Observed total and live birth prevalence of Wolf–Hirschhorn syndrome in England 2015–2020

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BACKGROUND: Birth prevalence estimates for Wolf - Hirschhorn syndrome (WHS) are frequently quoted as either one in 50 000 or one in 20 000 to one in 50 000. OBJECTIVE: To estimate the total birth and live birth prevalences of WHS in England between 2015 and 2020, and compare the results with previously published reports and data for common trisomies. METHODS: Data on total births and live births were obtained from the English National Congenital Anomaly and Rare Disease Registration Service. Total births were live births plus stillbirths, miscarriages after 20 weeks, and termination of pregnancy. RESULTS: There were 56 total births, resulting in 30 live births. Total birth prevalence was 2.16 per 100 000 [95% confidence interval (CI): 1.63-2.80 per 100 000], equivalent to one in 46 303 (95% CI: one in 35 656-one in 61 297). The live birth prevalence was 1.16 per 100 000 (95% CI: 0.78-1.66 per 100 000), equivalent to one in 86 092 (95% CI: one in 60 307-one in 127 601), consistent with an earlier UK study. CONCLUSION: We believe the frequently quoted WHS birth prevalence figures are an overestimate and recommend that birth prevalence figures are based on empirical data, with the nature of the numerator and denominator stated clearly.

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