Marler Jennifer J, Fishman Steven J, Upton Joseph, Burrows Patricia E, Paltiel Harriet J, Jennings Russell W, Mulliken John B
Department of Surgery, the Vascular Anomalies Center, and the Advanced Fetal Care Center, Children's Hospital, and Harvard Medical School, Boston, MA, USA.
J Pediatr Surg. 2002 Mar;37(3):318-26. doi: 10.1053/jpsu.2002.30831.
BACKGROUND/PURPOSE: Vascular anomalies are diagnosed prenatally with increasing frequency. The authors reviewed a group of children treated at their center who had an abnormal prenatal diagnosis to determine (1) fetal age at which the vascular anomaly was detected, (2) general diagnostic accuracy, and (3) impact on ante- and postnatal care. Their findings are compared with reported cases and series. The authors clarify appropriate terminology and underscore the need for interdisciplinary participation of specialists in the field of vascular anomalies.
Patients referred during prenatal life and children with a history of abnormal antenatal findings seen at our vascular anomalies center during a 1-year period (September 1999 through August 2000) were included in this study. The fetal age at diagnosis, pre- and postnatal diagnoses, antenatal course, and neonatal outcome were obtained from the parents, through chart reviews, and through telephone interviews with the treating obstetricians.
Twenty-nine patients with vascular anomalies were identified: 17 had a correct prenatal diagnosis, and 12 had an incorrect diagnosis, an overall diagnostic accuracy of 59%. Capillary-lymphatic-venous malformations (CLVM) most often were correctly diagnosed (67%), followed by lymphatic malformation (LM, 62%) and hemangioma (59%). In the infants who received correct diagnoses in utero, there were no fetal deaths and there was no neonatal morbidity. Maternal steroids were administered for a fetus with an intrahepatic hemangioma and deteriorating cardiac function, with subsequent stabilization and successful delivery of a healthy neonate. Among infants with incorrect diagnoses, there was 1 postnatal death, 1 case of erroneous gender assignment, 1 case of unnecessary fetal surgical intervention, 1 unnecessary neonatal laparotomy, and 1 delay in diagnosis of a malignancy. Cesarean section was done for 65% of correctly diagnosed cases, (including 2 ex utero intrapartum [Exit] procedures) and for 33% of incorrectly diagnosed cases. Most diagnoses were made during the mid- to late second trimester and third trimester; only 4 cases (14%) were detected before 20 weeks.
In this series, accurate diagnosis optimized antenatal care by providing an opportunity for planning deliveries, for pharmacologic fetal intervention in 1 case, and for appropriate parental counselling. Inaccurate diagnosis was associated with significantly increased morbidity and mortality. Finally, the intrauterine diagnosis of LM should be distinguished from posterior nuchal translucency, an obstetric term applied to fetal lymphatic abnormalities detected in the first and second trimesters that do not manifest as postnatal LM.
背景/目的：血管异常在产前诊断中的频率日益增加。作者回顾了一组在其中心接受治疗的儿童，这些儿童产前诊断异常，以确定（1）检测到血管异常时的胎龄，（2）总体诊断准确性，以及（3）对产前和产后护理的影响。他们的研究结果与已报道的病例和系列进行了比较。作者阐明了适当的术语，并强调了血管异常领域专家跨学科参与的必要性。
本研究纳入了在产前转诊的患者以及在1年期间（1999年9月至2000年8月）在我们血管异常中心就诊且有产前异常发现史的儿童。从父母处、通过病历审查以及与治疗产科医生的电话访谈中获取诊断时的胎龄、产前和产后诊断、产前过程以及新生儿结局。
共确定了29例血管异常患者：17例产前诊断正确，12例诊断错误，总体诊断准确率为59%。毛细血管-淋巴管-静脉畸形（CLVM）最常被正确诊断（67%），其次是淋巴管畸形（LM，62%）和血管瘤（59%）。在子宫内诊断正确的婴儿中，没有胎儿死亡，也没有新生儿发病。对一名患有肝内血管瘤且心脏功能恶化的胎儿给予了母体类固醇治疗，随后病情稳定，成功分娩出一名健康新生儿。在诊断错误的婴儿中，有1例产后死亡、1例性别错误分配、1例不必要的胎儿手术干预、1例不必要的新生儿剖腹手术以及1例恶性肿瘤诊断延迟。65%的正确诊断病例进行了剖宫产（包括2例子宫外产时处理[EXIT]手术），33%的诊断错误病例进行了剖宫产。大多数诊断在孕中期至晚期和孕晚期做出；只有4例（14%）在20周前被检测到。
在本系列研究中，准确诊断通过提供计划分娩的机会、对1例进行药物性胎儿干预以及进行适当的家长咨询，优化了产前护理。诊断不准确与发病率和死亡率显著增加相关。最后，子宫内LM的诊断应与后颈部透明带区分开来，后颈部透明带是一个产科术语，用于描述在孕早期和孕中期检测到的胎儿淋巴异常，但出生后不会表现为LM。
