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.
Authors
- B.B. Heim
- L. Giurcaneanu
Institutions
- University of Dundee (GB)
- University Hospital Coventry (GB)
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
- Field-Weighted Citation Impact
- 0.00