Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta-analysis.

OBJECTIVE: To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP). METHODS: A retrospective cohort study of cases of prenatally diagnosed ASP followed in two tertiary centers and a meta-analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow-up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non-SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated. RESULTS: Fifteen cases of isolated ASP, with median postnatal follow-up of 36 months (range, 12-60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8-20.7%); I2 = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5-29.0%); I2 = 63.9%) cases. Of all 78 neonates with available follow-up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6-33.2%); I2 = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1-24.0%); I2 = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow-up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5-18.6%); I2 = 40.1%). CONCLUSIONS: In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Outcome of non-visualization of fetal gallbladder on second-trimester ultrasound: cohort study and systematic review of literature.

OBJECTIVES: To investigate the ultrasound characteristics and outcome of fetuses with non-visualization of the fetal gallbladder (NVFGB) followed in our tertiary university hospital, and to provide a comprehensive review of the literature on prenatal findings and outcome of NVFGB. METHODS: NVFGB was defined as non-visualization of the gallbladder on two targeted ultrasound examinations performed within a 1-week period. First, we reviewed the medical records of NVFGB cases managed in our center over a 9-year period. Then, we performed a systematic review of the literature to identify studies on NVFGB. The incidence of chromosomal anomalies, later visualization of the gallbladder, gallbladder agenesis, cystic fibrosis and biliary atresia was assessed in fetuses with isolated and non-isolated NVFGB. The role of hepatic enzyme measurements in the diagnosis of cystic fibrosis and biliary atresia in fetuses with NVFGB was also reviewed. RESULTS: Sixteen cases of NVFGB were followed in our center, in 10 (62.5%) of which it was an isolated finding. The incidence of biliary atresia was 12.5% and that of gallbladder agenesis was 12.5%, while no case of cystic fibrosis was reported. The gallbladder was visualized later in pregnancy or postnatally in 43.8% and 25.0% of cases, respectively. A total of seven studies, including our cohort, involving a total of 280 NVFGB cases, met the inclusion criteria for the systematic review. Overall, 20.5% of fetuses had an associated ultrasound anomaly, and the incidence of chromosomal anomaly in this group was 20.4%. In cases with isolated NVFGB, the incidence of chromosomal anomaly was 1.9%. In fetuses with normal karyotype and isolated NVFGB, the gallbladder was later visualized in 70.4% of cases, while the incidence of gallbladder agenesis, cystic fibrosis and biliary atresia was 25.2%, 3.1% and 4.8%, respectively. In fetuses with non-isolated NVFGB, the incidence of cystic fibrosis and biliary atresia was 23.1% and 18.2%, respectively. The negative predictive value of amniotic fluid enzyme levels for the prediction of severe disease (including biliary atresia or cystic fibrosis) ranged between 94% and 100% when evaluated before 22 weeks' gestation, and dropped to 88% after 22 weeks. CONCLUSIONS: In cases with persistent NVFGB, the risk of a severe postnatal condition should be considered. A detailed ultrasound scan should be offered and parents tested for cystic fibrosis gene mutation. An invasive procedure for karyotyping and measurement of liver enzyme concentrations before 22 weeks constitutes a reasonable work-up. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

No visualización de la vesícula biliar fetal en la ecografía del segundo trimestre del embarazo: estudio de cohortes y revisión sistemática de la literatura sobre el resultado postnatal OBJETIVOS: Investigar las características ecográficas y los resultados de los fetos con no visualización de la vesícula biliar fetal (NVFGB, por sus siglas en inglés) a los que se ha dado seguimiento en un hospital universitario terciario, y ofrecer una revisión exhaustiva de la literatura sobre los hallazgos prenatales y los resultados de la NVFGB. MÉTODOS: La NVFGB se definió como la no visualización de la vesícula biliar en dos exámenes ecográficos específicos realizados en un período de una semana. Primero, se revisó los registros médicos de los casos de NVFGB tratados en este hospital durante un período de 9 años. Luego, se realizó una revisión sistemática de la literatura para identificar estudios sobre NVFGB. Se evaluó la incidencia de anomalías cromosómicas, la visualización posterior de la vesícula biliar, la agenesia vesicular, la fibrosis quística y la atresia biliar en fetos con NVFGB aislada y no aislada. También se examinó la función de las mediciones de las enzimas hepáticas en el diagnóstico de la fibrosis quística y la atresia biliar en fetos con NVFGB. RESULTADOS: Se siguieron dieciséis casos de NVFGB en este centro hospitalario, lo cual fue un hallazgo aislado en 10 de ellos (62,5%). La incidencia de atresia biliar fue del 12,5% y la de agenesia vesicular del 12,5%, mientras que no se reportó ningún caso de fibrosis quística. La vesícula biliar se visualizó más tarde en el embarazo o después del parto en el 43,8% y 25,0% de los casos, respectivamente. Un total de siete estudios cumplieron los criterios de inclusión para la revisión sistemática, incluidos los de la cohorte del mencionado hospital, con un total de 280 casos de NVFGB. En total, el 20,5% de los fetos presentaban una anomalía ecográfica asociada, y la incidencia de anomalías cromosómicas en este grupo fue del 20,4%. En los casos con NVFGB aislada, la incidencia de anomalías cromosómicas fue del 1,9%. En los fetos con cariotipo normal y NVFGB aislada, la vesícula biliar se visualizó posteriormente en el 70,4% de los casos, mientras que la incidencia de agenesia vesicular, fibrosis quística y atresia biliar fue del 25,2%, 3,1% y 4,8%, respectivamente. En los fetos con NVFGB no aislada, la incidencia de fibrosis quística y atresia biliar fue del 23,1% y 18,2%, respectivamente. El valor predictivo negativo de los niveles de enzimas del líquido amniótico para la predicción de una enfermedad grave (como la atresia biliar o la fibrosis quística) se situó entre el 94% y el 100% cuando se evaluó antes de las 22 semanas de gestación, y bajó al 88% después de las 22 semanas. CONCLUSIONES: En casos con NVFGB persistente, se debe considerar el riesgo de una condición postnatal severa. Se debe ofrecer una ecografía detallada y la madre y el padre deben someterse a pruebas para detectar mutaciones del gen de la fibrosis quística. Un examen diagnóstico razonable incluye un procedimiento invasivo para el cariotipado y la medición de las concentraciones de enzimas hepáticas antes de las 22 semanas.

Three-dimensional transvaginal sonography in local staging of cervical carcinoma: description of a novel technique and preliminary results.

OBJECTIVE: To evaluate the feasibility of three-dimensional multiplanar sonography in the local staging of cervical carcinoma. METHODS: Between January 2005 and May 2006, 14 patients with invasive cervical carcinoma underwent transvaginal volume ultrasound examination prior to primary surgery. Parametrial invasion was evaluated in the coronal plane, while both bladder and rectal invasion were evaluated in the sagittal plane. Ultrasound findings were compared with surgical and histological results. RESULTS: In 12 of the 14 cases, three-dimensional ultrasound findings were compatible with pathology results. In the remaining two cases, either infiltration of right parametrium or rectal invasion were suspected at ultrasound but not confirmed at pathology. CONCLUSIONS: Despite the small number of patients evaluated, three-dimensional multiplanar sonography appears to be a promising technique in the local staging of cervical carcinoma.