Nonimmune Fetal Anemia: Exploring the Unfathomed! Case Series and Review of Literature

Abstract

Background: To discuss a series of complex non-immune fetal anemia cases, including etiology, investigations, workup, diagnosis, and management. Materials and methods: Five complex non-immune cases of fetal anemia seen in our department are presented. Results: Of the five cases presented, all are live births with follow-up least up to 1.5 years of age. They are cases of hereditary spherocytosis, congenital dyserythropoietic anemia, MCDA twins-twin-twin transfusion syndrome (TTTS) post-laser co-twin demise-fetal anemia, placental chorioangioma, and massive fetomaternal hemorrhage. Conclusion: Non-immune causes of fetal anemia can be difficult to diagnose its etiology and hence complex to manage. Repeated intrauterine transfusions may be the only perinatal management. The perinatal morbidity/mortality and preterm delivery rates are increased, and some cases require long-term treatment including regular transfusions. We present our experience of a series of complex non-immune fetal anemia managed in a tertiary unit, review the literature, and suggest appropriate management.

Homozygous SPTA1‐associated hereditary pyropoikilocytosis presenting as hydrops fetalis

“…To our knowledge, this is the first report that correlates genotype with RBC dysmorphology and establishes the diagnosis of HPP. Amish‐Mennonite ancestry was identified in 3 of 4 cases, 9,12 including the current patient, and unspecified in one case 13 . Consanguinity was noted in every case but one 12 .…”

“…Three prior cases of fetal anemia due to homozygosity for the SPTA1c.6154delG variant have been published, all of which refer to the associated membranopathy as autosomal recessive HS 9,12,13 . This discrepancy might suggest a degree of phenotypic variability associated with this SPTA1 variant, although the peripheral smears in these cases were not available to review.…”