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Antenatal haemoglobinopathy screening: Patterns within a large obstetric service. Working towards a standard of care
Orly Lavee1, Giselle Kidson-Gerber2
1South Eastern Area Laboratory Services, Department of Haematology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Insights
Antenatal screening for haemoglobinopathies in Australia shows diverse referral patterns. Standardized guidelines are needed to improve care for an increasingly diverse population, especially for beta-thalassemia trait detection.
Area of Science:
- Medical Science
- Genetics
- Public Health
Background:
- Antenatal screening for haemoglobinopathies is crucial for predicting significant conditions.
- Australian practices are evolving due to a more diverse population.
- This study examines antenatal screening in a major Australian laboratory and antenatal service.
Purpose of the Study:
- To describe current antenatal screening practices for haemoglobinopathies in Australia.
- To identify areas for improvement in screening protocols.
- To inform the development of standardized guidelines.
Main Methods:
- Retrospective data collection on 462 antenatal haemoglobin electrophoresis cases over 16 months.
- Correlation of screening data with obstetric data from a local database.
- Analysis of referral patterns, patient demographics, and screening results.
Main Results:
- The most common indication for testing was 'pregnancy', with 8% lacking clear indication.
- Gestational age and referrer contact details were often missing; partner screening was documented in only 5.4%.
- Beta-thalassemia trait was the most frequent abnormality; 82% had no detected abnormalities. Ethnicity data was sparse, with South East Asian and Middle Eastern patients being most common after Australasian.
Conclusions:
- Referral patterns reflect Australia's diverse population and evolving care practices.
- There is a clear need for detailed, standardized antenatal screening guidelines.
- A comprehensive screening algorithm is proposed for Australasian populations or similar demographics.
Background:
Antenatal screening can predict clinically significant haemoglobinopathies, however in Australia, practices are not standardised and are evolving as the population becomes more ethnically diverse. This study describes antenatal screening practices in a large Australian laboratory/antenatal service.
Methods:
Data were collected retrospectively on consecutive antenatal haemoglobin electrophoresis over 16 months and correlated with obstetric data, obtained from the local obstetric database.
Results:
462 patients were included, with an average gestation of 25.8 weeks. 'Pregnancy' was the most common stated indication, with absent indication/clinical information in 8%. Gestational age was documented in 54%. In 15%, no contact details of the referrer were documented and partner screening was traceable in only 25 cases (5.4%). In 82% of cases, no abnormalities were detected. Beta thalassemia trait was the most common positive result. Only 52% of patients had recent iron studies. The mean haemoglobin was 111.6 g/L and mean cell volume was 80.5 fl at the time of testing. Ethnicity was documented on the request form in 3%. After Australasia, the most common ethnicity of patients was South East Asia and the Middle East.
Conclusion:
Referral patterns in our health service are diverse and reflect our changing population and care practices. Detailed guidelines are required and we propose a comprehensive algorithm for general use where selective screening is practiced within an Australasian population or one with similar demographics.
