Haemoglobinopathies represent the most common single gene disorder worldwide; however, significant centre to centre variations in antenatal screening practices exist.
To assess performance of a selective antenatal haemoglobinopathy screening policy within a presumed low‐prevalence Australian population. Primary outcome was the failure to screen rate for women with at least one identifiable risk factor. Secondary outcomes included outcomes of maternal screening and rates, gestations and outcomes of paternal, prenatal and neonatal testing.
Materials and methods
A two‐year retrospective cohort study identifying all women attending for public antenatal care with at least one identifiable risk factor for haemoglobinopathy.
At least one risk factor for haemoglobinopathy was identified in 8.8% of the entire pregnant cohort; however, the failure to screen rate was high at 83.7% overall. Screening was significantly more likely to be undertaken in multiparous women, those with multiple risk factors and women originating from the Middle East. Twenty percent of screened women returned an abnormal result; however, this led to paternal haemoglobinopathy screening in only 66.6%. Where completed, the addition of partner screening reclassified offspring to low‐risk status in 85.7% of cases.
This study demonstrates an 83.7% screen failure rate within a selective screening model raising concerns regarding the clinical utility and health equity of this approach. This major drawback of selective screening suggests that institution of a universal antenatal screening system for haemoglobinopathies, even in anticipated low‐prevalence areas, will improve detection rates and ensure families receive appropriate and timely counselling.