Metacarpal Bone Plane Examination by Ultrasonography for the Diagnosis of Fetal Forearm and Hand Deformity

We explored the value of the metacarpal bone plane in screening for serious fetal forearm and hand deformities, excluding simple polydactyly and dactylion deformity, by ultrasonographic examination. Observed the second to fifth metacarpal bone plane of fetuses in 20,139 pregnant women at a gestational age of 16 to 30 weeks in The International Peace Maternity & Child Health Hospital of China Welfare Institute (IPMCH). There was a total 138 cases of fetal forearm and/or hand deformity among the 20,139 pregnant women. Of these, 134 cases were diagnosed, 4 cases were not diagnosed, and 1 case was misdiagnosed. Among the 134 diagnosed cases, there were 19 cases of hand absence, 5 cases of cleft hand, 13 cases of ectrodactyly, 26 cases of radius absence, 9 cases of forearm and hand dysplasia, 55 cases of thanatophoric dysplasia, 6 cases of wrist joint dysplasia, and 1 case of forearm amputation deformity. The deformity rate was 0.76%, the diagnostic coincidence rate was 99.97%, the sensitivity was 97.10%, the specificity was 99.99%, and the false negative rate was 2.9%. As such, careful observation of the metacarpal bone plane can be used increase the diagnosis rate of fetal forearm and hand deformity.