Recommended Citation
Amin J, Mehra S, Mishra R. Management of Fetal Hereditary Xerocytosis. Presented at Scientific Day; May 20, 2026; Milwaukee, WI.
Abstract
Introduction/Background:
Hereditary xerocytosis (HX) is a rare autosomal dominant hemolytic anemia caused by red blood cell membrane ion channel dysfunction, leading to cellular dehydration and hemolysis. Prenatal presentations may include severe fetal anemia, ascites, hydrops of fetalis, and fetal demise. Due to the rarity of the condition, there is limited literature describing optimal prenatal surveillance and management strategies for affected fetuses.
Description:
A 33-year-old G2P1001 with a known diagnosis of HX and significant family history presented with fetal ascites. Given concern for fetal anemia, serial ultrasound surveillance with middle cerebral artery (MCA) Doppler assessment was initiated at 18w6d, demonstrating elevated velocities (1.41 MoM) and fetal hepatomegaly. Fetal echocardiography was performed every 2 weeks beginning at 22w6d. Progressive ascites and polyhydramnios necessitated serial fetal paracenteses and intraperitoneal transfusions starting at 26w2d. Combined ascites drainage and intraperitoneal transfusion of Onegative packed red blood cells was performed at 26w2d (105mL drained), 27w6d (90mL drained with IPT of 35mL O- blood), and 29w6d (105mL drained with IPT of 35mL O- blood). Despite ongoing fluid accumulation, fetal status remained stable with close surveillance. Planned delivery was undertaken at 36w1d, preceded by large-volume fetal paracentesis (410 mL), followed by uncomplicated cesarean delivery. Antenatal genetic testing by amniocentesis confirmed hereditary xerocytosis (PIEZO1 gene: c.7483_7488d). While in the NICU, the infant had stable anemia (Hb 7.5 g/dl) and mild jaundice (peak bilirubin 12.3 mg/dl). No blood transfusion was required for chronic anemia. The infant’s pediatrician visit at 10 months mentioned no developmental concerns.
Discussion:
This case demonstrates that early MCA Doppler surveillance and timely intervention with serial intraperitoneal transfusions and fetal paracenteses can stabilize fetal status and permit late-preterm delivery in pregnancies complicated by HX. Awareness of the maternal diagnosis enabled early screening and proactive management, likely mitigating progression to severe hydrops and fetal demise. This report contributes to the limited prenatal literature on HX and supports incorporation of early MCA Doppler screening and individualized intervention strategies in affected pregnancies. Further investigation is needed to define optimal surveillance intervals and intervention thresholds.
Presentation Notes
Presented at Scientific Day; May 20, 2026; Milwaukee, WI.
Full Text of Presentation
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Document Type
Poster
Open Access
Available to all.
Management of Fetal Hereditary Xerocytosis
Introduction/Background:
Hereditary xerocytosis (HX) is a rare autosomal dominant hemolytic anemia caused by red blood cell membrane ion channel dysfunction, leading to cellular dehydration and hemolysis. Prenatal presentations may include severe fetal anemia, ascites, hydrops of fetalis, and fetal demise. Due to the rarity of the condition, there is limited literature describing optimal prenatal surveillance and management strategies for affected fetuses.
Description:
A 33-year-old G2P1001 with a known diagnosis of HX and significant family history presented with fetal ascites. Given concern for fetal anemia, serial ultrasound surveillance with middle cerebral artery (MCA) Doppler assessment was initiated at 18w6d, demonstrating elevated velocities (1.41 MoM) and fetal hepatomegaly. Fetal echocardiography was performed every 2 weeks beginning at 22w6d. Progressive ascites and polyhydramnios necessitated serial fetal paracenteses and intraperitoneal transfusions starting at 26w2d. Combined ascites drainage and intraperitoneal transfusion of Onegative packed red blood cells was performed at 26w2d (105mL drained), 27w6d (90mL drained with IPT of 35mL O- blood), and 29w6d (105mL drained with IPT of 35mL O- blood). Despite ongoing fluid accumulation, fetal status remained stable with close surveillance. Planned delivery was undertaken at 36w1d, preceded by large-volume fetal paracentesis (410 mL), followed by uncomplicated cesarean delivery. Antenatal genetic testing by amniocentesis confirmed hereditary xerocytosis (PIEZO1 gene: c.7483_7488d). While in the NICU, the infant had stable anemia (Hb 7.5 g/dl) and mild jaundice (peak bilirubin 12.3 mg/dl). No blood transfusion was required for chronic anemia. The infant’s pediatrician visit at 10 months mentioned no developmental concerns.
Discussion:
This case demonstrates that early MCA Doppler surveillance and timely intervention with serial intraperitoneal transfusions and fetal paracenteses can stabilize fetal status and permit late-preterm delivery in pregnancies complicated by HX. Awareness of the maternal diagnosis enabled early screening and proactive management, likely mitigating progression to severe hydrops and fetal demise. This report contributes to the limited prenatal literature on HX and supports incorporation of early MCA Doppler screening and individualized intervention strategies in affected pregnancies. Further investigation is needed to define optimal surveillance intervals and intervention thresholds.
Affiliations
Advocate Illinois Masonic Medical Center, Advocate Lutheran General Hospital