Nine studies using HADS and GAD-7/PHQ-9 showed a prevalence of clinically significant anxiety (17-47%) and depression levels (8.3-28%) that were higher than the population norm (8.3% and 6.3%, respectively). HRQoL in patients with ICC is primarily assessed with generic PROMs. Results further confirmed high psychological morbidity in this population. Generic PROMS measures evaluate overall health status, but lack sensitivity to ICC-specific factors like heredity-related concerns. We propose developing a PROM specific for ICC to optimize PCC.

Patient-reported outcome measures on mental health and psychosocial factors in patients with Brugada syndrome.

AIMS: Brugada syndrome (BrS) is a hereditary arrhythmic disease, associated with sudden cardiac death. To date, little is known about the psychosocial correlates and impacts associated with this disease. The aim of this study was to assess a set of patient-reported psychosocial outcomes, to better profile these patients, and to propose a tailored psychosocial care. METHODS AND RESULTS: Patients were recruited at the European reference Centre for BrS at Universitair Ziekenhuis Brussel, Belgium. Recruitment was undertaken in two phases: phase 1 (retrospective), patients with confirmed BrS, and phase 2 (prospective), patients referred for ajmaline testing who had an either positive or negative diagnosis. BrS patients were compared to controls from the general population. Two hundred and nine questionnaires were analysed (144 retrospective and 65 prospective). Collected patient-reported outcomes were on mental health (12 item General Health Questionnaire; GHQ-12), social support (Oslo Social Support Scale), health-related quality of life, presence of Type-D personality (Type-D Scale; DS14), coping styles (Brief-COPE), and personality dimensions (Ten Item Personality Inventory). Results showed higher mental distress (GHQ-12) in BrS patients (2.53 ± 3.03) than in the general population (P < 0.001) and higher prevalence (32.7%) of Type D personality (P < 0.001) in patients with confirmed Brugada syndrome (BrS +). A strong correlation was found in the BrS + group (0.611, P < 0.001) between DS14 negative affectivity subscale and mental distress (GHQ-12). CONCLUSION: Mental distress and type D personality are significantly more common in BrS patients compared to the general population. This clearly illustrates the necessity to include mental health screening and care as standard for BrS.

'I feel that injustice is being done to me': a qualitative study of women's viewpoints on the (lack of) reimbursement for social egg freezing.

BACKGROUND: During the last decade, the possibility for women to cryopreserve oocytes in anticipation of age-related fertility loss, also referred to as social egg freezing, has become an established practice at fertility clinics around the globe. In Europe, there is extensive variation in the costs for this procedure, with the common denominator that there are almost no funding arrangements or reimbursement policies. This is the first qualitative study that specifically explores viewpoints on the (lack of) reimbursement for women who had considered to uptake at least one social egg freezing cycle in Belgium. METHODS: To understand the moral considerations of these women, drawing from twenty-one interviews, this paper integrates elements of a symbiotic empirical ethics approach and thematic analysis. RESULTS: We identify four themes: (1) being confronted with unclear information; (2) financial costs as ongoing concern; (3) necessity of coverage; (4) extent of reimbursement. In the first theme, we found that some women were concerned about the lack of clear information about the cost of social egg freezing. In the second theme, we report moral sentiments of injustice and discrimination which some women attributed to their struggles and needs not being recognised. The third theme illustrates diverse views on reimbursement, ranging from viewing social egg freezing as an elective treatment not appropriate for reimbursement to preferences for greater public responsibility and wider access. Finally, we describe the participants' varying proposals for partial reimbursement and the idea that it should not be made available for free. CONCLUSIONS: This research adds important empirical insights to the bioethics debate on social egg freezing, in particular by presenting (potential) users' views on the lack of reimbursement. While there is much more to say about the ethical and political complexities of the reimbursement of this procedure, our study highlighted the voices of (potential) users and showed that at least some of them would welcome the coverage of SEF through the public healthcare insurance.

Oocyte vitrification for elective fertility preservation: a SWOT analysis.

Oocyte vitrification, also known as egg freezing, is increasingly being used by women as a precautionary measure against the anticipated decline in fertility. In countries where this procedure is allowed, elective oocyte vitrification has become an integral part of the treatment portfolio of fertility clinics. The widespread tendency towards the postponement of motherhood and the advances in laboratory technologies are encouraging women to consider oocyte vitrification and, by doing so, increase their reproductive autonomy. However, elective oocyte vitrification, or elective egg freezing (EEF), still elicits controversy, not only when EEF is appraised from a cost-efficiency point of view, but also in terms of medical and ethical concerns. In general, although the laboratory tool of vitrification has revolutionized the treatment of infertility, the pros and cons need to be clarified when considering EEF.

Beyond individualisation: towards a more contextualised understanding of women's social egg freezing experiences.

Recently, Petersen provided in this journal a critical discussion of individualisation arguments in the context of social egg freezing. This argument underlines the idea that it is morally problematic to use individual technological solutions to solve societal challenges that women face. So far, however, there is a lack of empirical data to contextualise his central normative claim that individualisation arguments are implausible. This article discusses an empirical study that supports a contextualised reading of the normative work of Petersen. Based on a qualitative interview study, we found that most women could make sense of this argument but addressed other concerns that are overlooked in the premises of moral individualisation arguments, for instance, the influence of relationship formation on the demand of egg freezing. Furthermore, women did not experience social egg freezing as morally problematic. Nonetheless, the interviewees pointed to a need of more societal solutions and even actively advocated for efforts to increase accessibility such as a partial reimbursement and better quality of information. The implications of these findings for empirical bioethics are discussed. While more research is needed, we argue that, in order to better address individualisation arguments and related ethical concerns, we need to contextualise normative evaluations within women's moral reasoning.

A follow-up survey on the reproductive intentions and experiences of women undergoing planned oocyte cryopreservation.

RESEARCH QUESTION: What are the current reproductive attitudes and experiences of women who have previously undergone planned oocyte cryopreservation (OoC)? DESIGN: Retrospective questionnaire-based cohort study involving women who had previously undergone planned OoC between January 2009 and September 2016 at a single centre. Eligible women were contacted via e-mail and invited to complete an anonymous standardized questionnaire that had been developed to evaluate their current relationship status and reproductive situation, their attitudes towards planned OoC and their future reproductive intentions. RESULTS: Of 460 women who had completed at least one OoC cycle, questionnaires were obtained from 138 women. After a mean (± SD) follow-up of 4.5 ± 2.4 years, two-thirds of respondents (65%) anticipated using their oocytes at some point in the future. The respondents reported an overwhelmingly positive attitude towards planned OoC, with 98% indicating they would recommend this intervention to others. Overall, 83% of respondents were single at the time they requested OoC but only 44% were single at the time they completed the survey. While 43/62 (69%) of women became pregnant after undergoing OoC, the majority 30/43 (70%) of these pregnancies were achieved without using their vitrified oocytes. Finally, 13/28 (46%) who used their cryopreserved oocytes stated that they had achieved a live birth. CONCLUSIONS: The majority of women who undergo OoC do not regret their experience and many have found a partner in subsequent years. Twenty-one per cent of respondents who attempted to conceive after OoC had a live birth using their cryopreserved oocytes.

Oocyte banking for anticipated gamete exhaustion (AGE) is a preventive intervention, neither social nor nonmedical.

The scope of female fertility preservation through cryopreservation of oocytes or ovarian cortex has widened from mainly oncological indications to a variety of fertility-threatening conditions. So far, no specific universally accepted denomination name has been given to cryopreservation of oocytes or ovarian cortex for the prevention of age-related fertility decline. We argue that the commonly used phrases 'social' and 'nonmedical freezing' to denote the indication for cryopreservation are not entirely correct. We suggest 'AGE banking', as this has not only the advantage of being catchy but also depicts the exact indication for the strategy, anticipated gamete exhaustion.

Effect of ovarian stimulation and oocyte retrieval on reproductive outcome in oocyte donors.

OBJECTIVE: To assess whether there is an increased risk of infertility in women that have previously undergone ovarian stimulation and oocyte retrieval for oocyte donation. DESIGN: Cross-sectional survey. SETTING: Tertiary referral center. PATIENT(S): A total of 194 past oocyte donors. INTERVENTION(S): Telephone questionnaire. MAIN OUTCOME MEASURE(S): Incidence of infertility after oocyte donation. RESULT(S): Of the women who indicated having pursued conception after oocyte donation, 95% (57/60) became pregnant unassisted. Before oocyte donation, 41 women in this cohort had already been trying to conceive, of which 38 had delivered a child and 3 (7.3%) had needed infertility treatment. CONCLUSION(S): The data suggest that oocyte donation does not affect short-term reproductive health.

Growth and health outcome of 102 2-year-old children conceived after preimplantation genetic diagnosis or screening.

OBJECTIVE: The major objective of this study was to determine whether the embryo biopsy procedure might cause growth restriction or affect health outcome of children. STUDY DESIGN: Auxological data and physical findings were compared at birth and age 2 for 102 children (70 singletons and 32 twins) born after PGD/PGS and 102 matched children born after intracytoplasmic sperm injection (ICSI) in a prospective study. RESULTS: No statistically significant differences regarding weight, height and head circumference standard deviation scores (SDS) at birth and at age two years were observed. At two years of age the mean BMI SDS tended to be lower in PGD/PGS children (p=0.058). PGD/PGS babies had been more often breastfed (p=0.013), but mostly during a shorter time. The prevalence of major as well as minor congenital anomalies, hospital admissions and surgical interventions was similar. CONCLUSION: Children born after embryo biopsy applied in PGD/PGS present similar prenatal and postnatal growth and health outcome in the first two years of life compared to ICSI children. Up till now, PGD and PGS appear not to be associated with a higher risk for health problems.

Two-year auxological and medical outcome of singletons born after embryo biopsy applied in preimplantation genetic diagnosis or preimplantation genetic screening.

BACKGROUND: Embryo biopsy is an essential but invasive procedure to perform preimplantation genetic diagnosis (PGD) or preimplantation genetic screening (PGS). The major objective of this study was to determine whether embryo biopsy might cause post-natal growth restriction. METHODS: We compared growth data and physical findings at birth and 2 years for singletons born either after PGD/PGS (n = 70), ICSI (n = 70) or natural conception (NC) (n = 70). Children were matched for gender, maternal educational level, mother tongue and birth order. RESULTS: No significant differences were found between the three groups regarding weight, height and head circumference standard deviation scores (SDS) at birth and at age 2 years, although the PGD/PGS children tended to have a lower birthweight compared with the NC children. At 2 years, the mean BMI SDS in PGD/PGS children was significantly lower compared with NC children (P = 0.005). PGD/PGS children were more frequently born after Caesarian section than ICSI children, but had no more congenital malformations, hospital admissions and surgical interventions compared with ICSI and NC children. CONCLUSIONS: Singleton children at age 2 years born after embryo biopsy applied in PGD/PGS present a similar post-natal linear growth compared with ICSI and NC children. PGD/PGS singletons appear not to be at higher risk for congenital malformations and surgical interventions during the first 2 years of life. To date, there have been no observable detrimental effects of the PGD/PGS procedure on children.

Socio-emotional and language development of 2-year-old children born after PGD/PGS, and parental well-being.

BACKGROUND: The objective of this study was to assess socio-emotional and language development in 2-year-old children born after preimplantation genetic diagnosis (PGD) and genetic aneuploidy screening (PGS), intracytoplasmic sperm injection (ICSI) and natural conception (NC) and to assess parental well-being. METHODS: Parents of 2-year-old PGD/PGS (n = 41), ICSI (n = 35) and NC (n = 53) singleton children were recruited. The socio-emotional development of the children was assessed using the Child Behavioural Checklist (CBCL) and the Short Temperament Scale for Toddlers. Parental stress and health status was measured with the Parent Stress Index and the General Health Questionnaire. Language development was assessed with the McArthur Communicative Development Inventories. RESULTS: No differences were found for temperament, language development, parental stress or health status. The mothers in the PGD/PGS and ICSI group reported significantly fewer CBCL Total problems than their NC counterparts, whereas for the CBCL Externalizing problems, only the ICSI mothers reported fewer problems than their PGD/PGS and NC counterparts. Fathers in the ICSI group also rated their children as having fewer Externalizing and Total behavioural problems. CONCLUSIONS: PGD/PGS conception does not adversely affect children's socio-emotional and language development at age 2, nor did parents differ from ICSI and NC parents for parental stress and health status.

Mental and psychomotor development of 2-year-old children born after preimplantation genetic diagnosis/screening.

BACKGROUND: Embryo biopsy is a new invasive procedure applied in ART for diagnostic purposes in preimplantation genetic diagnosis (PGD) or to increase pregnancy rate in preimplantation genetic screening (PGS). The objective of this study is to assess mental and psychomotor developmental outcomes in 2-year-old children born after PGD/PGS, intracytoplasmic sperm injection (ICSI) and natural conception (NC). METHODS: Two-year-old PGD/PGS (n = 70), ICSI (n = 70) and naturally conceived (n = 70) singleton children were recruited. The participation rate in the NC group was 88.6% and 94.5% in both ART conception groups. The mental and psychomotor development of the children was assessed using the Dutch version of the Bayley Scales of Infant Development. The mothers were questioned about socio-demographic characteristics. RESULTS: Even after controlling for socio-demographic variables, no differences were found between the three conception groups for the mental and psychomotor developmental outcomes. Moreover, an equal number of PGD/PGS, ICSI and NC children obtained scores within the mildly delayed, the normal and the accelerated performance category of the BSID-II-NL. CONCLUSIONS: Children conceived after PGD/PGS show similar mental and psychomotor developmental outcomes at age 2 to children conceived after ICSI or naturally.