What is the Survival Rate in Prenatally Detected Cantrell’s Pentalogy?

Abstract

Cantrell's pentalogy is a congenital defect characterized by uncompleted fusion of the anterior chest wall, resulting in an extrathoracic location of the heart. Ultrasound diagnosis during the first trimester of prenatal life is possible, and termination of pregnancy is usually chosen by pregnant women. We analysed 57 fetuses: 56 from literature and one additional recent case from our institute (from 2016) to evaluate what was the survival rate reported after prenatal diagnosis, including the possibility to terminate the pregnancy, intrauterine deaths and neonatal deaths. We found 10 survivors -18% since 1984.Despite dismal prognosis of fetal ectopia cordis, there is a chance for postnatal survivorship probably due to evolving anatomical structures, not only in the first trimester of pregnancy but also during the following weeks of prenatal life. Key words: ectopia cordis, Cantrell syndrome, diaphragmatic herniaCorresponding author: majkares@uni.lodz.pl Submitted: 2015Submitted: -12-11, accepted: 2016 INTRODUCTIONCantrell's pentalogy is an anomaly resulting from a defect in embryologic development and consists of the following: a deficiency of the anterior diaphragm, a midline supra-umbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities and a defect of the lower sternum. MATERIAL AND METHODSWe analyzed the published reports of prenatal Cantrell's pentalogy from the literature, since 1984, which were detected in 1 st or second trimester of pregnancy. (Table 1), and focused on the gestational age at the time of diagnoses, number of termination of pregnancies, intrauterine demises and neonatal follow-up. The last case from 2016 from our institution is presented below:A 28-year-old woman (G1, P0) had no history of intake of any teratogens or exposure to unusual environment during the antenatal period. The family history was negative for congenital anomalies or genetic abnormalities, and there was no-cosanguinity. A screening ultrasound at 12 weeks of pregnancy revealed a nuchal translucency of 3,8 mm, nasal bone present and omphalocele (containing liver, stomach and cardiac apex)(Foto 1, 2-cine, 3). Biochemical tests of maternal blood showed PAPPA-A of 0,3 MoM and free bHCG of 0,733 MoM. Chorionic villus sampling was nondiagnostic and amniocentesis showed a karyotype of 46, XX. The pregnant women was offered termination of pregnancy, however, she decided to continue her pregnancy and to deliver at a tertiary obstetrical and cardiac center. Prenatal echocardiography at 18, 20, 27 and 30 th week of gestational age revealed a fourchamber heart with normal flow in the great arteries. Ultrasound biometry was adequate. At 27 th week due to visualization of intestines in fetal chest cavity suggesting diaphragmatic hernia (DH), MRI examination was offered and right anterior DH was confirmed. In the second half of pregnancy, the position of the fetal heart and size of omphalocele changed: there was an improvement in 'niche' in the fetal chest and a decrea...

Diagnóstico prenatal de Pentalogía de Cantrell: reporte de caso

“…Pośpiech-Gąsio, en ocasión de la publicación de un caso, reúne los casos publicados con diagnóstico prenatal de SC, encontrando 57 casos, en su gran mayoría evaluados en el primer trimestre. De ellos, únicamente 10% sobrevivió, 10% tuvo muerte perinatal y 10% muerte fetal (18) . Podríamos decir que el pronóstico, en líneas generales, se basa en la presencia de ectopia cordis, la complejidad de la malformación intracardiaca y las malformaciones de otros sistemas asociadas (19) .…”

A propósito de un caso: Resolución quirúrgica en dos tiempos de Pentalogía de Cantrell

“…La etiología de esta patología aún se desconoce, pero se describe que se encuentra asociada a factores genéticos; si bien no existe una mutación genética concreta, que se haya considerado responsable de Pentalogía de Cantrell, se han identificado muchas asociaciones como: trisomía 21, trisomía 18 o el Síndrome de Turner. Es fundamental identificarla oportunamente para adoptar una terapia adecuada ante todos los defectos descritos, puesto se reporta una supervivencia reducida (no mayor al 5% incluso tras el cierre del defecto) [1,[4][5][6].…”