Birth Defects in Babies that Appear Perfectly Healthy
Each year over 7.9 Million babies are born with birth defects, most of which appear perfectly healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life.
Many countries run publicly funded programmes to screen newborns for inherited diseases.
Currently, all Australia-born babies are screened for five common conditions including congenital hypothyroidism, cystic fibrosis, amino acid disorders including phenylketonuria, organic acidemias and fatty acid oxidation defects. All states and territories except Victoria also screen for galactosaemia.
There are a growing number of conditions that could be considered for inclusion in newborn screening programmes and these include, among others, severe combined immunodeficiency and lysosomal storage disease (Newborn Screening in Australia: Position Statement May 2015, Royal Australasian College of Physicians).
This leaves thousands of newborns unscreened for any number of potentially manageable disorders and adverse drug reactions.
When is NOVA™ Genetic Test Suitable?
NOVA™ is suitable for newborns and children up to 5 years of age. NOVA™ Screens for 50 inherited disorders, which have a combined prevalence rate of 1/400 births. NOVA™ aims to achieve early detection, referral and treatment of all babies identified as high risk of these disorders.
Are you interested in this test? Why not view our NOVA™ Post Natal Peace brochure?
Note: Your only additional cost will be the blood collection fee that should be arranged with the sample collector during your pathology appointment.