Early Screening for Antenatal Congenital Fetal Limb Anomalies and Implications in the Pediatric Surgery

Introduction: Congenital limb anomalies may be isolated, or may be associated with genetic syndromes. Literature shows that over 90% of them can be detected in the first trimester. The treatment of congenital limb anomalies is still a therapeutic challenge requiring multidisciplinary management to improve function and quality of life. Aim: The aim of the study was to determine the accuracy of the antenatal ultrasound in the detection of fetal limb anomalies in the first trimester of pregnancy for a better counselling and an earlier surgical correction. Methods: The study enrolled patients referred consecutively to the Antenatal Diagnosis Unit with gestational age between 11 weeks + 0d and 13W + 6d, over a 6 years period. In all cases an extensive protocol of morphological evaluation was applied. We correlated the first trimester findings with the second trimester examination, histopathological examination, postnatal clinical examination and surgical correction. Results: The average gestational age at diagnosis was 12w+4d. Of the study group, 34 fetuses had limb anomalies.9 fetuses had major limb anomalies. In these cases, the diagnosis was suspected / stated in the first trimester of pregnancy (detection rate 100%). They highest incidence had the congenital club foot and skeletal dysplasia. Isolated anomalies were rare (7 cases). Most cases associated other structural anomalies (18 cases), increased nuchal translucency and chromosomal anomalies. In one case, it has been demonstrated the dynamics of the musculoskeletal structures (fetal akinesia deformation sequence FADS) between two successive examinations: 12 weeks and 22 weeks. Early surgical correction was possible for all 7 cases suspected with minor isolated limb anomalies. Conclusions: An early antenatal diagnosis of fetal limb anomalies can change the counselling of the couple, the outcome of the pregnancy and improve the surgical management. However, prospective studies on samples with adequate statistical significance are needed.