Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jun 25.
doi: 10.1002/pd.6630. Online ahead of print.

Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature

Pierre-Louis Forey  1 , Maud Favier  2   3 , Claire Beneteau  3   4 , Sophie Berenguer  3   5 , Lydie Da Costa  6 , Virginie Guigue  1 , Philippe Loget  3   7 , Julia Torrents  3   8 , Laura Samaison  9 , Didier Riethmuller  1 , Sophie Collardeau-Frachon  2   3
Affiliations

Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature

Pierre-Louis Forey et al. Prenat Diagn. .

Abstract

Introduction: Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound and fetopathological findings that should lead to a suspicion of this diagnosis, as well as the investigations required to confirm it.

Methods: A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.

Results: We collected seven cases: four in utero fetal deaths, two neonatal deaths and one termination of pregnancy. Prenatal ultrasounds showed fetal hydrops (42.9%) associated with hepatosplenomegaly (100%). In addition, post-mortem examination (n = 6) suggested a Down syndrome in one case and showed other organomegaly (83.3%) due to blastic infiltration, mainly in the liver, along with extrahepatic multivisceral hematopoiesis. Immunostainings allowed to specify the type of leukemia (71.4%). In one case, diagnosis was made on blood smear and flow cytometry was performed on fresh blood samples. All cases corresponded to acute myeloid leukemia. Karyotype was abnormal in 4 cases (66.7%), including one free trisomy 21, two mosaic trisomy 21 and one chromosome 15 deletion. GATA1 gene mutations were identified in two cases: one mosaic trisomy 21 and one with normal karyotype.

Conclusion: Any hepatosplenomegaly associated with fetal hydrops and a negative immune, infectious, and metabolic work-up, should suggest acute fetal leukemia and prompt additional investigations.

PubMed Disclaimer

References

REFERENCES

    1. Kar A, Hijiya N. Diagnosis and initial management of pediatric acute leukemia in the emergency department setting. Clin Pediatr Emerg Med. 2018;19(2):135‐144. https://doi.org/10.1016/j.cpem.2018.05.003
    1. Fouché C, Ramos A, Esperandieu O, Briault S, Martin J.‐G, Desroches A. Fetal hepatosplenomegaly in the third trimester: a sign of leukemia in fetuses with Down syndrome. J Gynecol Obstet Biol Reprod. 2010;39(8):667‐671. https://doi.org/10.1016/j.jgyn.2010.06.002
    1. Kim GJ, Lee ES. Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus. Korean J Radiol. 2009;10(2):190‐193. https://doi.org/10.3348/kjr.2009.10.2.190
    1. Robertson M, De Jong G, Mansvelt E. Prenatal diagnosis of congenital leukemia in a fetus at 25 weeks’ gestation with Down syndrome: case report and review of the literature. Ultrasound Obstet Gynecol. 2003;21(5):486‐489. https://doi.org/10.1002/uog.87
    1. Sato Y, Izumi Y, Minegishi K, et al. Prenatal findings in congenital leukemia: a case report. Fetal Diagn Ther. 2011;29(4):325‐330. https://doi.org/10.1159/000323582

LinkOut - more resources