Clinica chimica acta; international journal of clinical chemistry · 2026
Gene-based screening using GAP-PCR and MALDI-TOF MS versus haemogram-based screening for thalassaemia in early pregnancy in Vietnam.
СтатьяСравнительное исследованиеНазвание и аннотация: Перевод в очереди
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Mai Trong Hung, Lam Tuan Thanh, Nguyen Tai Duc, Dinh Thuy Linh, Nguyen Hoai Nghia, Nguyen Thi Thanh Ha, Nguyen Thi Thuy, Trinh Thuy Duong, Pham The Vuong, Nghiem Xuan Huynh, Vu Van De, Phung Thi Huong, Nguy Thi Van, Ta Thi Kim Hue, Tang Hung Sang, Nguyen Canh Chuong
Аннотация
BACKGROUND: Thalassaemia is a common inherited disorder in Southeast Asia, including Vietnam. Conventional haemogram-based screening is widely used in routine prenatal care but has limited specificity and may be confounded by other conditions. This study compared gene-based screening using gap polymerase chain reaction (GAP-PCR) and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) with haematologic indices for thalassaemia carrier detection in early pregnancy.
METHODS: A prospective diagnostic accuracy study was conducted amongst 572 first-trimester pregnant women at Hanoi Obstetrics and Gynecology Hospital. All participants underwent both haemogram-based screening (defined as positive when mean corpuscular volume (MCV) <80 fL or mean corpuscular haemoglobin (MCH) <28 pg) and gene-based screening for 24 common α- and β-thalassaemia mutations using GAP-PCR combined with MALDI-TOF MS. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were compared.
RESULTS: Gene testing identified 101 carriers (17.7%): 64 α-thalassaemia (11.2%), 34 β-thalassaemia (5.9%), and 3 combined (0.5%). The predominant mutations were -SEA deletion (46.3% of α-thalassaemia) and HbE variant (48.6% of β-thalassaemia). Haematologic screening flagged 203 suspected cases (35.5%). Sensitivity was 100% for β-thalassaemia and 90.6% for α-thalassaemia, with a specificity of 77.1% for both. Six genetic carriers (all α-thalassaemia) had normal haematologic indices. PPVs were low (≤25.1%), while NPVs exceeded 98.9%.
CONCLUSION: Gene-based screening enhances diagnostic accuracy and identifies silent carriers missed by haemogram-based methods. These findings suggest a potential role in antenatal screening in high-prevalence settings, although cost-effectiveness and feasibility require further evaluation.
METHODS: A prospective diagnostic accuracy study was conducted amongst 572 first-trimester pregnant women at Hanoi Obstetrics and Gynecology Hospital. All participants underwent both haemogram-based screening (defined as positive when mean corpuscular volume (MCV) <80 fL or mean corpuscular haemoglobin (MCH) <28 pg) and gene-based screening for 24 common α- and β-thalassaemia mutations using GAP-PCR combined with MALDI-TOF MS. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were compared.
RESULTS: Gene testing identified 101 carriers (17.7%): 64 α-thalassaemia (11.2%), 34 β-thalassaemia (5.9%), and 3 combined (0.5%). The predominant mutations were -SEA deletion (46.3% of α-thalassaemia) and HbE variant (48.6% of β-thalassaemia). Haematologic screening flagged 203 suspected cases (35.5%). Sensitivity was 100% for β-thalassaemia and 90.6% for α-thalassaemia, with a specificity of 77.1% for both. Six genetic carriers (all α-thalassaemia) had normal haematologic indices. PPVs were low (≤25.1%), while NPVs exceeded 98.9%.
CONCLUSION: Gene-based screening enhances diagnostic accuracy and identifies silent carriers missed by haemogram-based methods. These findings suggest a potential role in antenatal screening in high-prevalence settings, although cost-effectiveness and feasibility require further evaluation.