Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
Ultrasound Obstet Gynecol. 2024 Apr;63(4):536-543. doi: 10.1002/uog.27501.
Non-immune hydrops fetalis (NIHF) is the pathological accumulation of fluids in fetal compartments, without maternal isoimmunization. Fetal interventions (e.g. shunting, fetal paracentesis, fetal thoracocentesis, fetal pleurodesis) are used to alleviate fluid accumulations, but the outcome is uncertain because the underlying causes of NIHF vary. We aimed to explore the etiology and long-term outcome of NIHF after fetal intervention.
This was a retrospective review of fetuses with NIHF, defined by the presence of fetal ascites, pleural or pericardial effusion, skin edema or cystic hygroma, or a combination of these features, who underwent intervention at our institution during the period 2012-2021. Clinical surveillance, genetic analysis and viral infection screening were used to define the etiology. Chart reviews and telephone interviews were conducted to assess the long-term outcomes.
In total, 55 fetuses were enrolled and 46 cases had final follow-up data after delivery. Etiology was identified in 33 cases, including four for which the underlying causes were not identified initially using small-gene-panel tests but which were later diagnosed with monogenic disorders by whole-exome sequencing (WES). Twenty-three cases with follow-up survived, having a follow-up period of 2-11 years at the time of writing, of which 17 were healthy. All 11 cases initially presenting as congenital chylothorax survived with favorable outcome.
The etiologies of NIHF are heterogeneous, and the long-term (spanning 2-11 years) outcome of fetal intervention varies, according to the underlying etiology, with cases caused by congenital chylothorax having the best prognosis. Genome-wide tests, such as WES, may be helpful in determining the underlying condition in cases caused by a genetic disorder, and this may affect fetal therapy approaches in the future. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
非免疫性胎儿水肿（NIHF）是指胎儿各腔室液体异常积聚，而不存在母体同种免疫。胎儿干预（如分流、胎儿穿刺、胎儿胸腔穿刺、胎儿胸膜固定术）用于缓解液体积聚，但由于 NIHF 的潜在病因不同，其结局尚不确定。本研究旨在探讨胎儿干预后 NIHF 的病因和长期结局。
本研究回顾性分析了 2012 年至 2021 年期间在我院接受干预的 NIHF 胎儿的临床资料。NIHF 定义为存在胎儿腹水、胸腔或心包积液、皮肤水肿或囊状水瘤，或存在上述特征中的两种或以上。通过临床监测、基因分析和病毒感染筛查来明确病因。通过病历回顾和电话访谈来评估长期结局。
共纳入 55 例胎儿，其中 46 例在分娩后获得了最终随访数据。33 例确定了病因，其中 4 例最初使用小基因panel 检测未明确病因，但随后通过全外显子测序（WES）诊断为单基因疾病。23 例有随访结果的患儿存活，随访时间为 2-11 年，其中 17 例健康。所有 11 例初诊为先天性乳糜胸的患儿均存活，预后良好。
NIHF 的病因具有异质性，胎儿干预的长期（2-11 年）结局也各不相同，其结局取决于潜在病因，由先天性乳糜胸引起的 NIHF 预后最好。全基因组检测（如 WES）有助于确定由遗传疾病引起的 NIHF 的潜在病因，这可能会影响未来的胎儿治疗方法。 © 2023 年国际妇产科超声学会。
