Dehydrated hereditary stomatocytosis: a cause of prenatal ascites

Prenat Diagn. 2001 Dec;21(13):1114-8.


Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia. We observed that some patients had presented with different prenatal or perinatal forms of edema in some kindreds. Within weeks or months after birth, these exhibited a spontaneous, complete and definitive resorption. We assumed that some DHS patients, who were born without edema before ultrasound was available, might nonetheless have exhibited this during the prenatal period. The present report follows up the first pregnancy in a woman with overt DHS, but not herself having a known history of perinatal effusions. Ultrasound revealed that the fetus displayed ascites that disappeared prior to birth. The neonate had DHS. Prenatal edema must therefore be more frequent in DHS than known until now. DHS is another cause of prenatal edema to be considered in the differential diagnosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anemia, Hemolytic / blood
  • Anemia, Hemolytic / complications*
  • Anemia, Hemolytic / genetics*
  • Ascites / diagnostic imaging
  • Ascites / etiology*
  • Erythrocytes, Abnormal
  • Female
  • Fetal Diseases*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Pedigree
  • Pregnancy
  • Pregnancy Outcome
  • Ultrasonography, Prenatal