Screening
The asymptomatic population is not usually screened for Turner syndrome and it is recommended to investigate only when there are typical signs or characteristic features.[5]
Delayed or missed diagnosis of Turner can cause significant problems for individuals. If diagnosis is not made at infancy, it is often made years after growth failure has become evident, by which time often little or no growth potential remains. Early diagnosis allows for timely intervention of associated problems including hearing loss, cardiac abnormalities, strabismus and others; it may also offer the opportunity for fertility preservation using state of the assisted reproductive technology (ART).[5]
Antenatal screening
Routine ultrasonography in the first trimester may suggest features of Turner syndrome. Increased nuchal translucency is a common finding in Turner syndrome (but can also indicate an autosomal trisomy syndrome) and a cystic hygroma commonly indicates Turner syndrome.
Non-invasive prenatal testing (NIPT) is a screening test involving a maternal blood test which is performed earlier in the pregnancy and is increasingly utilised in practice. If concern for Turner syndrome is identified, confirmation by chorionic villus sampling or amniocentesis is necessary to make a diagnosis antenatally due to the poor predictive value of NIPT (21.4% for Turner syndrome).[8]
If Turner syndrome is suspected from antenatal testing, karyotyping should be carried out postnatally to confirm the diagnosis.[5]
Newborn screening
Turner syndrome is not routinely screened for in asymptomatic newborns.
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