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1.
Fetal Diagn Ther ; 48(3): 217-226, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33684914

RESUMEN

OBJECTIVES: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. METHODS: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. RESULTS: Prenatal imaging showed SCC in all cases (n = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (n = 14), septal dysmorphism (n = 14), parallel lateral ventricles (n = 12), and ventriculomegaly (n = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. CONCLUSIONS: SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.


Asunto(s)
Cuerpo Calloso , Ultrasonografía Prenatal , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Estudios Retrospectivos
2.
Prenat Diagn ; 39(1): 16-25, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30536936

RESUMEN

OBJECTIVE: To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus. METHODS: Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006-2017. Prenatal and postnatal signs including the specific "whirlpool sign" were computed. Postnatal volvulus was confirmed by pathology examination after surgery or neonatal autopsy. RESULTS: Thirteen cases of midgut volvulus were identified. Though not a specific sign, a decrease in active fetal movements was reported in eight patients (61.5%). The prenatal whirlpool sign was directly seen in 10 cases, while an indirect but suggestive sign, a fluid-filled level within the dilated loops, was present in five cases. No intestinal malrotation was observed. Pregnancy outcomes were two terminations of pregnancy, both associated with cystic fibrosis, one early neonatal death, three prenatal spontaneous regressions, and seven favorable outcomes after neonatal surgery with resection of midgut atresia. CONCLUSIONS: Identification of the whirlpool sign or of a fluid-filled level within the dilated loops improves the accuracy of ultrasound findings for suspected volvulus. In the absence of total volvulus (in cases of intestinal malrotation) or association with cystic fibrosis, the prognosis appears good.


Asunto(s)
Anomalías del Sistema Digestivo/diagnóstico por imagen , Anomalías del Sistema Digestivo/embriología , Vólvulo Intestinal/diagnóstico por imagen , Vólvulo Intestinal/embriología , Ultrasonografía Prenatal , Anomalías del Sistema Digestivo/cirugía , Femenino , Movimiento Fetal , Edad Gestacional , Humanos , Recién Nacido , Vólvulo Intestinal/cirugía , Muerte Perinatal , Embarazo , Resultado del Embarazo , Nacimiento Prematuro , Diagnóstico Prenatal , Pronóstico , Estudios Retrospectivos
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