Three‐Dimensional Sonography of Sirenomelia at 10 and 12 Weeks' Gestation

Cuillier, Fabrice; Mardamootoo, Davina; Lamarque, M. D.; Cerisier, Stéphanie; Bideaut, Jacques

doi:10.7863/ultra.32.9.1678

Cited by 8 publications

(10 citation statements)

References 11 publications

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“…This is because the information on the maternal characteristics and the prenatal sonographic features were incomplete and insufficient for generating valuable scientific information. The diagnosis was made before 11 weeks' gestation in four cases (17%), all of which were through transvaginal scanning . Among the 17 remaining cases, there was an increased nuchal translucency thickness in only three cases (17%) .…”

Section: Resultsmentioning

confidence: 99%

“…By following the pathway of the umbilical vessels from distal to proximal, the most striking vascular findings include a two‐vessel umbilical cord; the presence of one rather than the usual two perivesical arteries in the fetal pelvis; demonstration of a single, large, midline vessel arising from the abdominal aorta; and hypoplastic lower abdominal aorta with absent aortic bifurcation and renal arteries. 3D sonography has also been used by several authors to diagnose sirenomelia in the first trimester and is now considered a useful complementary diagnostic tool. As 3D sonography is a technique that is highly dependent on the amount of amniotic fluid surrounding the fetus, its application in the second and third trimesters of pregnancy is limited.…”

Section: Discussionmentioning

confidence: 99%

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

Sepúlveda¹,

Bornstein

Андреева

et al. 2020

Prenatal Diagnosis

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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 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.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Sepúlveda¹,

Bornstein

Андреева

et al. 2020

Prenatal Diagnosis

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“…4 The incidence of sirenomelia has been reported as a range of 1 in 60 000 live births 1 up to 1.5:100 000 to 4.2:100 000 births, 4 with a male predominance of almost three to one. 2,4 Multiple sources also state an estimated 100to 150-fold increase in the incidence of sirenomelia with monozygotic twinning versus a singleton pregnancy. 1,4,7 Diabetic mothers are at a 2% increased risk for carrying a fetus with sirenomelia.…”

Section: Discussionmentioning

confidence: 99%

Late Second Trimester Diagnosis of Sirenomelia

Harry

2016

Journal of Diagnostic Medical Sonography

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Sirenomelia is an uncommon complex congenital anomaly associated with fusion of the lower limbs and abnormalities of the urinary and gastrointestinal tract. Most cases of sirenomelia are not diagnosed in utero due to the complexity of the anomalies coupled with anhydramnios. With a male predominance of approximately 3:1, amniocentesis or noninvasive prenatal screening is the only way to confirm the chromosomes and gender of fetuses diagnosed with sirenomelia in utero. Few cases have been reported surviving past the neonatal period and a majority die in utero.

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“…Es posible su diagnóstico durante el examen ecográfico de rutina durante el primer trimestre y, mejor aún, si se realiza una ecografía estructural precoz entre la semana 11 a 14 de gestación debido a que en este periodo el feto está rodeado de suficiente cantidad de líquido amniótico que proviene casi en su totalidad de los amnioblastos de la membrana amniótica 7,15 . Sólo en el 45% de los casos publicados se hace el diagnóstico prenatal 7,15 . Conflictos de interés: los autores declaran no tener conflictos de interés en la publicación de este caso.…”

Section: Discussionunclassified