Search

Introduction The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant's hearing loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will be offered whole-exome sequencing (WES) with targeted analysis in conjunction with chromosome microarray to determine the genetic causes of congenital hearing loss. Parents will also be offered the opportunity to receive additional results from their infant's WES. Methods Eligible infants will be identified through the Victorian Infant Hearing Screening Program and offered an appointment in a paediatrician-run clinic, a genetics assessment and enrolment in the Victorian Childhood Hearing Impairment Longitudinal Databank. If parents consent to WES, genes causing deafness will be analysed and they can choose to obtain additional findings. For the additional results component, a modified laboratory protocol has been designed for reporting of results in the absence of a relevant phenotype. Parents' experience of being offered WES will be evaluated using surveys. Discussion This project will provide descriptive analysis of the genetic aetiology of congenital hearing loss in this cohort and May provide data on genotype-phenotype correlations. Additionally, choices regarding additional findings will be analysed. Participants will represent a diverse cross section of the population, increasing the ability to generalise results beyond the study group. Evaluation surveys will allow analysis of preferences around counselling, usefulness of a decision aid and adequacy of information provision.Copyright © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved.

Objective: To determine whether adverse perinatal outcomes are increased in subfertile women. Design(s): Cohort study. Setting(s): Two tertiary assisted reproductive technologies (ART) centers; Victorian births register. Patient(s): Records of women who registered with the clinics (1991-2000), but did not have an infant using ART, were linked to the birth register (1991-2004) to identify singleton non-ART births within 5 years of registration (N = 2171). Controls, matched by maternal age and year of infant's birth, were selected randomly from birth records (N = 4363). Intervention(s): None. Main Outcome Measure(s): Adverse obstetric and perinatal outcomes. Result(s): After adjusting for confounders, compared with controls, subfertile women had increased odds of hypertension or preeclampsia (adjusted odds ratio [OR] 1.29, 1.02-1.61), antepartum hemorrhage (adjusted OR 1.41, 1.05-1.89), perinatal death (adjusted OR 2.19, 1.10-4.36), low birth weight (adjusted OR 1.44, 1.11-1.85), preterm birth <37 weeks (adjusted OR 1.32, 1.05-1.67) or <31 weeks (adjusted OR 2.37, 1.35-4.13), and cesarean delivery (adjusted OR 1.56, 1.37-1.77). There was weak evidence for increased birth defects (adjusted OR 1.30, 0.98-1.72) and gestational diabetes (adjusted OR 1.25, 0.96-1.63). No increased risk was found for prelabor rupture of membranes, small for gestational age, or postpartum hemorrhage. Conclusion(s): Subfertile women with singleton births are at increased risk of several adverse outcomes. These risks should be considered during their antenatal care and when analyzing adverse effects of ART. Copyright © 2010 American Society for Reproductive Medicine, Published by Elsevier Inc.

Objectives: To describe the epidemiology of gestational diabetes mellitus (GDM) in Victoria. Study design: Population study of all women having singleton births in Victoria in 1996. Method(s): Probabilistic record linkage of routinely collected data and capture-recapture techniques to provide an estimate of the incidence of GDM. Main Outcome Measure(s): Risk factors for and the adverse outcomes associated with GDM compared with the non-diabetic population by univariate and multivariate analysis. Result(s): The estimated incidence of GDM was 3.6% (95% confidence interval [CI], 3.60%-3.64%). GDM is associated with women who are older, Aboriginal, non-Australian born, or who give birth in a larger hospital. The adverse outcomes associated with GDM pregnancies were hypertension/pre-eclampsia (adjusted odds ratio [OR], 1.6; 95% CI, 1.4-1.9), hyaline membrane disease (1.6; 1.2-2.2), neonatal jaundice (1.4; 1.2-1.7) and macrosomia (2.0; 1.8-2.3). Interventions during childbirth were also associated with GDM - for example, induction of labour (3.0; 2.7-3.4) and caesarean section (1.7; 1.6-1.9). Conclusion(s): Women with GDM had increased rates of hypertension, pre-eclampsia, induced labour, and interventional delivery. Their offspring had a higher risk of macrosomia, neonatal jaundice and hyaline membrane disease.