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Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs.Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented.Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed.Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the prevalence and prenatal ultrasound detection of clubfoot in Tuscany during a period of 20 years.Methods: This is a descriptive analysis on data from the Tuscan register of congenital defects, covering a 20-year period from 1992 to 2011. The Tuscan registry of congenital defects is a population-based register for the epidemiologic surveillance of congenital anomalies. The study included all cases of pre- or postnatally diagnosed clubfoot (isolated clubfoot and cases associated with other congenital defects). Overall prevalence and pre-natal detection rates were calculated.Results: Among the 549,931 deliveries recorded in Tuscany between 1992 and 2011, 858 cases of clubfoot were registered, with a prevalence of 1.56/1000. Seventy-eight percent of cases were isolated. The detection rate was higher when the defect was associated with other anomalies compared to isolated forms. Over the study period, there was a substantial improvement in the prenatal detection of clubfoot (from 11 to 31% overall). For isolated forms, detection rate improved from 4 to 16%, and for cases associated with other congenital defects, it increased from 43 to 73%.Conclusion: Prevalence of clubfoot in Tuscany is 1.56 per 1000 births, in agreement with the incidence reported in epidemiological studies in Europe. Prenatal detection of clubfoot improved over time. The detection rate was higher in cases associated with other anomalies. [ABSTRACT FROM AUTHOR]