Faculty Bibliography

OBJECTIVE:The objective of the study is to investigate the experiences of couples who underwent prenatal whole-exome sequencing (WES) for fetal anomalies and the amount/type of information couples want from prenatal WES. METHOD:Participants in the Fetal Sequencing Study who had genetic testing for fetal anomalies were invited for a semistructured interview about their experience with prenatal WES. A constructivist grounded theory approach with an inductive coding style was used for coding and analysis. RESULTS:We interviewed 29 participants from 17 pregnancies. Two pregnancies had positive prenatal WES results, and 4 were terminated prior to receipt of WES results. The main themes were anxiety and stress around the time of diagnosis, education and consent for WES, coping and support while waiting for results, and receiving genetic testing results. In response to hypothetical scenarios probing the desire for uncertain results, 86% would like to be told about results for which the provider had some degree of uncertainty, and the percent desiring results decreased as the certainty of the results decreased. CONCLUSION:Participants' experience with exome sequence was similar to other prenatal genetic diagnostic tests, except for the longer wait time for results. When probed with hypothetical scenarios, participants desired more results than were provided in the study, including uncertain results that might diagnose the fetal condition. This highlights the need for specialized prenatal genetic counseling to have nuanced discussions of multiple dimensions of uncertainty with implementation of prenatal WES.

BACKGROUND:Teratogenicity of heavy prenatal alcohol exposure is established, but uncertainty remains regarding the impact of moderate alcohol exposure on cognitive deficits in infants. Separating in utero effects from environmental confounding is a challenge for observational studies; consideration of alcohol use by partners as well as mothers may help clarify this. This study examined associations between prenatal alcohol use by both mothers and their partners and infant cognitive developmental outcomes at 12-months. METHODS:Pregnant women (n = 1331) and their partners (n = 699) were recruited from antenatal clinics of three metropolitan public hospitals in Australia, and completed detailed interviews about alcohol consumptions throughout pregnancy. Infants were assessed with the Bayley Scales of Infant Development - Third edition (Bayley) at 12-months of age. RESULTS:Alcohol use during pregnancy was reported by 65.7% of mothers and 84.1% of partners. Using multiple methods to adjust for confounding factors, no evidence for impaired cognitive ability associated with alcohol use by mothers or their partners was observed. Children born to women who drank low-levels of alcohol had slightly higher Bayley cognitive scores than those born to abstaining women. There was some evidence for an interaction between sociodemographic factors and prenatal alcohol exposure on infant cognitive outcomes. CONCLUSION:This finding corroborates existing evidence to suggest there are no detrimental effects to infant cognitive development at 12-months of age following low-level prenatal alcohol exposure. Future prospective studies involving families of a broad range of backgrounds would be informative to clarify interaction between alcohol exposure and environmental factors on developmental outcomes.

The aims of this study were to identify: (i) the proportion of women exceeding the caffeine intake guideline (>200 mg/day) during each trimester, accounting for point of pregnancy awareness; (ii) guideline adherence trajectories across pregnancy; (iii) maternal characteristics associated with trajectories; and (iv) association between adherence and growth restriction birth outcomes. Typical and maximal intake per consumption day for the first trimester (T1; pre- and post-pregnancy awareness), second (T2), and third trimester (T3) were recorded for a prospective cohort of pregnant Australian women with singleton births (n = 1232). Birth outcomes were birth weight, small for gestational age, and head circumference. For each period, participants were classified as abstinent, within (≤200 mg), or in excess (>200 mg). Latent class growth analyses identified guideline adherence trajectories; regression analyses identified associations between adherence in each trimester and birth outcomes. The percentage of participants who reported caffeine use declined between T1 pre- and post-pregnancy awareness (89% to 68%), and increased in T2 and T3 (79% and 80%). Trajectories were: 'low consumption' (22%): low probability of any use; 'within-guideline' (70%): high probability of guideline adherence; and 'decreasing heavy use' (8%): decreasing probability of excess use. The latter two groups were more likely to report alcohol and tobacco use, and less likely to report planning pregnancy and fertility problems. Exceeding the guideline T1 pre-pregnancy awareness was associated with lower birth weight after covariate control (b = -143.16, p = 0.011). Overall, high caffeine intake pre-pregnancy awareness occurs amongst a significant minority of women, and continued excess use post-pregnancy awareness is more common where pregnancy is unplanned. Excess caffeine consumption pre-pregnancy awareness may increase the risk for lower birth weight. Increasing awareness of the guideline in pregnancy and preconception health care may be warranted.

Dengue is the most common arboviral infection of humans, responsible for a substantial disease burden across the tropics. Traditional insecticide-based vector-control programmes have limited effectiveness, and the one licensed vaccine has a complex and imperfect efficacy profile. Strains of the bacterium Wolbachia, deliberately introduced into Aedes aegyptimosquitoes, have been shown to be able to spread to high frequencies in mosquito populations in release trials, and mosquitoes infected with these strains show markedly reduced vector competence. Thus, Wolbachia represents an exciting potential new form of biocontrol for arboviral diseases, including dengue. Here, we review how mathematical models give insight into the dynamics of the spread of Wolbachia, the potential impact of Wolbachia on dengue transmission, and we discuss the remaining challenges in evaluation and development.

INTRODUCTION AND AIMS:There is limited research regarding the effects of alcohol consumption by breastfeeding mothers on infant development. This study examined the frequency, correlates and outcomes of alcohol use during lactation. DESIGN AND METHODS:Data were from an Australian cohort study. Maternal demographics and substance use were assessed during pregnancy and at 8 weeks and 12 months postpartum. Breastfeeding duration, infant feeding, sleeping and development (Ages and Stages Questionnaire) were also assessed postpartum. Logistic regression and general linear model analyses examined characteristics of women who drank during breastfeeding, and the association between alcohol use during breastfeeding and infant outcomes. RESULTS:Alcohol use was reported by 60.7% and 69.6% of breastfeeding women at 8 weeks and 12 months postpartum, respectively. Breastfeeding women who consumed alcohol were more likely to be born in Australia or another English-speaking country, be tertiary educated and have higher household incomes. Most drank at low levels (≤14 standard drinks per week, <3 per occasion) and employed strategies (e.g. timing of alcohol use) to minimise alcohol passed onto infants via breastmilk. Alcohol consumption was unrelated to breastfeeding duration, infant feeding and sleeping behaviour at 8 weeks, and most infant developmental outcomes at 8 weeks or 12 months, after adjusting for confounders. The only significant association showed that infants whose mothers drank at 8 weeks postpartum had more favourable results for personal-social development at 12 months compared with those whose mothers abstained. DISCUSSION AND CONCLUSIONS:Low level drinking during breastfeeding is not linked with shorter breastfeeding duration or adverse outcomes in infants up to 12 months of age. [Wilson J, Tay RY, McCormack C, Allsop S, Najman J, Burns L, Olsson CA, Elliott E, Jacobs S, Mattick RP, Hutchinson D. Alcohol consumption by breastfeeding mothers: Frequency, correlates and infant outcomes. Drug Alcohol Rev 2017;00:000-000].

BACKGROUND:Current estimates of the rates of alcohol-exposed pregnancies may underestimate prenatal alcohol exposure if alcohol consumption in early trimester 1, prior to awareness of pregnancy, is not considered. Extant literature describes predictors of alcohol consumption during pregnancy; however, alcohol consumption prior to awareness of pregnancy is a distinct behavior from consumption after becoming aware of pregnancy and thus may be associated with different predictors. The purpose of this study was therefore to examine prevalence and predictors of alcohol consumption by women prior to awareness of their pregnancy, and trajectories of change to alcohol use following pregnancy recognition. METHODS:Pregnant women (n = 1,403) were prospectively recruited from general antenatal clinics of 4 public hospitals in Australian metropolitan areas between 2008 and 2013. Women completed detailed interviews about alcohol use before and after recognition of pregnancy. RESULTS:Most women (n = 850, 60.6%) drank alcohol between conception and pregnancy recognition. Binge and heavy drinking were more prevalent than low-level drinking. The proportion of women who drank alcohol reduced to 18.3% (n = 257) after recognition of pregnancy. Of women who drank alcohol, 70.5% ceased drinking, 18.3% reduced consumption, and 11.1% made no reduction following awareness of pregnancy. Socioeconomic status (SES) was the strongest predictor of alcohol use, with drinkers more likely to be of high rather than low SES compared with abstainers (OR = 3.30, p < 0.001). Factors associated with different trajectories (either cessation, reduction, or continuation of drinking) included level of alcohol use prior to pregnancy recognition, age, pregnancy planning, and illicit substance use. CONCLUSIONS:In this sample of relatively high SES women, most women ceased or reduced drinking once aware of their pregnancy. However, the rate of alcohol-exposed pregnancies was higher than previous estimates when the period prior to pregnancy recognition was taken into account.