Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review

Abstract

Pentalogy of Cantrell (POC) is a rare condition characterized by complete or partial expression of 5 types of congenital birth defects originating in (1) the lower sternum, (2) the anterior diaphragm, (3) the diaphragmatic pericardium, (4) the midline/ventral supraumbilical abdominal wall region, and (5) the heart. POC can be diagnosed antenatally by means of ultrasonography (US), the task being difficult if defects are minor. Advances in the field of US and the introduction of the first morphology trimester as state-of-the-art pregnancy monitoring, facilitate the early diagnosis of this condition. We performed a systematic review on 67 reported cases of POC diagnosed in the first trimester of pregnancy (published from January 1980 to July 2019). The aim of our systematic review was twofold: to assess the main US findings in the first trimester of pregnancy and to increase awareness of early diagnostic possibilities. Our study showed that POC can be diagnosed in the first trimesterof pregnancy based on key US findings such as the association between omphalocele and ectopia cordis. When these two anomalies are present, increased nuchal translucency can also be considered a marker of POC in the first trimester.

Surgical treatment of neonatal Cantrell pentalogy: a case report and literature review

“…Patients can show the existence of all five defects, or they may only have some defects. It can be divided into complete type and incomplete type ( 6 , 7 ). Defects also vary greatly in degree.…”

Pentalogía de Cantrell diagnosticada en el primer trimestre: reporte de caso

“…Grigore et al 13 , en el año 2020, publicaron una revisión sistemática de la literatura en la que incluyeron 67 casos con pentalogía de Cantrell diagnosticados en el primer trimestre del embarazo y que fueron publicados desde enero de 1980 hasta julio de 2019. En los hallazgos ecográficos se reportó que todos los casos tuvieron ectopia cordis; sin embargo, en seis de ellos la protuberancia cardíaca estaba parcialmente fuera de la cavidad torácica.…”

“…Con la autopsia fetal se hubiese podido valorar la anatomía cardíaca y del diafragma, estructuras difíciles de valorar a las 12 semanas de gestación por ecografía. De la misma manera, Grigore et al 13 , en el año 2020, reportaron que 12 de los 67 casos analizados provenían de embarazos gemelares, y cuatro de ellos eran producto de fecundación in vitro; esto en concordancia con otros reportes de aumento de las tasas de defectos congénitos con las técnicas de reproducción asistida.…”

Pentalogy of Cantrell – Case Report

“…Pentalogy of Cantrell or Cantrell Syndrome is a rare developmental disorder in the course of which some characteristic birth defects are observed: loss of the anterior abdominal cavity above the level of the navel, developmental disorders of the lower part of the sternum, loss of the diaphragmatic part of the pericardium and congenital defects of the heart or large Health Problems of Civilization eISSN: 2354-0265, ISSN: 2353-6942 vessels [1,2]. This defect usually arises between the 14 th and 18 th day of embryonic life, and the conditions underlying its emergence are disorders of mesoderm migration [3,4].…”