Demir Merve, Sertel Emre, Ture Mehmet Zeki
Department of Obstetrics and Gynecology, Erzin State Hospital, Hatay, Turkey.
Department of Obstetrics and Gynecology, Gebze Fatih State Hospital, Kocaeli, Turkey.
Eur J Obstet Gynecol Reprod Biol. 2021 May;260:64-69. doi: 10.1016/j.ejogrb.2021.03.016. Epub 2021 Mar 15.
Cantrell's pentalogy is a congenital multiple malformation consisting of midline supraumbilical thoraco-abdominal wall defects, anterior and pericardial diaphragm defects, lower sternum defects, ectopia cordis and various intracardiac anomalies. Complete pentalogy is very rare. Some additional anomalies may accompany pentalogy and there are cases in the literature where chromosomal anomalies and pentalogy are seen. Cases of Cantrell's pentalogy in twin pregnancies are rare. Twin pregnancies with Cantrell's pentalogy in both fetuses are one of the rarest cases in the literature. In this study, we presented a twin pregnancy case with Cantrell's pentalogy in both fetuses and we reviewed twin pregnancy cases in which Cantrell's pentalogy was seen in the literature. In our case, anomalies were found in both fetuses in the evaluation performed on a 32-year-old, gravida 2, para 1 woman with 10 weeks + 5 days monochorionic-monoamniotic twin pregnancy. The first fetus had ectopia cordis, cystic hygroma and increased nuchal thickness (4.6 mm), and the anterior abdominal wall was in contact with the amniotic band. The second fetus had ectopia cordis omphalocele, cystic hygroma, holoprosencephaly and a single lower extremity deficiency. Both fetuses were pre-diagnosed with Cantrell's pentalogy and the parents were informed about the adverse course of the fetuses. After the completion of the legal procedures, with the approval and decision of the parents, termination was made in the 11th week of pregnancy. External images of the fetuses confirmed the diagnosis. The family denied the autopsy procedure. When we review the literature, twin pregnancies complicated by Cantrell's pentalogy are divided into 3 groups: Group1- cases where one of the twins has completely normal phenotype and the other twin has Cantrell's pentalogy; Group2- cases where one of the twins has Cantrell's pentalogy and the other twin does not have the Cantrell's pentalogy but has several anomalies; Group3- cases where both fetuses have Cantrell's pentalogy. In conclusion, early diagnosis of twin pregnancy cases complicated by Cantrell's pentalogy and determination of all anomalies in both fetuses are very important in terms of obstetric management.
坎特雷尔五联症是一种先天性多发性畸形，包括中线脐上胸腹壁缺损、前膈和心包膈缺损、胸骨下部缺损、心脏异位以及各种心脏内异常。完全型五联症非常罕见。五联症可能伴有一些其他异常，文献中也有染色体异常与五联症同时出现的病例。双胎妊娠合并坎特雷尔五联症的病例罕见。两个胎儿均患有坎特雷尔五联症的双胎妊娠是文献中最罕见的病例之一。在本研究中，我们报告了一例两个胎儿均患有坎特雷尔五联症的双胎妊娠病例，并回顾了文献中出现的双胎妊娠合并坎特雷尔五联症的病例。在我们的病例中，对一名32岁、孕2产1、孕10周 + 5天的单绒毛膜单羊膜囊双胎妊娠女性进行评估时，发现两个胎儿均有异常。第一个胎儿有心脏异位、囊状水瘤和颈项透明层增厚（4.6毫米），前腹壁与羊膜带相连。第二个胎儿有心脏异位、脐膨出、囊状水瘤、前脑无裂畸形和单下肢缺如。两个胎儿均被初步诊断为坎特雷尔五联症，并告知了父母胎儿的不良预后。在完成法律程序后，经父母同意并决定，于妊娠第11周终止妊娠。胎儿的外部影像证实了诊断。家属拒绝尸检。当我们回顾文献时，双胎妊娠合并坎特雷尔五联症分为3组：第1组——其中一个双胎儿表型完全正常，另一个双胎儿患有坎特雷尔五联症；第2组——其中一个双胎儿患有坎特雷尔五联症，另一个双胎儿虽没有坎特雷尔五联症但有几种异常；第3组——两个胎儿均患有坎特雷尔五联症。总之，对于双胎妊娠合并坎特雷尔五联症的病例，早期诊断以及确定两个胎儿的所有异常情况对产科管理非常重要。
