[Prevalence of congenital split hand/split foot malformation in Chinese population]

Abstract

Objective: To study the epidemiological and clinical features of congenital split hand/split foot malformation (SHFM) in Chinese population.

Methods: Data used in this study were provided by the Chinese Birth Defects Monitoring Network. The SHFM cases were categorized into two groups: isolated (SHFM only and SHFM with other limb defects) and syndromic (SHFM with non-limb defects). Prevalence rates were calculated by residential area (urban versus rural) and by gender. Further analyses were conducted to identify the characteristics of SHFM with related to gestational age, birth weight, perinatal outcome and affected limbs.

Results: A total of 736 newborn babies were identified with SHFM among 4,489,692 births, with a prevalence of 1.64/10,000. The prevalence of isolated SHFM and syndromic SHFM were 0.64 and 1.00 per 10,000 births, respectively. The prevalence of SHFM in male and female babies were 1.79 and 1.25 per 10,000 births, respectively. The prevalence of SHFM in urban and rural areas were 1.51 and 1.86 per 10,000 births, respectively. Preterm birth and low birth weight accounted for 30.20% and 43.93% of the SHFM cases, respectively. The perinatal mortality for the SHFM, isolated SHFM, and syndromic SHFM were 50.27%, 24.74%, and 66.59%, respectively. SHFM occurred more often in upper limbs.

Conclusion: The prevalence of SHFM in Chinese population is greater than foreign populations. The high perinatal mortality rate of SHFM is associated with the severity of accompanied malformations.