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Agnete Runge Jepsen1, Kristine Hamran2, Per Albertsen1

  • 1Børne- og Ungeafdelingen, Københavns Universitetshospital - Nordsjællands Hospital.

Ugeskrift for Laeger
|November 4, 2022
PubMed
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Congenital hydrops fetalis, fluid accumulation in fetuses, is classified as immune or non-immune. Genetic diagnostics are crucial for identifying causes and improving prognosis, especially for non-immune cases.

Area of Science:

  • Perinatology
  • Fetal Medicine
  • Genetics

Background:

  • Congenital hydrops fetalis involves abnormal fetal fluid accumulation in multiple compartments.
  • It is categorized into immune and non-immune etiological forms, with non-immune being more prevalent.
  • Postnatal management requires intensive care, with a significant portion of cases remaining idiopathic.

Approach:

  • This review discusses the diagnostic importance of genetic tools in identifying the etiology of hydrops fetalis.
  • It highlights the current understanding and management strategies for affected newborns.
  • Emphasis is placed on the etiological factors influencing prognosis.

Key Points:

  • Non-immune hydrops fetalis is the predominant form.
  • Genetic diagnostics play an increasingly vital role in identifying underlying causes.

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  • Prognosis is strongly correlated with etiology and gestational age at diagnosis and birth.

    • Conclusions:

    • Accurate etiological diagnosis, particularly through genetic analysis, is essential for managing congenital hydrops fetalis.
    • Understanding the cause impacts treatment strategies and patient outcomes.
    • Further research into idiopathic cases is warranted to improve diagnostic and therapeutic approaches.