Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment

Chainarong, Natthicha; Muangpaisarn, Worachot; Suwanrath, Chitkasaem

doi:10.1038/s41372-021-01202-7

Cited by 5 publications

(6 citation statements)

References 23 publications

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“…The carriers of the gene are very common, especially in Southeast Asia, where the prevalence of alpha‐thalassemia‐1 carriers among pregnant women is as high as 6.6% 2 . Consequently, Hb Bart’s disease is the most common cause of hydrops fetalis in Asia, 3 especially in Thailand 4 . The disease is usually lethal, hydropic or causes stillbirth.…”

Section: Introductionmentioning

confidence: 99%

“…2 Consequently, Hb Bart's disease is the most common cause of hydrops fetalis in Asia, 3 especially in Thailand. 4 The disease is usually lethal, hydropic or causes stillbirth. In the case of continuing pregnancy, the affected pregnancy is often associated with an increased risk of several serious complications, such as (i) preeclampsia, usually earlier-occurring and more severe, seen in nearly all cases in late gestation; (ii) dystocia due to large hydropic baby; (iii) postpartum hemorrhage due to huge placenta; and (iv) psychic trauma of carrying a non-surviving fetus to term.To date, an effective management strategy to control the disease is early prenatal diagnosis (chorionic villus sampling: CVS, amniocentesis or cordocentesis) and termination of the affected pregnancies.…”

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confidence: 99%

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Effectiveness of ultrasound algorithm in prenatal diagnosis of hemoglobin Bart’s disease among pregnancies at risk

Harn-a-morn

Wanapirak

Sirichotiyakul

et al. 2022

Intl J Gynecology & Obste

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Objective To evaluate the effectiveness of ultrasound algorithm in diagnosis of fetal Hb Bart’s disease among pregnancies at risk. Methods Pregnancies at risk underwent ultrasound for the first time at 12–14 weeks of gestation and serial ultrasound every 2–4 weeks until 24 weeks to identify pre‐hydropic signs. The invasive procedure was omitted in case of no pre‐hydropic signs. Results A total of 237 fetuses were recruited, including 53 affected and 184 unaffected fetuses. The algorithm has a sensitivity of 100% in the detection of fetal Hb Bart’s disease with a false positive rate of 10.9%. Of the affected group, the mean gestational age at the time of diagnosis was 15.5 ± 2.6 week. 30.8% of all pregnancies at risk underwent invasive procedures. The algorithm had a 70% reduction in the rate of invasive procedures among pregnancies at risk without missing the affected cases. Conclusions The algorithm is highly effective in the early detection of fetal Hb Bart’s disease with a detection rate of 100%, and invasive diagnosis can be avoided in about 70% of cases. Thus, this algorithm should be used as a guideline for prenatal diagnosis of fetal Hb Bart’s disease, especially in geographical areas of high prevalence.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

Effectiveness of ultrasound algorithm in prenatal diagnosis of hemoglobin Bart’s disease among pregnancies at risk

Harn-a-morn

Wanapirak

Sirichotiyakul

et al. 2022

Intl J Gynecology & Obste

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“…For example, in a recent review of 122 cases of nonimmune hydrops fetalis from Thailand, hematologic etiologies predominated at 38.5% mostly due to regional incidence of alpha thalassemia. 22 Cardiovascular diseases, including structural heart defects, cardiomyopathies, arrhythmias, and arteriovenous malformations (AVM), are largely believed to result in hydrops fetalis secondary to increased central venous or hydrostatic pressure. 3,23 This can occur in the context of high or low cardiac output.…”

Section: Dovepressmentioning

confidence: 99%

“…Decision to terminate pregnancy in countries where abortion is accessible is common (40 to 50% of affected fetuses). 22,42,69 As a comparison, in a cohort of 53 cases of nonimmune hydrops fetalis referred to a perinatal genetics program in Brazil, 4 pregnancies (7.5%) were legally permitted to be electively terminated. 70 Numerous factors contribute to prognosis for infants born in the setting of hydrops fetalis.…”

Section: Postnatal Managementmentioning

confidence: 99%

“…Earlier diagnosis (before 24 weeks gestation) has been associated with chromosomal abnormalities. 22,42 In turn, earlier gestation at presentation has been associated with perinatal mortality. 58,[71][72][73] However, this may be more related to the high mortality associated with aneuploidy rather than an indication of the severity of hydrops fetalis.…”

Section: Postnatal Managementmentioning

confidence: 99%

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Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes

Younge,

Ottolini,

Al-Kouatly

et al. 2023

RRN

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Hydrops fetalis describes a pathologic over accumulation of fluid affecting multiple organs of the fetus or neonate. It is a rare condition with numerous etiologies, including many rare diseases. Causes of hydrops fetalis vary regionally based on prevalence of inheritable conditions and availability of RhD immune globulin to prevent immune hydrops fetalis. In some instances, the etiology remains unknown despite extensive evaluation. Overall, the prognosis is extremely poor, but it is also extremely variable and full recovery is possible. Prenatal management includes evaluation to determine etiology, which can provide prognostic value for counseling and medical decision-making. Diagnostic work-up often includes genetic testing with increasing evidence supporting the use of exome sequencing. Depending on the etiology, targeted therapies may be available or in development. Postnatal management emphasizes supportive care as diagnostic work-up continues. Perinatal palliative care plays an essential role for families affected by this challenging condition.

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Prenatal Management and Perinatal Outcome in a Large Series of Hydrops Fetalis

Sebastián de Lucas,

Ordás Álvarez,

de Castro Marzo

et al. 2024

Fetal Diagn Ther

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Introduction: Non-immune hydrops fetalis (NIHF) is the most frequent etiology of hydrops fetalis (HF), accounting for around 95% of cases. It associates high perinatal mortality and morbidity rates. The aim of the study was firstly, to investigate etiology, prenatal management, and perinatal outcome in a large single center series of HF; secondly, to identify prenatal prognostic factors with impact on perinatal outcome. Material and methods: Observational retrospective study of 80 HF diagnosed or referred to a single tertiary center between 2012 and 2021. Clinical characteristics, etiology, prenatal management, and perinatal outcome were recorded. Adverse perinatal outcome was defined as intrauterine fetal death (IUFD), early neonatal death (first 7 days of life) and late neonatal death (between 7 and 28 days). Results: Seventy-six of the 80 cases (95%) were NIHF, main etiology being genetic disorders (28/76; 36.8%). A total of 26 women (32.5%) opted for termination of pregnancy, all of them in the NIHF group. Intrauterine fetal death (IUFD) occurred in 24 of 54 patients (44.4%) who decided to continue the pregnancy. Intrauterine treatment was performed in 29 cases (53.7%). There were 30 newborns (55.6%). Adverse perinatal outcome rate was 53.7% (29/54), significantly higher in those diagnosed < 20 weeks of gestation (82.4% <20w vs. 40.5% ≥ 20w; p=0.004). Survival rate was higher when fetal therapy was performed compared to the expectantly managed group (58.6% vs. 32%; p=0.05). Intrauterine blood transfusion and thoraco-amniotic shunt were the procedures that achieved the highest survival rates (88.9% and 100% respectively, p=0.003). Conclusion: NIHF represented 95% of HF with genetic disorders as the main etiology. Most of them were diagnosed before 20 weeks of gestation, with worse prognosis than cases detected later in gestation. Rates of TOP, IUFD and early neonatal death were higher in NIHF. Intrauterine therapy when indicated, improved the perinatal outcome.

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Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment

Cited by 5 publications

References 23 publications

Effectiveness of ultrasound algorithm in prenatal diagnosis of hemoglobin Bart’s disease among pregnancies at risk

Effectiveness of ultrasound algorithm in prenatal diagnosis of hemoglobin Bart’s disease among pregnancies at risk

Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes

Prenatal Management and Perinatal Outcome in a Large Series of Hydrops Fetalis

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