First‐trimester sonographic diagnosis of sirenomelia: A multicenter series of 12 cases and review of the literature

Abstract

Objective: To determine the key sonographic features for the diagnosis of sirenomelia in the first trimester of pregnancy.Methods: Cases of sirenomelia from several prenatal diagnosis centers were retrospectively identified and reviewed. The diagnosis was established through the detection of fused lower limbs. Additional sonographic findings were also noted.Results: A total of 12 cases were collected. The most striking sonographic finding was the detection of malformed lower limbs, which appeared to be fused and in an atypical position. Nuchal translucency thickness was mildly increased in three cases (25%). An abdominal cyst, representing the dilated blind-ending bowel, was noted in seven cases (58%). Color flow imaging detected a single umbilical artery in six cases (50%) and the associated intra-abdominal vascular anomalies in three cases (25%).No cases of aneuploidy were detected. The pregnancy was terminated in nine cases (75%) and intrauterine demise occurred in the remaining three cases (25%). Conclusions:The sonographic detection of abnormal lower limbs or an intraabdominal cyst located laterally during the first-trimester scan may be warning signs of sirenomelia. This should prompt a detailed examination of the fetal lower body and intra-abdominal anatomy, including the main abdominal vessels, in order to look for additional confirmatory findings.

Sirenomelia with associated systemic anomalies – an autopsy report in a full term neonate

“…During the first-trimester scan, ultrasound detection of lower limb abnormalities or presence of an intra-abdominal cyst positioned laterally may be a warning indicator of sirenomelia. This should elicit a thorough inspection of the fetal lower body and intra-abdominal anatomy, including the main abdominal vessels, for further confirmation [18].…”

Case of sirenomelia in one infant from twins

“…Антенатальна ультрасонографія є методом вибору для діагностики цієї вади [13]. Найчастіше діагноз встановлюється протягом другого або третього триместру вагітності [10], як і в цьому клінічному випадку, хоча найбільш оптимальними термінами є перший триместр або ранні терміни другого триместру [3,11]. У третьому триместрі наявність маловоддя, внаслідок агенезії/гіпоплазії нирок, у 50% спостережень утруднює встановлення правильного діагнозу [12].…”