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Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
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Fetal Splenomegaly: A Review.

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Prenatal splenomegaly, or enlarged fetal spleen, can indicate underlying systemic diseases. This case highlights familial hemophagocytic lymphohistiocytosis (HLH) as a rare but critical cause, emphasizing the need for thorough postnatal investigation.

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Area of Science:

  • Perinatology
  • Pediatric Hematology
  • Immunology

Background:

  • Fetal splenomegaly is often secondary to systemic conditions, with infections being the most common cause.
  • Other potential etiologies include hemolytic anemia, cardiac failure, metabolic disorders, and rarely, hematologic malignancies or histiocytosis.

Observation:

  • A case of prenatal splenomegaly was diagnosed at 35 weeks gestation.
  • The condition was confirmed postnatally in the newborn infant.

Findings:

  • Postnatal investigations revealed the infant had familial type 3 hemophagocytic lymphohistiocytosis (HLH).
  • Hemophagocytic lymphohistiocytosis is a severe syndrome characterized by uncontrolled immune activation.
  • The hereditary forms of HLH follow an autosomal recessive inheritance pattern.

Implications:

  • Prenatal splenomegaly warrants comprehensive evaluation to rule out serious underlying conditions like HLH.
  • Early diagnosis and management of HLH are crucial due to its life-threatening nature.
  • Understanding the genetic basis of familial HLH aids in genetic counseling and family screening.