Isolated fetal pericardial effusion follow-up: Should we worry?

INTRODUCTION AND OBJECTIVES: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. METHODS: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over ten years, as well as the evolution of the patients to the present. RESULTS: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: two patients with metabolic disease, two patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and four patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. CONCLUSIONS: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre and postnatal follow-up of these cases is recommended in order to perform an early intervention.

Seguimiento del derrame pericárdico fetal aislado: ¿debemos preocuparnos? / Isolated fetal pericardial effusion follow-up: Should we worry?

Introducción y objetivos: El derrame pericárdico fetal aparece en diferentes enfermedades como hidropesía fetal, alteraciones estructurales o del ritmo cardiaco, aunque puede observarse de manera aislada. Se ha observado un incremento de su incidencia con relación a la presencia de enfermedades graves. Métodos: Análisis de la totalidad de casos de derrame pericárdico fetal aislado (DPFA) detectados en Aragón y valorados en consulta cardiológica de diagnóstico prenatal de un hospital terciario recogidos durante 10años, así como la evolución de los pacientes hasta la actualidad. Resultados: Se obtuvo una muestra de 38 fetos en 37 gestantes diagnosticados de DPFA con resolución espontánea en el 86,8%. Se registraron 2abortos (interrupciones voluntarias tras diagnóstico prenatal de deleción 22q13 y de primoinfección por citomegalovirus) y una muerte fetal espontánea. Se objetivaron alteraciones patológicas en 10/38 recién nacidos: 2pacientes con metabolopatía, 2pacientes con cromosomopatía, un paciente con hipoplasia pulmonar e hidronefrosis unilateral, un paciente con miocardiopatía hipertrófica y 4pacientes estudiados por alteraciones del desarrollo psicomotor o alteraciones congénitas oftalmológicas o auditivas. La tasa de morbilidad fue del 34,2% y de fallecimiento del 15,7%. La detección de otras alteraciones ecográficas y la alteración en el cribado del primer trimestre se asociaron de forma significativa con la presencia de patología. Conclusiones: El DPFA se ha asociado clásicamente a buen pronóstico, aunque en ocasiones se relaciona con entidades clínicas con elevada morbimortalidad: más de un tercio de los pacientes en nuestra muestra. Se recomienda un seguimiento estrecho pre y posnatal de estos casos para poder realizar una intervención precoz. (AU)

Introduction and objectives: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. Methods: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over 10years, as well as the evolution of the patients to the present. Results: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: 2patients with metabolic disease, 2patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and 4patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. Conclusions: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre- and posnatal follow-up of these cases is recommended in order to perform an early intervention. (AU)

[Isolated fetal pericardial effusion follow-up: Should we worry?] / Seguimiento del derrame pericárdico fetal aislado: ¿debemos preocuparnos?

INTRODUCTION AND OBJECTIVES: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. METHODS: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over 10years, as well as the evolution of the patients to the present. RESULTS: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: 2patients with metabolic disease, 2patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and 4patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. CONCLUSIONS: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre- and posnatal follow-up of these cases is recommended in order to perform an early intervention.

Early prenatal diagnosis of fetal abdominal cyst. Differential diagnosis of choledochal cyst / Diagnóstico prenatal temprano de quiste abdominal fetal. Diagnóstico diferencial de quiste del conducto colédoco

OBJECTIVE: To improve differential diagnosis of choledochal cyst, a rare pathology but whose prenatal diagnosis improves neonatal prognosis. CASE REPORT: Choledochal cysts are a rare congenital abnormality of biliary ducts that present as an anechoic mass in the right upper quadrant of the abdomen. In sonographic examination, a connection between the cyst and the common bile duct must be observed to confirm this diagnosis. It is more frequently diagnosed in females and in Asian countries. We describe a pregnant woman diagnosed of an intra-abdominal fetal cyst at 17-weeks of gestation. Ultrasound assessment showed a cystic mass separated from the stomach, moving other abdominal organs from its normal location and growing progressively. Postnatal study confirmed a choledochal cyst of 8-centimeters in diameter. Surgical treatment was recommended and post-surgical evolution was favourable. CONCLUSIONS: Prenatal diagnosis of choledochal cyst allowed to intensify controls to check the growth. Early surgical treatment improved neonatal prognosis and reduced the risk of sequelae

OBJETIVO: mejorar el diagnóstico diferencial del quiste de colédoco, una patología rara pero cuyo diagnóstico prenatal mejora el pronóstico neonatal. CASO CLÍNICO: los quistes de colédoco son una anormalidad congénita rara de los conductos biliares que se presentan como anecoicos, una masa en el cuadrante superior derecho del abdomen. En el examen ecográfico hay una conexión entre el quiste y se debe observar el conducto biliar común para confirmar este diagnóstico. Se diagnostica con mayor frecuencia en mujeres y en países asiáticos. Describimos a una mujer embarazada diagnosticada de un quiste fetal intrabdominal a las 17 semanas de gestación. La evaluación por ultrasonido mostró una masa quística separada del estómago, moviendo otros órganos abdominales desde su ubicación normal y creciendo progresivamente. El estudio posnatal confirmó un quiste de colédoco de 8 centímetros de diámetro. Se recomendó tratamiento quirúrgico y la evolución posquirúrgica fue favorable. CONCLUSIONES: el diagnóstico prenatal del quiste de colédoco permitió intensificar los controles para supervisar el crecimiento temprano. El tratamiento quirúrgico mejoró el pronóstico neonatal y redujo el riesgo de secuelas

Evolución cardiológica postnatal y factores asociados a la agenesia de ductus venoso de diagnóstico prenatal / Postnatal cardiac outcomes associated with the prenatal diagnosis of absence of ductus venosus

Resumen Introducción: la agenesia del ductus venoso es una anomalía infrecuente con pronóstico variable. Puede ir de hallazgo aislado a producir muerte fetal. Así mismo, puede asociarse a otras anomalías y síndromes genéticos. Material y métodos: estudio descriptivo de 12 niños con diagnóstico prenatal de agenesia del ductus venoso. Se evaluó lugar de drenaje de vena umbilical, variables perinatales, obstétricas, otras anomalías asociadas y evolución. Resultados: el 75% (9/12) presentaba drenaje extrahepático de vena umbilical; de ellos, el 44,4% (4/9) presentó insuficiencia cardiaca fetal. Al nacimiento, un 50% (6/12) asociaba anomalías cardiacas estructurales y un 41,6% (5/12) precisaron tratamiento médico. El 25% (3/12) asociaba síndromes genéticos. 25% (3/12) de niños fallecieron (100% con cardiopatía), y un tercio de los supervivientes (3/9) presentó anomalías estructurales cardiacas. El 50% (6/12) de madres tenían antecedente de aborto o muerte fetal intraútero previa, 25% (3/12) de embarazos fueron producto de reproducción asistida y 25% (3/12) de gestaciones múltiples. Conclusiones: se halló una incidencia elevada de defectos estructurales cardiacos en niños con agenesia del ductus venoso. Son más usuales si el drenaje es extrahepático y en ellos hay mayor frecuencia de anomalías genéticas y mortalidad. Un porcentaje importante de pacientes precisan tratamiento perinatal; la evolución es satisfactoria en los supervivientes.

Abstract Introduction: The absence of ductus venosus is an uncommon condition with a variable prognosis, which can vary from an isolated finding to causing foetal death. Furthermore, it can also be associated with other genetic anomalies and syndromes. Material and method: A descriptive study was conducted on 12 children with a prenatal diagnosis of absence of ductus venosus. An evaluation was made of the umbilical vein drainage site, perinatal and obstetric variables, other associated anomalies, and the outcomes. Results: Extra-hepatic drainage of the umbilical vein was observed in 75% (9/12) of cases, of which 44.4% (4/9) had foetal heart failure. At birth, 50% (6/12) were associated with cardiac structure anomalies, and 41.6% (5/12) required medical treatment. Genetic syndromes were detected in 25% (3/12) of cases. There were 25% (3/12) deaths (100% with heart disease), and one-third (3/9) of the survivors had cardiac structure anomalies. A history of abortion or previous intrauterine death was recorded in 50% (6/12) of the mothers, and in 25% (3/12) the pregnancies were the result of assisted reproduction, and 25% (3/12) multiple gestations. Conclusions: An elevated incidence of cardiac structure defects is found in children with absence of ductus venosus. They are more common if the drainage is extrahepatic, and within those, there is a higher frequency of genetic anomalies and death. A significant percentage of patients require perinatal treatment: The outcome is satisfactory in the survivors.

Interrupcion de vena cava inferior: diagnostico prenatal de sus variantes / Inferior vena cava interruption: prenatal diagnosis of its variants

La anomalía más frecuente de la vena cava inferior es su interrupción. En estos casos, el drenaje al corazón se realizará por la vena ácigos y menos frecuentemente por la vena hemiácigos. Se considera un marcador ecográfico prenatal de isomerismos y/o cardiopatías por lo que su hallazgo obliga a descartarlos realizando una ecografía detallada del corazón y del situs fetal. Además, probablemente sea de las anomalías venosas que más implicaciones clínicas pueden tener en la edad adulta por su asociación a trombosis venosa profunda y es útil conocer la anatomía para posibles futuros procedimientos quirúrgicos o cateterismos cardiacos. Por lo tanto, es interesante realizar el diagnóstico prenatal, aunque se presente de forma aislada, siendo su diagnóstico ecográfico sencillo si somos sistemáticos en la práctica de la ecografía morfológica. El signo característico ecográfico es el de «doble vaso¼ o «doble burbuja¼ en un corte axial abdominal o torácico. Presentamos los esquemas ecográficos de diagnóstico de los dos tipos de drenaje principales de la interrupción de la vena cava inferior para poder realizar el correcto diagnóstico prenatal. Para ello tomamos de referencia dos casos clínicos que no presentan cardiopatías ni isomerismos asociados.

The most frequent anomaly of the inferior vena cava is its interruption. In these cases, drains into the heart by the azygos vein and less frequently by the hemiazygos vein. It is considered a prenatal ultrasound marker of isomerisms and/or heart disease, therefore, its finding requires to discard them by performing a detailed ultrasound of the fetal heart and situs. Probably it is one of the venous anomalies with more clinical implications in adulthood due to their association with deep venous thrombosis, and it is useful to know the anatomy for possible future surgical or cardiac catheterization procedures. Therefore, it is interesting to perform the prenatal diagnosis, although isolated. In this sense, the ultrasound diagnosis of the interruption is simple if we are systematic in the practice of morphological ultrasound. The characteristic ultrasound sign of the aforementioned interruption is the "double vessel" or "double bubble" in an axial abdominal or thoracic section. We present the ultrasound diagnosis diagrams of the two main types of drainage of the inferior vena cava interruption in order to perform the correct prenatal diagnosis. For these purposes, we refer two cases with no heart diseases or isomerisms associated.

Prenatal diagnosis of umbilical cord cyst: Clinical significance and prognosis.

OBJECTIVE: Clarify the prognosis of the prenatal ultrasound diagnosis of umbilical cord cysts at any gestation trimester and to assess the ultrasound findings and chromosomal alterations associated to this entity. MATERIALS AND METHODS: Between 2003 and 2015 a multicenter study was carried out, collecting, in five centers in Spain, the associated findings and perinatal outcomes of 27 cases of umbilical cord cysts, regardless of gestational age of diagnosis. A bibliographic review was conducted to identify previous studies in order to compare them with our data. RESULTS: In our sample, the prognosis of this finding and the neonatal outcome, when isolated, is favorable, regardless of gestational age at diagnosis, multiple or unique presentation or vanishing or persistent cysts. CONCLUSIONS: It is important to properly assess the umbilical cord cyst and when is diagnosed, it is recommended to conduct a meticulous ultrasound examination searching for other associated malformations. In our study the prognosis of this finding seems to be favorable when isolated. Also, there is no relation between prognosis and gestation weeks at diagnosis. On the other hand, when we find this entity with associated anomalies, it is recommended to assess the need to carry out a karyotype.

Are congenital malformations more frequent in fetuses with intrahepatic persistent right umbilical vein? A comparative study.

OBJECTIVE: Persistent right umbilical vein (PRUV) is a vascular anomaly where the right umbilical vein remains as the only conduit that returns oxygenated blood to the fetus. It has classically been described as associated with numerous defects. We distinguish the intrahepatic variant (better prognosis) and the extrahepatic variant (associated with worse prognosis). The objective of this study was to compare rates of congenital malformations in fetuses with intrahepatic PRUV (I-PRUV) versus singleton pregnancies without risk factors. MATERIALS AND METHODS: A multicenter, crossover design, comparative study was performed between 2003 and 2013 on fetuses diagnosed with I-PRUV (n=56), and singleton pregnancies without congenital malformation risk factors (n=4050). RESULTS: Fifty-six cases of I-PRUV were diagnosed (incidence 1:770). A statistically significant association between I-PRUV and the presence of congenital malformations (odds ratio 4.321; 95% confidence interval 2.15-8.69) was found. This positive association was only observed with genitourinary malformations (odds ratio 3.038; 95% confidence interval 1.08-8.56). CONCLUSION: Our rate of malformations associated with I-PRUV (17.9%) is similar to previously published rates. I-PRUV has shown a significant increase in the rate of associated malformations, although this association has only been found to be statistically significant in the genitourinary system. Noteworthy is the fact that this comparative study has not pointed to a significant increase in the congenital heart malformation rate. Diagnosis of isolated I-PRUV does not carry a worse prognosis.

Postabortal haemorrhage and disseminated intravascular coagulation due to placenta accreta.

We describe the case of a second trimester placenta accreta presenting as postabortal haemorrhage complicated by disseminated intravascular coagulation, requiring hysterectomy.