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January 1, 1985Prenatal Diagnosis

Evaluation of a prenatal screening procedure for β‐thalassaemia carriers in a chinese populationbased on the mean corpuscular volume (MCV)

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Authors

AGAnupam GhoshIndian Institute of Technology KharagpurJWJ. S. K. WooUniversities UKCWC. W. WanOrigin Quantum Computing Technology Company (China)

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Implication

Observational screening evaluation reveals mean corpuscular volume below 75 fl detects all beta-thalassaemia carriers in pregnant women, indicating an efficient two-step testing protocol.

Key Points

  • To assess the diagnostic utility and accuracy of mean corpuscular volume (MCV) as a primary prenatal screening method for β-thalassaemia carriers.
  • Measured haemoglobin, MCV, plasma ferritin, and HbA2 levels in 25 known β-thalassaemia carriers and an initial cohort of 299 consecutive pregnant women at less than 24 weeks of gestation.
  • Assessed and validated the performance of the derived MCV cut-off threshold in a subsequent screening population of 1,166 pregnant patients.
  • In the initial cohort, 18 of 299 women (6%) were diagnosed as carriers (HbA2 > 4.5%), with 100% presenting an MCV < 75 fl; adopting this threshold required reflex HbA2 testing in 11% of the screened population.
  • Lowering the MCV cut-off to 70 fl reduced reflex testing requirements to 8% (a 27% reduction) but decreased the carrier detection rate to 83%, while one third of carriers maintained normal haemoglobin levels (> 11 g/dl).
  • Screening of the validation cohort identified 61 carriers (6%) among 1,166 patients, all of whom presented an MCV < 75 fl, confirming 100% sensitivity for the two-step protocol.

Cite This Study

Ghosh et al. (1985) studied this question.

synapsesocial.com/papers/6a96ac2e2d8f86faeeb2f2abhttps://doi.org/10.1002/pd.1970050111
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