Antenatal haemaglobinopathy screening in Australia remain diverse with no national policy. Despite increasing ethnic diversity, there remains a paucity of data regarding current antenatal haemaglobinopathy screening practices.
A retrospective audit between 1stJan 2014 and 31stDecember 2016 identified all antenatal haemaglobin electrophoresis (HbEPG) within a tertiary obstetric service in a regional Australian setting. Data regarding patient demographics, red cell indices and indication for testing was obtained from notes review. HbEPG results were identified from the hospital pathology service and where relevant, partner testing and specialist input were also evaluated.
42 requests for HbEPG were identified in women with a documented pregnancy during the study period, representing testing in 0.3% of pregnancies. Testing frequently occurred during second and third trimesters (48.8% and 41.9% respectively) with mean gestation of 20 weeks at booking visit. Testing occurred on the basis of ethnicity in only 7 cases (16.3%) despite 1407 (11%) of the antenatal cohort originating from high prevalence areas. Other indications included abnormal red cell indices in 48.8%, known family history in 14.0% and during evaluation of fetal hydrops in 11.6%. 12 women had abnormal results (27.9%) representing alpha-thalassaemia trait in 4 cases, beta-thalassaemia trait in 4 cases, compound heterozygosity in 2 cases and HbE heterozygote and sickle cell trait in 1 patient each. Of the abnormal results, partner testing was available in only 8 cases (66.6%) and results of screening altered pregnancy management in 50% of affected women.
This study demonstrates a very low rate of performance of antenatal haemaglobinopathy screening testing within a tertiary unit employing a selective screening strategy. Screening was usually performed late in pregnancy limiting its value in optimizing reproductive choice. These data indicate a need for further study to evaluate the reasons for this and better define performance and cost-effectiveness of selective screening within the Australian healthcare setting.