Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review.

Abnormalities of the left brachiocephalic vein (LBCVA) are rare and poorly studied prenatally. An association with congenital heart defects (CHD), extracardiac and genetic abnormalities was described. The aim of our study was to estimate the rate and summarize the available evidence concerning prenatal diagnosis, associated anomalies, and outcomes of these anomalies. A systematic literature review was carried out selecting studies reporting on prenatal diagnosis of LBCVA, including unpublished cases from our experience. Frequencies were pooled from cohort studies to calculate prenatal incidence. Pooled proportions were obtained from all the studies including rates of associated CHD, extracardiac or genetic abnormalities and neonatal outcomes. The search resulted in the selection of 16 studies with 311 cases of LBCVA, with an incidence of 0.4% from six cohort studies. CHD occurred in 235/311 (75.6%) fetuses: 23 (7.4%) were major in cases of double, retroesophageal or subaortic course and 212 (68.2%) were minor in cases of absence (always associated with a persistent left superior vena cava) or intrathymic course. Data on other associated outcomes were scarce showing rare extracardiac anomalies (3.5%), rare genetic abnormalities (RASopathies and microdeletions associated with the retroesophageal course), and neonatal outcomes favorable in most cases, particularly in intrathymic forms.

Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature.

Objective: To evaluate the ultrasonographic features and pregnancy outcomes in women with ductus venosus-systemic shunt and systematic review of the literature.Method: A computerized search was conducted to identify cases of ductus venosus-systemic shunt between September 2016 and January 2018. Six patients were identified. Antenatal records and neonatal outcomes are presented. A systematic Embase, SCOPUS, and Medline search of published literature from 1991 to 2018 was performed using the terms "ductus venosus," "agenesis," "absence," "absent," "missing," "aberrant," and "variant."Results: Additional structural anomaly such as esophageal atresia with tracheoesophageal fistula was observed in one case. In other case, termination of pregnancy was performed due to Down syndrome. Other two of the six fetuses were monochorionic multiple pregnancies. In our review of the literature, additional anomalies were observed in 9 (42%) of the 21 cases.Conclusion: Our observation suggests that ductus venosus-systemic shunt can be associated with Down syndrome. Detailed examination should be performed to rule out additional abnormalities. Prognosis is good if the pathology is isolated.

Diagnóstico prenatal y evolución en fetos con agenesia de ductus venoso / Prenatal diagnosis and evolution in fetuses with ductus venosus agenesis

Antecedentes: El ductus venoso es una derivación vascular (shunt) presente en el feto que permite el paso de sangre oxigenada de la vena umbilical (VU) hacia la circulación coronaria y cerebral. Su agenesia se asocia con defectos cromosómicos, síndromes genéticos, defectos estructurales y complicaciones prenatales como crecimiento intrauterino retardado y muerte fetal. Resultados: Se analizaron 15 agenesias de ductus venoso (ADV) en gestaciones únicas entre enero de 2010 y diciembre de 2013. El 80 por ciento de ellas fueron diagnosticadas en la exploración rutinaria de la semana 12. Se realizó estudio de cariotipo en el 53 por ciento de los casos (8/15), bien por riesgo alto de cromosomopatía en el cribado combinado y/o translucencia nucal aumentada (75 por ciento) o malformaciones asociadas (25 por ciento). Sólo hubo un diagnóstico de trisomía 21 y postnatalmente de una microdelección del cromosoma 7. Realizaron interrupción legal del embarazo un total de 4 pacientes (por trisomía 21 o por alteraciones estructurales). Entre las 11 gestaciones restantes un 27 por ciento se diagnosticó RCIU, hubo una muerte neonatal a las 12 horas de vida por síndrome de aspiración meconial e hipertensión pulmonar. En un 60 por ciento se objetivó la presencia de un drenaje umbilicohepático y entre los 6 restantes con shunt portosistémico, 4 tenían conexión entre la VU y la VCI. Conclusión: La ADV es una anomalía infrecuente del sistema venoso fetal, de difícil diagnóstico y con mal pronóstico en aquellos casos en que se asocia con otros marcadores y/o anomalías estructurales que pueden aparecer tardíamente, por lo que debe realizarse un seguimiento adecuado.

Background: The ductus venosus (DV) is a unique shunt that allows direct passage of oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation by a preferential passage through the foramen ovale. DV agenesis (DVA) is associated with chromosomal abnormalities, genetic syndromes, structural defects and prenatal complications such as intrauterine growth retardation (IUGR) or even stillbirth. Results: We report 15 cases of DVA in singleton pregnancies between January 2010 and December 2013. 80 percent of them were diagnosed on routine examination during the 11-14 weeks scan. Karyotyping was performed in 53 percent of cases (8/15) by high risk of chromosomal abnormalities in the first trimester combined screening and/or an increased nuchal translucency thickness in 6/8 (75 percent), or associated malformations 2/8 (25 percent). There was only one fetus diagnosed of trisomy 21 by amniocentesis and another fetus was postnatally diagnosed of a microdeletion of chromosome 7. 4 patients performed legal abortions (the trisomy 21 and in 3 cases for severe structural malformations). Among the remaining 11 pregnancies, 3 (27 percent) were diagnosed with IUGR and there was a neonatal death at 12 hours of life for meconium aspiration syndrome and pulmonary hypertension. 60 percent of the fetus presented an intrahepatic drainage and among the remaining 6 with portosystemic shunt, in 4 a connection between the UV and the inferior vena cava was observed. Conclusion: DVA is a rare anomaly of the fetal venous system, difficult diagnosis and poor prognosis in cases associated with other markers and/or structural abnormalities that may even appear late. A detailed survey of fetal anatomy and follow up of these fetuses is necessary.