As the use of genomic sequencing (GS) in the prenatal setting becomes more widespread,
laboratories and clinicians will be tasked with making decisions about whether to offer …

Genetics of Childhood Hearing Loss - Otolaryngologic Clinics of North America Skip to Main
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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 …

Purpose Genomic newborn screening raises practical and ethical issues. Evidence is
required to build a framework to introduce this technology safely and effectively. We …

Introduction Newborn bloodspot screening (NBS) is a highly successful public health
programme that uses biochemical and other assays to screen for severe but treatable …

Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are
one of the most common causes of deaths. In fetuses, the congenital heart defects are found …

Hearing loss affects 1–3 in every 1000 children. 1, 2 It incurs significant morbidity and
medical costs, and impacts adversely on educational attainment and employment …

Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on
investigation and clinical management of childhood hearing loss Childhood Hearing …

Internationally, the practice of offering additional findings (AFs) when undertaking a clinically
indicated genomic test differs. In the USA, the recommendation is to include analysis for AFs …

Decisions about genetic testing have traditionally been based on clinical utility and cost, but
personal utility is increasingly recognized when assessing the value of testing. Whole …