Referral of patients for pre-implantation genetic diagnosis: A survey of obstetricians.

BACKGROUND: Pre-implantation genetic diagnosis (PGD) is a molecular diagnostic technique in which embryos are tested for specific genetic abnormalities to enable the selection of those unaffected by the condition. Previous Australian evidence suggested that women who are not informed about PGD by their obstetrician feel disempowered about not being given this option. AIMS: This study aimed to explore obstetrician knowledge regarding PGD and identify barriers to referral. MATERIALS AND METHODS: An invitation to the study with a link to an online questionnaire was e-mailed by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists to their members. RESULTS: In total, 372 practising obstetricians responded. Perceptions of their patients' financial status and ability to access PGD were identified as barriers to referral. There was variability in referral for PGD and/or genetic services according to the clinical scenario and in the perceived appropriateness of PGD for different indications. Obstetricians who had undergone professional development related to PGD were more likely to discuss PGD than those who had not (χ2 = 6.44; P < 0.01). CONCLUSIONS: The results highlight the need for additional training, development of educational resources and awareness of appropriate referral pathways to ensure that those couples who are eligible for PGD are informed.

Sex chromosome aneuploidy screening in a general population.

Cell-free fetal DNA testing is being used in parallel or in contingency screening as part of the first trimester screen. The test has high sensitivity and specificity for the trisomies 21, 18 and 13. The test also offers the option of assessing sex chromosome aneuploidies (SCA) which are recognised to be the next most common group of aneuploidies in the live birth population. Companies that offer the sex chromosome assessment report an accuracy rate of above 99% and a significant number of high-risk results have been detected in a multi-site Australian ultrasound practice. A high proportion of these women underwent prenatal testing to further assess the sex chromosomes. This study reports the results of these invasive investigations and results show that many of the high-risk SCA results appear to be false positives. This study reports the clinical experience of cell-free fetal DNA (cfDNA) testing with regard to sex chromosome aneuploidies in singleton pregnancies for a multi-site Sydney specialist O&G Ultrasound practice.

Perceptions of melanoma risk among Australian adolescents: barriers to sun protection and recommendations for improvement.

OBJECTIVES: To explore adolescents' perceptions of melanoma risk, sun protection intervention preferences and perceived barriers to sun protection recommendations. METHODS: Semi-structured focus groups were held in school classes, stratified by location (coastal, inland) and sector (public, private); discussions were transcribed verbatim and data were analysed using NVivo8 software. RESULTS: 100 students (mean age=14.4 years, SD=0.5; range=14-16 years) from six high schools participated. Students demonstrated a high level of sun protection knowledge and understanding of sun exposure as a primary risk factor for the development of melanoma. There was, however, an under-estimation of melanoma prevalence and mortality rates among youth, and poor understanding of the increased risk associated with sunburn during childhood/adolescence. Adolescents' preferences for intervention focused on first-person accounts of receiving a melanoma diagnosis, communicated by young melanoma survivors. Interventions modelled on youth marketing campaigns or utilising social media were rated poorly. CONCLUSIONS: Despite young Australians' adequate knowledge of melanoma and related health recommendations, poor adherence continues to place young people at risk. Study findings suggest that social media interventions developed to influence behaviour change, are not necessarily preferred by adolescents.

Cluster randomized controlled trial of a psycho-educational intervention for people with a family history of depression for use in general practice.

BACKGROUND: The strongest risk factor for depression is having a family history of the condition. Many individuals with a family history of depression are concerned about their personal risk for depression and report unmet educational and psychological support needs. No supportive and/or educational interventions are currently available that target this group of individuals. In this study we will develop and evaluate the first online psycho-educational intervention targeted to individuals with a family history of depression. Genetic risk information and evidence-rated information on preventive strategies for depression will be provided to such individuals in a general practice setting. The intervention will also incorporate a risk assessment tool. The content and delivery of the intervention will be pilot-tested. METHODS/DESIGN: The proposed intervention will be evaluated in the general practitioner (GPs) setting, using a cluster randomized controlled trial. GP practices will be randomized to provide either access to the online, targeted psycho-educational intervention or brief generic information about depression (control) to eligible patients. Eligibility criteria include having at least one first-degree relative with either major depressive disorder (MDD) or bipolar disorder (BD). The primary outcome measure is 'intention to adopt, or actual adoption of, risk-reducing strategies'. Secondary outcome measures include: depression symptoms, perceived stigma of depression, knowledge of risk factors for development of depression and risk-reducing strategies, and perceived risk of developing depression or having a recurrence of family history. Over the course of the study, participants will complete online questionnaires at three time points: at baseline, and two weeks and six months after receiving the intervention or control condition. DISCUSSION: This novel psycho-educational intervention will provide individuals with a family history of depression with information on evidence-based strategies for the prevention of depression, thus, we hypothesize, enabling them to make appropriate lifestyle choices and implement behaviors designed to reduce their risk for depression. The online psycho-educational intervention will also provide a model for similar interventions aimed at individuals at increased familial risk for other psychiatric disorders. TRIAL REGISTRATION: The study is registered with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12613000402741).

Infant neurodevelopment following in utero exposure to antidepressant medication.

AIM: To examine the impact of pregnancy exposure to antidepressants on infant neurodevelopment. METHODS: A prospective, longitudinal study in which antidepressant-exposed (n = 35) and nonexposed (n = 23) infants were administered the Bayley Scales of Infant Development (BSID-III) at 18 months, which measures neurodevelopment across five domains. Data on obstetric and perinatal complications, maternal IQ, presence of mood disorder in pregnancy and up to and including 18 months, and psychosocial status were also collected. RESULTS: Almost 90% of infants were exposed throughout the second and third trimesters to therapeutic antidepressant doses. Bivariate analysis showed no difference between exposed and unexposed infants in any of the neurodevelopmental outcomes. Maternal depression around birth or up to time of developmental testing was not associated with neurodevelopmental outcomes. CONCLUSION: Our results suggest that pregnancy antidepressant exposure (mostly serotonin reuptake inhibitors) is not associated with poorer cognitive, motor or language development outcomes in infants at 18 months. This information supports earlier studies and adds into the available data used by clinicians and mothers making key decisions around the use of antidepressants in pregnancy. However, given the small sample size, and some degree of heterogeneity in terms of antidepressant exposure, these results need to be treated with caution.

Psychosocial factors and uptake of risk-reducing salpingo-oophorectomy in women at high risk for ovarian cancer.

Bilateral risk-reducing salpingo-oophorectomy (RRSO) has been shown to significantly reduce the risk of ovarian cancer. This study assessed factors predicting uptake of RRSO. Women participating in a large multiple-case breast cancer family cohort study who were at increased risk for ovarian and fallopian tube cancer (i.e. BRCA1 or BRCA2 mutation carrier or family history including at least one first- or second-degree relative with ovarian or fallopian tube cancer), with no personal history of cancer and with at least one ovary in situ at cohort enrolment, were eligible for this study. Women who knew they did not carry the BRCA1 or BRCA2 mutation segregating in their family (true negatives) were excluded. Sociodemographic, biological and psychosocial factors, including cancer-specific anxiety, perceived ovarian cancer risk, optimism and social support, were assessed using self-administered questionnaires and interviews at cohort enrolment. RRSO uptake was self-reported every three years during systematic follow-up. Of 2,859 women, 571 were eligible. Mean age was 43.3 years; 62 women (10.9 %) had RRSO a median of two years after cohort entry. Factors predicting RRSO were: being parous (OR 3.3, p = 0.015); knowing one's mutation positive status (OR 2.9, p < 0.001) and having a mother and/or sister who died from ovarian cancer (OR 2.5, p = 0.013). Psychological variables measured at cohort entry were not associated with RRSO. These results suggest that women at high risk for ovarian cancer make decisions about RRSO based on risk and individual socio-demographic characteristics, rather than in response to psychological factors such as anxiety.

Antenatal psychosocial assessment: how accurate are we in determining 'low-risk' status? A pilot study.

Routine Comprehensive Psychosocial Assessment was implemented antenatally at a public hospital in Sydney in 2000. The assessment, completed on all women, classifies them as (1) currently, or at high-risk of becoming, distressed, or, (2) not currently, or at low risk of becoming, distressed during the perinatal period. This pilot study followed up a sample of women (N = 50) from the latter group at 6 weeks postpartum to explore the accuracy of 'low risk' identification. All but one woman reported that they continued to do well during their pregnancy. By 6 weeks postpartum only one woman scored high on the validated depression measure though data from a semi-structured interview indicated that a further four women experienced sub-clinical difficulty in the early weeks postpartum. The antenatal classification of women as 'low risk' using this assessment method appears to be substantially accurate, though this finding needs to be replicated in a larger study.

National program for depression associated with childbirth: the Australian experience.

Routine screening was introduced as a joint research/public-health initiative across 43 health services in Australia, funded by beyondblue, the National Australian Depression Initiative. This program included assessing risk factors and prevalence of depression in perinatal women. Other objectives included increasing awareness of the condition, training of relevant staff, and assessing the feasibility of a screening program. Women were screened antenatally and postnatally with a demographic questionnaire and the Edinburgh Postnatal Depression Scale. A subgroup of women and health professionals was surveyed. Over 40,000 women participated directly in the program. Data and issues for specific groups are presented. There was a high level of acceptability to women and health professionals involved. Screening is acceptable and feasible as part of the mental-health management of perinatal women. It needs to be supplemented with information for women and education and support for staff.