Bellini Carlo, Hennekam Raoul C M, Fulcheri Ezio, Rutigliani Mariangela, Morcaldi Guido, Boccardo Francesco, Bonioli Eugenio
Department of Pediatrics, Neonatal Intensive Care Unit, Gaslini Institute, University of Genoa, Genova, Italy.
Am J Med Genet A. 2009 May;149A(5):844-51. doi: 10.1002/ajmg.a.32655.
Hydrops fetalis (HF) indicates excessive fluid accumulation within the fetal extravascular compartments and body cavities. HF is not a diagnosis in itself but a symptom, and the end-stage of a wide variety of disorders. In the era before routine immunization of Rhesus (Rh) negative mothers, most cases of hydrops were due to erythroblastosis from Rh alloimmunization, but nowadays, nonimmune hydrops fetalis (NIHF) is more frequent, representing 76-87% of all described HF cases. We performed a systematic review of the pertinent literature based on the QUality Of Reporting Of Meta-analyses (QUOROM) recommendations, using a QUOROM flowchart and QUOROM checklist. At initial screening 33,345 articles were retrieved. The various inclusion and exclusion criteria aimed at obtaining data that were as unbiased yet as complete as possible decreased the numbers dramatically, and eventually a total of 225 relevant NIHF articles were identified, describing 6,361 individuals. We established 14 different diagnostic categories and provide the pathophysiologic background of each, if known. All 6,361 patients were subclassified into one of the following diagnostic categories: Cardiovascular (21.7%), hematologic (10.4%), chromosomal (13.4%), syndromic (4.4%), lymphatic dysplasia (5.7%), inborn errors of metabolism (1.1%), infections (6.7%), thoracic (6.0%), urinary tract malformations (2.3%), extra thoracic tumors (0.7%), TTTF-placental (5.6%), gastrointestinal (0.5%), miscellaneous (3.7%), and idiopathic (17.8%).
胎儿水肿（HF）指胎儿血管外间隙和体腔内液体过度积聚。胎儿水肿本身并非一种诊断，而是一种症状，是多种疾病的终末期表现。在恒河猴（Rh）阴性母亲常规免疫之前的时代，大多数胎儿水肿病例是由Rh同种免疫引起的成红细胞增多症所致，但如今，非免疫性胎儿水肿（NIHF）更为常见，占所有已描述的胎儿水肿病例的76 - 87%。我们根据荟萃分析报告质量（QUOROM）建议，使用QUOROM流程图和QUOROM清单对相关文献进行了系统综述。在初步筛选时检索到33345篇文章。旨在获取尽可能无偏倚且完整数据的各种纳入和排除标准大幅减少了文章数量，最终共确定了225篇相关的非免疫性胎儿水肿文章，描述了6361例个体。我们建立了14种不同的诊断类别，并在已知的情况下提供每种类别的病理生理背景。所有6361例患者被归入以下诊断类别之一：心血管疾病（21.7%）、血液系统疾病（10.4%）、染色体疾病（13.4%）、综合征性疾病（4.4%）、淋巴发育异常（5.7%）、先天性代谢缺陷（1.1%）、感染（6.7%）、胸部疾病（6.0%）、泌尿系统畸形（2.3%）、胸外肿瘤（0.7%）、TTTF - 胎盘疾病（5.6%）、胃肠道疾病（0.5%）、其他（3.7%）和特发性疾病（17.8%）。
