Nonimmune Hydrops Fetalis—Prenatal Diagnosis Genetic Investigation Outcomes and Literature Review

摘要

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.