Gowda Mamatha, Gupta Avantika, Shreyanka H V, Avardal Tejus, Aishwarya T P, Murugesan A, Khare Chetan
Department of Obstetrics and Gynaecology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.
Department of Neonatology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.
Prenat Diagn. 2025 Jun;45(7):939-950. doi: 10.1002/pd.6813. Epub 2025 May 8.
Analyze the proportion of cases of non-immune hydrops fetalis (NIHF), where etiology could be ascertained using limited tests and determine outcome.
A retrospective observational study of prenatally diagnosed NIHF at a tertiary referral center in India over 10 years from 2014 to 2023 using the data retrieved from case files, ultrasound and investigation reports.
Included 184 NIHF events in 166 patients with an estimated prevalence of 0.11% (184/160,156 deliveries). 42.5% of women were primigravida and 30 cases were in 12 patients presenting with recurrent hydrops. Etiology could be ascertained in 76/154 (49.35%) total new cases of hydrops presenting for the first time and in 9/12 (75%) total patients with recurrent NIHF. The most common causes among first time NIHF were structural anomalies and aneuploidies, while inborn errors of metabolism (IEM) were the most common in recurrent cases. The diagnostic yield of ultrasound alone was 30.7% (51/166 patients), which improved with addition of tests to 45.78% (76/166) with cytogenetic and 53.6% (89/166) with sequencing studies. The overall survival beyond 28 days of postnatal life was 9.2% (17/184 events), with the rest ending in MTP/spontaneous abortion 47.8% (88/184), stillbirth 24.5% (45/184), early neonatal death 17.4% (32/184) and late neonatal death 1.1% (2/184). Treatable causes included fetal arrhythmias, some structural anomalies and certain IEMs amenable to early postnatal dietary intervention.
Although overall survival in NIHF is poor, the aim of diagnostic workup should be to find a treatable cause. Even with limited resources, etiology can still be deduced in more than half of the cases. Management decisions can often be made based on history and ultrasonography while restricting the expensive genetic tests to unexplained or recurrent cases.
分析可通过有限检查确定病因的非免疫性胎儿水肿（NIHF）病例的比例，并确定其结局。
对2014年至2023年期间印度一家三级转诊中心产前诊断的NIHF进行回顾性观察研究，使用从病例档案、超声和检查报告中检索的数据。
纳入166例患者的184例NIHF事件，估计患病率为0.11%（184/160,156次分娩）。42.5%的女性为初产妇，12例复发性水肿患者中有30例。在首次出现水肿的154例新病例中，76例（49.35%）可确定病因，在复发性NIHF的12例患者中，9例（75%）可确定病因。首次NIHF中最常见的病因是结构异常和非整倍体，而复发性病例中最常见的是先天性代谢缺陷（IEM）。仅超声检查的诊断率为30.7%（51/166例患者），增加细胞遗传学检查后诊断率提高到45.78%（76/166），进行测序研究后诊断率提高到53.6%（89/166）。出生后28天以上的总体生存率为9.2%（17/184例事件），其余结局为中期引产/自然流产47.8%（88/184）、死产24.5%（45/184）、早期新生儿死亡17.4%（32/184）和晚期新生儿死亡1.1%（2/184）。可治疗的病因包括胎儿心律失常、一些结构异常和某些适合出生后早期饮食干预的IEM。
尽管NIHF的总体生存率较低，但诊断检查的目的应是找到可治疗的病因。即使资源有限，仍可在半数以上病例中推断出病因。通常可根据病史和超声检查做出管理决策，同时将昂贵的基因检测限制在无法解释或复发性病例中。
