Is COVID-19 infection during pregnancy a risk for congenital hearing loss?

Objective: Infections during pregnancy can increase the risk of congenital hearing loss. This population-based study investigated the effect of birthing parent COVID-19 infection during pregnancy on risk of congenital hearing loss in infants.

Methods: Records of infants born in 2022 were reviewed via a retrospective clinical audit of a universal state-wide newborn hearing screening program in Victoria, Australia.

Hearing Screening for Congenital CytoMegaloVirus-Exploring Parents' Experiences of Completing Targeted Congenital Cytomegalovirus Screening at the Time of Their Infants' Newborn Hearing Screening.

Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disabilities, with prompt detection (<21 days of life) required to enable accurate diagnosis and anti-viral treatment where clinically appropriate. International guidelines recommend cCMV screening for infants who do not pass their Universal Newborn Hearing Screening (UNHS). This study aimed to explore parental experiences of targeted cCMV screening through the UNHS in Victoria, Australia between 2019 and 2020 (HearS-cCMV study).

Exploring Parent Support Needs during the Newborn Hearing Diagnosis Pathway.

Universal newborn hearing screening (UNHS) facilitates early detection of permanent congenital hearing loss in newborns. In recognition of specific needs among parents, support services have been established within some UNHS programs, including the Victorian Infant Hearing Screening Program (VIHSP). Despite this, there is limited research about how to best support parents in the context of well-established UNHS programs.

Feasibility and acceptability of targeted salivary cytomegalovirus screening through universal newborn hearing screening.

Aim: This study aimed to determine the feasibility and parental acceptability of screening for congenital cytomegalovirus (cCMV) through saliva polymerase chain reaction in infants who did not pass their newborn hearing screening. Additionally, the utility (i.e.

Measurement tools for gender identity, gender expression, and gender dysphoria in transgender and gender-diverse children and adolescents: a systematic review.

Increasing numbers of children and adolescents are being referred to gender services for gender-related concerns. Various instruments are used with these patients in clinical care, but their clinical validity, strengths, and limitations have not been systematically reviewed. In this systematic review, we searched MEDLINE, PubMed, and PsycINFO databases for available tools that assess gender identity, gender expression, or gender dysphoria in transgender and gender-diverse (TGD) children and adolescents.

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.

Background: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing.

Objective: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities.

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

Study Question: What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests performed on miscarriage, fetal and infant samples in a state with >73 000 annual births?

Summary Answer: The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826), with a significant decrease in the detection of major chromosome abnormalities with later developmental stage, from 50.9% to 21.

Youths with a non-binary gender identity: a review of their sociodemographic and clinical profile.

Many of the considerable number of young people who identify as transgender or gender diverse do not conform to traditional binary notions of gender (male vs female), and instead have a non-binary gender identity. This narrative Review summarises literature related to the sociodemographic and clinical profiles of young people with a non-binary gender identity. Young people identifying as non-binary form a substantial minority of the general population.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Congenital hearing impairment (HI) is the most common sensory impairment and can be isolated or part of a syndrome. Diagnosis through newborn hearing screening and management through early intervention, hearing aids and cochlear implantation is well established in the Australian setting; however understanding the genetic basis of congenital HI has been missing. This population-derived cohort comprised infants with moderate-profound bilateral HI born in the 2016-2017 calendar years, detected through newborn hearing screening.

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016.

Objectives: To explore the association between timing of diagnosis of common autosomal trisomies, maternal age, and socio-economic status (SES).

Design: Retrospective study of cytogenetic diagnoses of trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) in Victoria, Australia, in 2015 to 2016, stratified by timing (prenatal less than 17 weeks gestation, prenatal including or greater than or 17 weeks gestation, and postnatal before 12 months of age), maternal age, and SES region. Utilisation of prenatal testing following a live-born T21 infant was ascertained via record linkage.

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

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.

Mild-moderate congenital hearing loss: secular trends in outcomes across four systems of detection.

Background: Universal newborn hearing screening (UNHS) targets moderate or greater hearing loss. However, UNHS also frequently detects children with mild loss that results in many receiving early treatment. The benefits of this approach are not yet established.

Population Outcomes of Three Approaches to Detection of Congenital Hearing Loss.

Background: Universal newborn hearing screening was implemented worldwide largely on modeled, not measured, long-term benefits. Comparative quantification of population benefits would justify its high cost.

Methods: Natural experiment comparing 3 population approaches to detecting bilateral congenital hearing loss (>25 dB, better ear) in Australian states with similar demographics and services: (1) universal newborn hearing screening, New South Wales 2003-2005, n = 69; (2) Risk factor screening (neonatal intensive care screening + universal risk factor referral), Victoria 2003-2005, n = 65; and (3) largely opportunistic detection, Victoria 1991-1993, n = 86.

The cost-effectiveness of universal newborn screening for bilateral permanent congenital hearing impairment: systematic review.

Objective: Universal newborn hearing screening for bilateral permanent congenital hearing impairment is standard practice in many developed economies, but until there is clear evidence of cost-effectiveness, it remains a controversial use of limited health care resources. We conducted a formal systematic review of studies of newborn hearing screening that considered both costs and outcomes to produce a summary of the available evidence and to determine whether there was a need for further research.

Methods: A search was conducted of medical and nursing databases and gray literature websites by the use of multiple keywords.

Slight-mild sensorineural hearing loss in children: audiometric, clinical, and risk factor profiles.

Objectives: Slight or mild hearing loss has been posited as a factor affecting speech, language, learning, and academic outcomes, but the risk factors for slight-mild sensorineural hearing loss (SNHL) have not been ascertained. The two specific aims for this research were (1) to describe the audiometric and clinical characteristics of children identified with slight-mild bilateral SNHL and (2) to compare children with slight-mild SNHL with those with normal hearing (NH) with respect to potential risk factors for congenital or acquired for hearing loss.

Design: A cross-sectional cluster sample survey of 6581 children enrolled in years 1 and 5 of Australian elementary school was completed.

Children subjected to cardiac surgery for congenital heart disease. Part 2 - parental emotional experiences.

Parents experience considerable distress when their children are subjected to cardiac surgery. This study investigated their psychological and emotional experiences. As part of a prospective study reviewing the emotional and psychological outcomes of children aged 2-12 years subjected to cardiac surgery, that age group being chosen to allow for objective testing following infancy and before adolescence, their parents were assessed prior to and 12-50 months following the surgery.

Children subjected to cardiac surgery for congenital heart disease. Part 1 - emotional and psychological outcomes.

This study investigated the psychological and emotional functioning of children with congenital heart disease (CHD) subjected to surgery. Children aged 2-12 years with CHD who underwent cardiac surgery were enrolled. Information was collected prior to surgery and 12 months or later following surgery.

Slight/mild sensorineural hearing loss in children.

Objective: The goal was to determine the prevalence and effects of slight/mild bilateral sensorineural hearing loss among children in elementary school.

Methods: A cross-sectional, cluster-sample survey of 6581 children (response: 85%; grade 1: n = 3367; grade 5: n = 3214) in 89 schools in Melbourne, Australia, was performed. Slight/mild bilateral sensorineural hearing loss was defined as a low-frequency pure-tone average across 0.

Enhancing the ethical conduct of genetic research: investigating views of parents on including their healthy children in a study on mild hearing loss.

Clinical genetic research is often regarded as more ethically problematic than other forms of research, and in some countries is subject to specific regulation, requiring researchers to follow specialised guidelines. In this paper, an approach to enhancing the ethical conduct of genetic research is proposed, which is believed to be more effective than simply attempting to follow general guidelines. The potential concerns, likely areas of misunderstanding and negative reactions of the participant group are systematically investigated before starting a study on genetics.