■坎特雷尔综合征,一种罕见的先天性疾病,其特点是中线腹壁上有一系列独特的缺陷,胸骨下部,前膈,和膈心包以及某种形式的心内缺损。到目前为止,全球范围内有关Cantrell综合征胎儿的大多数报告都是病例报告或文献综述,关于Cantrell综合征胎儿的全面研究很少报道,尤其是国内文学。本研究旨在对15例Cantrell综合征胎儿进行详细分析,重点关注他们的产前超声表现和产后检查结果。
■对2018年3月至2023年7月之间通过产前超声检查诊断为Cantrell综合征的15例胎儿进行了回顾性分析。超声检查按照中国产科超声指南进行,包括妊娠早期胎儿超声扫描和常规妊娠中期胎儿超声扫描。在11至13+6周的早期妊娠胎儿超声扫描期间,评估了妊娠年龄并测量了颈透明层(NT)。NT增厚的诊断标准为NT≥3.0mm,并进行了严重胎儿结构畸形的筛查,包括头部的筛查,脖子,胸部,腹部内容,腹壁,四肢和其他结构。在常规的孕中期胎儿超声扫描中,对胎儿生物测量进行了评估,并进行了解剖学调查.对产前超声诊断为Cantrell综合征的胎儿进行诱导后和产后结局随访,用电子病历系统查询,或电话跟进。Cantrell综合征胎儿的产前超声影像学表现及特点,并对其引产后或产后检查结果进行全面总结和分析。
■这项研究涉及平均年龄为30.1±3.5岁的孕妇,在妊娠11至26周之间进行超声诊断(平均:13.4±4.0周)。在15个案例中,一对双胞胎中有10例单胎怀孕和5例双胞胎。这些双胞胎包括3个单绒毛膜双胎和2个二胎双胎双胎,在所有5例双胞胎中,其中一个都存在Cantrell综合征。13例通过在妊娠早期进行的胎儿超声扫描诊断,其中10例为单胎妊娠,3例为双胎妊娠(1例单绒毛膜双胎和2例双绒毛膜双胎)。妊娠早期超声扫描漏诊了一例,漏诊率为7.1%。2例诊断为孕中期胎儿超声检查,都涉及单绒毛膜羊膜双胞胎。一个案例是在19周时从另一家医院转诊,而另一个最初未被诊断为Cantrell综合征,并在26周时被诊断。产前超声检查显示所有15个胎儿的异常模式一致,包括异位脊髓合并腹部突出肿块的表现。具体来说,4例诊断为脐膨出,4腹裂,其余7例腹部突出块表面的膜覆盖不确定。六个胎儿完全异位,而9人部分异位。5例进行胎儿超声心动图检查,发现心内畸形4例(80%)。值得注意的是,2例诊断为妊娠中期,其中1例右室发育不全伴室间隔缺损,1例右室双出口伴室间隔缺损。此外,2例诊断为妊娠早期,一个有单心房和单心室,另一个是大动脉完全移位。在15例Cantrell综合征胎儿中,13(86.7%)在其他系统中表现出伴随畸形。其中包括7例脊柱畸形,4肢体异常,3脐带异常,2中枢神经系统畸形,1面部畸形,和2个胎儿水肿。脊髓畸形是最常见的伴随畸形,占所有病例的46.7%。在接受NT检查的14名胎儿中,7(50%)增加了NT,其中5人患有囊性水瘤。所有10例单胎妊娠都进行了人工流产,诱导胎儿的外观与产前超声表现一致。在双胞胎怀孕中,2例胎儿宫内死亡,而2进行了选择性还原。值得注意的是,这些病例中有3例表现出与产前超声表现一致的产后外观,而1例患者在分娩过程中选择性复位后表现出模糊的外观。一个案件失去了后续行动。对4个诱导胎儿进行基因检测,均未产生任何相关的致病性或潜在致病性变异。
■总而言之,Cantrell综合征在产前表现为异位心脏合并腹部突出肿块,常伴有心内畸形和其他伴随的畸形。虽然大多数病例可以在孕早期诊断,仍然存在漏诊的可能性,这强调了在妊娠中期密切随访的重要性。
UNASSIGNED: Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior diaphragm, and the diaphragmatic pericardium in addition to some form of intracardiac defect. So far, most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews, and few comprehensive studies on fetuses with Cantrell syndrome have been reported, especially in domestic literature. This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses, focusing on their prenatal ultrasound manifestations and postnatal examination outcomes.
UNASSIGNED: A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023. Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China, including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan. Gestational age was evaluated and nuchal translucency (NT) was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks. The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed, including the screening of the head, the neck, the thorax, the abdominal content, the abdominal wall, the limbs and other structures. During routine second-trimester fetal ultrasound scan, the fetal biometry was assessed and an anatomy survey was performed. Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation, inquiries with the electronic medical record system, or telephone follow-up. The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome, as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed.
UNASSIGNED: The study involved pregnant women of the average age of 30.1±3.5 years, with ultrasound diagnoses made between 11 to 26 weeks of gestation (mean: 13.4±4.0 weeks). Among the 15 cases, there were 10 singleton pregnancies and 5 cases of one twin in a pair of twins. These twins comprised 3 monochorionic diamniotic twins and 2 dichorionic diamniotic twins, with Cantrell syndrome present in one of the twins in all 5 cases. Thirteen cases were diagnosed by fetal ultrasound scan conducted in the first trimester, with 10 being singleton pregnancies and 3 being twin pregnancies (1 monochorionic diamniotic twins and 2 dichorionic diamniotic twins). One case was missed in the first-trimester ultrasound scan, resulting in a missed diagnosis rate of 7.1%. Two cases were diagnosed in second-trimester fetal ultrasound scan, both involving monochorionic diamniotic twins. One case was a referral from another hospital at 19 weeks, while the other was initially not diagnosed for Cantrell syndrome and was diagnosed at 26 weeks. Prenatal ultrasound examinations revealed a consistent pattern of abnormalities across all 15 fetuses, including manifestations of ectopic cordis combined with abdominal protrusion mass. Specifically, 4 cases were diagnosed with omphalocele, 4 with gastroschisis, and the remaining 7 had uncertain coverage of the membrane on the surface of the abdominal protrusion mass. Six fetuses had complete ectopic cordis, while nine had partial ectopic cordis. Fetal echocardiography was performed in 5 cases, revealing intracardiac malformations in 4 cases (80%). Notably, 2 cases were diagnosed in the second trimester, including one with right ventricular hypoplasia accompanied by interventricular septal defect and another with double outlet right ventricle accompanied by interventricular septal defect. Additionally, 2 cases were diagnosed in the first trimester, one with single atrium and single ventricle, and the other with complete transposition of the great arteries. Of the 15 cases of fetuses with Cantrell syndrome, 13 (86.7%) exhibited concomitant malformations in other systems. These included 7 cases of spinal malformations, 4 limb abnormalities, 3 umbilical cord abnormalities, 2 central nervous system malformations, 1 facial malformation, and 2 fetal hydrops. Spinal malformations were the most prevalent concomitant malformation, accounting for 46.7% of all cases. Among the 14 fetuses undergoing NT examination, 7 (50%) had increased NT, and 5 of them had cystic hygroma. All 10 singleton pregnancies underwent induced abortion, and the appearance of the induced fetuses was consistent with the prenatal ultrasound manifestations. In the twin pregnancies, 2 cases experienced intrauterine fetal death, while 2 underwent selective reduction. Notably, 3 of these cases exhibited postnatal appearances consistent with prenatal ultrasound manifestation, while 1 case showed an indistinct appearance after selective reduction during delivery. One case was lost to follow-up. Genetic testing was conducted for 4 induced fetuses, none of which yielded any relevant pathogenic or potentially pathogenic variants.
UNASSIGNED: In conclusion, Cantrell syndrome manifests prenatally with ectopic cordis combined with abdominal protrusion mass, often accompanied by intracardiac malformations and other concomitant malformations. While most cases can be diagnosed in the first trimester, there remains the possibility of missed diagnoses, which underscores the importance of close follow-up in the second trimester.