EP06.27: Dehydrated hereditary stomatocytosis: to be considered as a possible cause for non‐immune fetal hydrops associated with fetal anemia

We present two cases of non-immune fetal hydrops associated with fetal anemia. Both cases had normal PCR and MIcroarray results, however after whole exome sequencing a dehydrated hereditary stomatocytosis (DHS) was diagnosed.(PIEZ01 on the chromosome 16q24.3). This is an autosomal dominant gene mutation causing severe hemolytic anemia in fetus. An intrauterine transfusion is not usually improving the hydrops as the anemia is not severe and not a determinant cause for hydrops. However after delivery this hydrops usually resolves with supportive treatment only. We recommend the DHS to be included on the list of possible causes for non-immune fetal hydrops associated with fetal anemia, alongside parvovirus infection and other less common conditions.

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Publication Details

Journal
Ultrasound in Obstetrics and Gynecology
Published
2024-09-01
DOI
https://doi.org/10.1002/uog.28199
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
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article

EP06.27: Dehydrated hereditary stomatocytosis: to be considered as a possible cause for non‐immune fetal hydrops associated with fetal anemia

B.B. Heim, L. Giurcaneanu
Ultrasound in Obstetrics and Gynecology
Erythrocyte Function and Pathophysiology
article

EP06.27: Dehydrated hereditary stomatocytosis: to be considered as a possible cause for non‐immune fetal hydrops associated with fetal anemia

B.B. Heim, L. Giurcaneanu
article en

Abstract

We present two cases of non-immune fetal hydrops associated with fetal anemia. Both cases had normal PCR and MIcroarray results, however after whole exome sequencing a dehydrated hereditary stomatocytosis (DHS) was diagnosed.(PIEZ01 on the chromosome 16q24.3). This is an autosomal dominant gene mutation causing severe hemolytic anemia in fetus. An intrauterine transfusion is not usually improving the hydrops as the anemia is not severe and not a determinant cause for hydrops. However after delivery this hydrops usually resolves with supportive treatment only. We recommend the DHS to be included on the list of possible causes for non-immune fetal hydrops associated with fetal anemia, alongside parvovirus infection and other less common conditions.

Ultrasound in Obstetrics and GynecologyVol. 64(S1)
University of Dundee (GB), University Hospital Coventry (GB)
Zero hunger
Openalex Percentile: Top 80%
Erythrocyte Function and Pathophysiology
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