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.

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.

Retraso del crecimiento intrauterino de causa genética: síndrome de Wolf-Hirschhorn / Intrauterine growth retardation of genetic cause: Wolf-Hirschhorn syndrome

El síndrome de Wolf-Hirschhorn es una enfermedad genética rara provocada por la pérdida de material genético en el brazo corto del cromosoma 4. Los individuos afectos presentan un fenotipo característico con apariencia de 'casco de guerrero griego', retraso en el desarrollo y epilepsia. El pronóstico es desfavorable lo que condiciona la importancia de su detección prenatal. Presentamos un caso de síndrome de Wolf-Hirschhorn diagnosticado postnatalmente que en el período prenatal únicamente mostraba un retraso del crecimiento intrauterino severo y polihidramnios. El estudio genético, solicitado de manera urgente a las 33 semanas, señaló un cariotipo 46 XX normal. Destacamos la importancia del estudio genético molecular durante el período prenatal en los casos de retraso del crecimiento intrauterino severo, en los que se sospeche una cromosomopatía, de cara a confirmar el diagnóstico, establecer el pronóstico y realizar consejo genético a los progenitores (AU)

The Wolf-Hirschhorn syndrome is a rare genetic disease caused by the loss of genetic material in the short arm of chromosome 4. The affected individuals have a characteristic 'Greek warrior helmet'-like phenotype, a delay in the development and epilepsy. The prognosis is poor, which determines the importance of prenatal screening. We present a case of postnatally diagnosed Wolf-Hirschhorn syndrome, which during the prenatal period just showed a severe intrauterine growth restriction and polyhydramnios. The requested genetic study, performed urgently at 33 weeks, seemed to show a normal 46, XX karyotype. We stress the importance of the molecular genetic study during the prenatal period in severe intrauterine growth restriction cases where the existence of a genetic disease is suspected, in order to confirm the diagnosis, establish the prognosis and provide parents with genetic counseling (AU)

Diagnóstico prenatal de Pentalogía de Cantrell / Antenatal diagnosis of Cantrell pentalogy

La pentalogía de Cantrell es una anomalía congénita rara que acontece 1 por 100.000 embarazos; los defectos extensos a nivel de la fusión de la línea media craneofacial, torácica y abdominal caracterizan a este cuadro con una elevada morbimortalidad. Presentamos dos casos de pentalogía de Cantrell diagnosticados en nuestro hospital a las 12 semanas de gestación, ambos en gestaciones únicas, con cariotipo 46XX y uno de ellos con el hallazgo de microdelección de cromosoma 22q11 (AU)

Pentalogy of Cantrell is a rare congenital abnormality reported in 1 per 100,000 pregnancies. Large defects in craniofacial midline fusion, as well as thoracic and abdominal defects, are the main features of this syndrome that entails high morbidity and mortality. We present two cases of pentalogy of Cantrell identified in our hospital at 12 weeks of pregnancy. Both were singleton pregnancies, with 46XX karyotype, and one of them with a microdeletion in chromosome 22q11. We describe the clinical maternal characteristics, as well as the most relevant ultrasonographic findings (AU)

Neonatal magnetic resonance imaging in double aortic arch diagnosed prenatally by ultrasound.

Congenital double aortic arch (DAA) is an uncommon vascular anomaly; however, its prenatal detection is associated with congenital heart defects and chromosomal abnormalities, including 22q11 deletion. We present a case of DAA diagnosed prenatally. DAA can be diagnosed by prenatal ultrasound in the transverse three vessel-trachea view, which shows a trident image formed by a complete vascular ring and the ductus arteriosus. Postnatal magnetic resonance images in this view correlate well with prenatal ultrasound images and help in confirmation of diagnosis, evaluation of the risk of airway or esophageal compression, and planning of surgery.

[Ultrasound scan of the fetal thymus]. / Evaluación ecográfica del timo fetal.

There is an increased interest nowadays on ultrasound analysis of the fetal thymus. Abnormal fetal thymic growth have been associated with DiGeorge syndrome, conotruncal cardiac malformations, chromosomal abnormalities and adverse outcome in different perinatal conditions as intrauterine growth restriction, preterm birth and others. Different methodologies that measure the fetal thymus by ultrasound have been published, however there is not a consensus of which one is the most useful. Our aim is to describe these methodologies and discuss their clinical applications.

[Perinatal outcome after prenatal diagnosis of intra-abdominal umbilical vein varix]. / Resultados perinatales luego del diagnóstico ecográfico prenatal de variz de la vena umbilical intraabdominal.

BACKGROUND: Increased number of cardiovascular disorders diagnosed prenatally is not a consequence of a spontaneous growing, but of the advance in echographic techniques, specifically, high-resolution echography, color Doppler, a higher knowledge and systematization in exploring fetal anatomy. OBJECTIVE: To describe the sonographic findings and perinatal outcomes in cases with prenatal ultrasound diagnosis of intraabdominal umbilical vein varix (UVV). METHODS: Retrospective study of cases with prenatal ultrasound diagnosis of UVV. The diagnosis is performed at the level of the abdominal circumference when the diameter of the vessel is above the established parameters for a certain gestational age. Variables concerning maternal-fetal features, ultrasound findings and perinatal outcomes of affected cases are described. RESULTS: During the period August 2008 to August 2012 14 cases of intra-abdominal UVV were diagnosed in our center with a mean gestational age at diagnosis of 29 weeks. Of the 14 cases, 35% had associated anomalies, mostly cardiovascular anomalies. No chromosomal defects were detected. Perinatal outcomes in newborns were favorable, with mean gestational age at delivery of 38 weeks. Only one case of monochorionic-monoamniotic twin pregnancy required preterm elective termination secondary to a twin to twin transfusion syndrome. CONCLUSION: Prenatal diagnosis of intra-abdominal UVV should be followed by further studies given its possible association with other anomalies, chromosomal defects and cases of stillbirth. However, isolated cases of UVV, representing a majority, often evolve favorably with few complications.

[Perinatal outcome after prenatal diagnosis of intra-abdominal umbilical vein varix]. / Resultados perinatales luego del diagnóstico ecográfico prenatal de variz de la vena umbilical intra-abdominal.

BACKGROUND: Progress in echographic techniques, particularly, high-resolution echography and color Doppler, as well the higher deep on knowledge and systematization in fetal anatomy exploration, are the main responsible of the increased number of cardiovascular anomalies diagnosed prenatally. OBJECTIVE: To describe the sonographic findings and perinatal outcomes in cases with prenatal ultrasound diagnosis of intra-abdominal umbilical vein varix. MATERIAL AND METHODS: A descriptive and retrospective study of cases with prenatal ultrasound diagnosis of umbilical vein varix. The diagnosis is performed at the level of the abdominal circumference when the diameter of the vessel is above the established parameters for a certain gestational age. Variables concerning maternal-fetal features, ultrasound findings and perinatal outcomes of affected cases are described. RESULTS: From August 2008 to August 2012 14 cases of intraabdominal umbilical vein varix were diagnosed in our center with a mean gestational age at diagnosis of 29 weeks. Of the 14 cases, 35% had associated anomalies, mostly cardiovascular anomalies. No chromosomal defects were detected. Perinatal outcomes in newborns were favorable, with mean gestational age at delivery of 38 weeks. Only one case of monochorionic-monoamniotic twin pregnancy required preterm elective termination secondary to a twin-to-twin transfusion syndrome. CONCLUSION: Prenatal diagnosis of intra-abdominal umbilical vein varix should be followed by further studies given its possible association with other anomalies, chromosomal defects and cases of stillbirth. However, isolated cases of umbilical vein varix, representing a majority, often evolve favorably with few complications.

Visualización ecográfica y diagnóstico prenatal del arco aórtico derecho / Prenatal ultrasound-guided visualisation and diagnosis of right aortic arch

Presentamos un caso de diagnóstico prenatal de arco aórtico derecho (AAD) aislado y se describe el manejo diagnóstico-clínico de esta entidad. En la exploración ecográfica fetal de una gestante de 20 semanas se detectó un AAD sin otras malformaciones asociadas. Mediante un corte axial del tórax fetal a nivel del plano de tres-vasos-tráquea, se comprobó el trayecto anómalo del arco aórtico, a la derecha de la tráquea. El AAD es una entidad rara (prevalencia del 0,1%) y sus variantes pueden condicionar sintomatología compresiva y estar relacionadas con anomalías cardíacas (hasta 90%) y/o con la microdeleción 22q11 (hasta 46%). El corte ecográfico de tres-vasos-tráquea es fundamental para su diagnóstico prenatal y tras su detección está indicada una evaluación exhaustiva del corazón fetal, distinguir sus variantes y/o un estudio cromosómico-genético específico. En presencia de otras anomalías el pronóstico es pobre; los casos aislados suelen tener una evolución postnatal oligo o asintomática(AU)

We report a case of prenatally diagnosed isolated right aortic arch (RAA) and describe the procedure for its ultrasound-guided diagnosis and clinical management. The ultrasound scan of a 20-week-old fetus revealed an isolated RAA. The diagnosis was achieved using the 3 vessels and trachea view, in which the aortic arch was visualized to the right side of the trachea. RAA is a rare finding (incidence, 0.1%) and its variants may cause compressive symptoms and be associated with congenital heart defects (up to 90%) and/or 22q11 microdeletion (up to 46%). The 3 vessels and trachea view is essential for the prenatal diagnosis of RAA. Detection of this condition must be considered an indication for fetal echocardiography, to distinguish its variants, and a genetic study is also recommended. Isolated RAA is usually asymptomatic, although the outcome of RAA associated with other abnormalities is uncertain(AU)

[Prenatal ultrasonic diagnosis and follow-up of fetal splenic cysts: report of two cases. Review of the literature]. / Diagnóstico ecográfico prenatal y seguimiento de quistes esplénicos fetales: a propósito de dos casos. Revisión de la bibliografía.

Congenital splenic cysts are rare entities wich are not frequently diagnosed in prenatal sonographies and there is only a few literature wich report these medical cases. The aim of this article is to introduce this sonographic discovery and study whether there are impacts for the newborn, association with cormosomopathy or fetal pathology. We describe two medical cases of fetal splenic cysts wich were diagnosed in our service by ultrasonography at 29 and 32 weeks of gestation, their antenatal monitoring and postnatal evolution. Besides theses, it is made a review of this entity in medical literature, examination about the: etiology, prenatal diagnosis, prenatal and postnatal following and complications. In conclusion, the congenital splenic cyst has a good prognosis with an spontaneous postnatal resolution in the majority of the cases. No association was observed between cromosopathy or fetal pathology with the examined cases.

[Diagnosis of isolated fetal aberrant right subclavian artery]. / Diagnóstico de arteria subclavia derecha aberrante prenatal aislada.

UNLABELLED: A case of a fetal isolated aberrant right subclavian artery (ARSA) diagnosis and discuss its clinical implications and the methodology used to assess the fetal right subclavian artery by transabdominal ultrasound in normal cases and those with ARSA is reported. CLINICAL CASE: A 35-year-old pregnant woman in her twentieth week of pregnancy was evaluated at our Fetal Medicine Unit. An isolated ARSA was detected by a transabdominal ultrasound scan of the fetus. The visualization of this anomaly was achieved through an axial view of the fetal thorax, at the level of the three vessels and trachea scanning plane. It was observed that the origin of ARSA from the aortic arch was close to the ductus arteriosus and it followed a retrotracheal course towards the right arm. The described methodology used to assess the right subclavian artery could be useful for prenatal diagnosis in cases of ARSA. Based on this protocol, further studies could be performed to evaluate the utility of ARSA as a sonographic marker for chromosomal abnormality and congenital heart disease. After the diagnosis of an isolated ARSA, the performance of a fetal karyotype test is still debatable.