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Thalassaemia screening in pregnancy
Tse N Leung1, Tze K Lau, Tony Kh Chung
1Academic Division of Obstetrics and Gynaecology, The University of Nottingham, The Medical School, Derby City General Hospital, Derby, UK. dannytnleung@cuhk.edu.hk
Current Opinion in Obstetrics & Gynecology
|March 11, 2005
Summary
Universal antenatal screening for thalassaemia carriers is recommended in high-prevalence areas. Mean cell haemoglobin or mean corpuscular volume are key screening measures for alpha and beta thalassaemias.
Area of Science:
- Medical Genetics
- Hematology
- Prenatal Diagnostics
Background:
- Thalassaemia disorders are inherited blood conditions requiring effective screening.
- Antenatal detection is crucial for managing and preventing severe forms of thalassaemia.
Purpose of the Study:
- To provide an updated review of antenatal screening and diagnostic methods for thalassaemia disorders.
- To discuss the latest advancements in prenatal diagnosis and molecular basis.
Main Methods:
- Review of current literature on antenatal screening programmes.
- Analysis of diagnostic techniques including molecular, laboratory, and ultrasound methods.
- Evaluation of non-invasive prenatal diagnostic approaches.
Main Results:
- Mean cell haemoglobin (<27 pg) or mean corpuscular volume (<80 fl) are effective screening tools for alpha and beta thalassaemias.
- Haemoglobin pattern and iron profile are recommended for further investigation if red cell indices are low.
- Ultrasound cardiothoracic ratio shows promise for screening alpha thalassaemia major.
Conclusions:
- Universal antenatal screening for thalassaemia carriers should be implemented in high-prevalence populations.
- Invasive prenatal diagnosis remains the gold standard for high-risk couples.
- Non-invasive prenatal diagnosis using maternal plasma is a potential future option.