Evaluation of Non-Immune Fetal Hydrops in Resource Poor Country: Challenges Faced in Ascertaining the Etiology.

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-05-08 DOI:10.1002/pd.6813
Mamatha Gowda, Avantika Gupta, H V Shreyanka, Tejus Avardal, T P Aishwarya, A Murugesan, Chetan Khare
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Abstract

Objective: Analyze the proportion of cases of non-immune hydrops fetalis (NIHF), where etiology could be ascertained using limited tests and determine outcome.

Method: 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.

Results: 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.

Conclusion: 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.

资源贫乏国家非免疫胎儿水肿的评估:确定病因所面临的挑战。
目的:分析非免疫性积水胎儿(NIHF)的比例,通过有限的检查可以确定病因并确定预后。方法:回顾性观察2014 - 2023年10年间印度某三级转诊中心产前诊断NIHF的病例资料、超声资料和调查报告。结果:166例患者中184例NIHF事件,估计患病率为0.11%(184/ 160156例分娩)。42.5%的女性为原发,12例患者中有30例出现复发性积液。154例新发积液患者中有76例(49.35%)和12例复发性NIHF患者中有9例(75%)可以确定病因。首次NIHF最常见的原因是结构异常和非整倍体,而先天性代谢错误(IEM)在复发病例中最常见。超声单独诊断率为30.7%(51/166例),细胞遗传学和测序研究分别提高到45.78%(76/166例)和53.6%(89/166例)。出生后28天以上的总生存率为9.2%(17/184),其余为MTP/自然流产47.8%(88/184),死胎24.5%(45/184),新生儿早期死亡17.4%(32/184),新生儿晚期死亡1.1%(2/184)。可治疗的原因包括胎儿心律失常,一些结构异常和某些可通过产后早期饮食干预的IEMs。结论:虽然NIHF患者的总生存率较低,但诊断检查的目的应是找到可治疗的病因。即使资源有限,仍然可以在一半以上的病例中推断出病因。通常可以根据病史和超声检查做出管理决策,而将昂贵的基因检测限制在无法解释或复发的病例中。
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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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