Kosinski Przemyslaw, Krajewski Pawel, Wielgos Miroslaw, Jezela-Stanek Aleksandra
1st Department of Obstetrics and Gynecology, Medical University of Warsaw, 02-015 Warsaw, Poland.
Neonatal Unit, 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, 02-015 Warsaw, Poland.
J Clin Med. 2020 Jun 8;9(6):1789. doi: 10.3390/jcm9061789.
The aim of this paper is to review the outcomes and discuss the genetic and non-genetic aetiology of nonimmune hydrops fetalis in order to support differential ultrasound and genetic evaluations and family counselling. This single-centre study includes all cases of nonimmune hydrops fetalis diagnosed prenatally from 2009 to 2019. Two sources of data were used for this study (prenatal and neonatal) to compare and summarise the findings. Data from genetic testing and ultrasound scans were collected. In total, 33 pregnant women with prenatally diagnosed nonimmune hydrops fetalis were studied. The data included 30 cases of singleton (91%) and three cases (9%) of twin pregnancies. There were 14 survivors (43%), seven cases of postnatal deaths (21%), four cases of intrauterine foetal demises (12%), four cases of termination of pregnancy (12%), and four women without a follow up (12%). The total number of chromosomally normal singleton pregnancies was 29 (88%), and 14 foetuses had an anatomical abnormality detected on the ultrasound scan. The chance of survival was the highest in cases of isolated, idiopathic hydrops fetalis, which in most cases was due to an undetectable intrauterine infection. In many cases, the diagnosis could not be established throughout pregnancy. Each case of nonimmune hydrops fetalis should thus be analysed individually.
本文旨在回顾相关结果，并讨论非免疫性胎儿水肿的遗传和非遗传病因，以支持超声鉴别诊断、基因评估及遗传咨询。这项单中心研究纳入了2009年至2019年期间产前诊断的所有非免疫性胎儿水肿病例。本研究使用了两个数据来源（产前和新生儿期）来比较和总结研究结果。收集了基因检测和超声扫描的数据。总共对33例产前诊断为非免疫性胎儿水肿的孕妇进行了研究。数据包括30例单胎妊娠（91%）和3例双胎妊娠（9%）。有14例存活（43%），7例产后死亡（21%），4例宫内胎儿死亡（12%），4例终止妊娠（12%），4名女性未进行随访（12%）。染色体正常的单胎妊娠总数为29例（88%），14例胎儿在超声扫描中检测到解剖结构异常。孤立性特发性胎儿水肿病例的存活几率最高，在大多数情况下，这是由于无法检测到的宫内感染所致。在许多情况下，整个孕期都无法确诊。因此，每例非免疫性胎儿水肿都应单独进行分析。
