Amniotic band syndrome: a population-based study in two Australian states

A search for cases of amniotic band syndrome was made in two population-based Australian birth defects registries, using defined selection criteria. Over a period of 4 years in Western Australia and 5 years in South Australia, 25 cases of amniotic band syndrome had been identified as such by the two registries, and an additional 15 new cases were identified by the study selection process, giving an annual prevalence of amniotic band syndrome over the study period of 2.03 per 10,000 births. Similar proportions of male and female infants were affected, although the syndrome was more common in mothers younger than 25 years of age, and in first births. Limb defects only (upper and/or lower) were found in 24 cases, limb-body-wall defects in four cases, and complex craniofacial and other malformations in 12 cases. A heightened awareness of the syndrome should enhance the identification of amniotic band syndrome, which has implications for genetic counselling, and our understanding of the aetiology and pathogenesis of this condition.