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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 intra-abdominal 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.

Assuntos

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First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Four fetuses had holoprosencephaly. In 6 cases, the parents opted for termination of pregnancy. The remaining case resulted in premature delivery at 26 weeks due to severe polyhydramnios and early neonatal death. This report highlights the important role of ultrasound in the identification of agnathia-otocephaly complex in the first trimester of pregnancy.

Assuntos

RESUMO

INTRODUCTION: Congenital splenic cysts are a rare cause of abdominal cystic masses in the fetus. We describe nine cases of this condition, the largest reported experience to date. A review of the literature for similar cases was also performed. METHODS: Cases of congenital splenic cyst were collected from three prenatal diagnostic centers and from a dedicated website of prenatal diagnosis. Information regarding clinical and sonographic findings was obtained by reviewing ultrasound reports and medical records. An electronic search of the Pubmed/MEDLINE database for similar cases, with subsequent manual cross-referencing, was performed and the relevant information from the articles was retrieved. RESULTS: A total of nine cases were added to the currently existing literature of 32 cases. In all but one of our cases, the prenatal detection of the splenic cyst was made in the third trimester, with a median gestational age at diagnosis of 30 weeks (range 22-37). The splenic cyst was confirmed after delivery in all but one case, which was lost to follow up. Postnatal sonographic examinations performed in the remaining eight cases showed that the cyst increased in size in two (25%), was stable in size in one (12%), decreased in size in one (12%), and completely regressed in the other four cases (50%). No complications associated with the cysts were reported in the infants. CONCLUSIONS: Congenital splenic cyst appears to be a benign condition with no known risk of perinatal complications. Nevertheless, differential diagnosis with other fetal cystic masses of the left upper abdominal quadrant and postnatal sonographic follow up to monitor the size of the cyst are important issues to be considered in the perinatal management of these cases.

Assuntos