Taiwanese journal of obstetrics & gynecology · 2026
Third trimester hydrops fetalis as the presentation leads to prenatal diagnosis of familial hemophagocytic lymphohistiocytosis.
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Chen Fang, Li Dong-Zhi
Аннотация
OBJECTIVE: We first report a case of familial hemophagocytic lymphohistiocytosis (FHL) diagnosed in utero due to third trimester hydrops fetalis.
CASE REPORT: A 28-year-old G1P0 woman had a normal nuchal translucency scan and 2 second trimester ultrasounds at 18 and 24 weeks. The third trimester ultrasound at 30 weeks showed mild polyhydramnios. The follow-up ultrasound at 32 weeks showed features of hydrops fetalis with pleural effusions, ascites, skin edema and polyhydramnios. Fetal blood sampling via cordocentesis showed a mild anemia (hemoglobin-100 g/L), thrombocytopenia (platelets-12×109/L) and normal white blood cell counts (9.7×109/L). Exome sequencing (ES) detected a novel homozygous pathogenic frameshift variant c.65del, p(Pro22ArgfsTer29) in PRF1 with biparental inheritance. Biallelic pathogenic variants in PRF1 are associated with FHL.
CONCLUSION: This case indicates that third trimester hydrops fetalis with fetal anemia and thrombocytopenia are the diagnostic clue to the FHL. The use of prenatal ES can achieve a definite diagnosis.
CASE REPORT: A 28-year-old G1P0 woman had a normal nuchal translucency scan and 2 second trimester ultrasounds at 18 and 24 weeks. The third trimester ultrasound at 30 weeks showed mild polyhydramnios. The follow-up ultrasound at 32 weeks showed features of hydrops fetalis with pleural effusions, ascites, skin edema and polyhydramnios. Fetal blood sampling via cordocentesis showed a mild anemia (hemoglobin-100 g/L), thrombocytopenia (platelets-12×109/L) and normal white blood cell counts (9.7×109/L). Exome sequencing (ES) detected a novel homozygous pathogenic frameshift variant c.65del, p(Pro22ArgfsTer29) in PRF1 with biparental inheritance. Biallelic pathogenic variants in PRF1 are associated with FHL.
CONCLUSION: This case indicates that third trimester hydrops fetalis with fetal anemia and thrombocytopenia are the diagnostic clue to the FHL. The use of prenatal ES can achieve a definite diagnosis.