Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings-Is There a Place for MRI in the Diagnostic Process?

Adelina Staicu; Roxana Popa-Stanila; Camelia Albu; Alexandra Chira; Roxana Constantin; Dan Boitor-Borza; Mihai Surcel; Ioana Cristina Rotar; Gheorghe Cruciat; Daniel Muresan

doi:10.3390/jcm12072679

Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings-Is There a Place for MRI in the Diagnostic Process?

J Clin Med. 2023 Apr 3;12(7):2679. doi: 10.3390/jcm12072679.

Authors

Adelina Staicu^{1

2}, Roxana Popa-Stanila^{3

4}, Camelia Albu^{4

5}, Alexandra Chira^{6

7}, Roxana Constantin², Dan Boitor-Borza^{1

2}, Mihai Surcel^{1

2}, Ioana Cristina Rotar^{1

2}, Gheorghe Cruciat^{1

2}, Daniel Muresan^{1

2}

Affiliations

¹ 1st Department of Obstetrics and Gynecology, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
² 1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania.
³ Department of Radiology, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
⁴ Centre of Advanced Research Studies, Emergency County Hospital, IMOGEN, 400006 Cluj-Napoca, Romania.
⁵ Department of Pathology, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
⁶ Department of Internal Medicine, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
⁷ 2nd Medical Clinic, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania.

Abstract

Neonatal hemochromatosis (NH) is an uncommon, severe disorder that results in fetal loss or neonatal death due to liver failure. NH is currently regarded as the phenotypic expression of gestational alloimmune liver disease (GALD). The diagnosis of NH-GALD is rarely prenatally established. In addition to providing a systematic review of the prenatal features that are identifiable using ultrasound (US) and MRI, we suggest a prenatal diagnosis algorithm for use in suspected NH during the first affected pregnancy. From a total of 586 database entries identified in PubMed, Google Scholar, and ResearchGate, we selected 18 studies published from 1993 to 2021 that reported maternal medical and obstetric history, prenatal ultrasound findings, and postpartum outcomes. We investigated the ultrasound and MRI features of these studies, along with the outcome due to this condition. A total of 74 cases were identified. The main reported prenatal US finding was fetal growth restriction (FGR) (33%), followed by oligohydramnios (13%) and hydrops fetalis (13%), with 13% cases described as uneventful. Other rare prenatal findings were fetal anemia, ascites, and abnormal fetal liver and spleen. Most pregnancies ended with fetal/perinatal death or therapeutic interruption of pregnancy. Favorable evolution with treatment (ensanguine transfusion and intravenous immunoglobulin (IVIG)) was reported for only 7% of fetuses. Using T2-weighted MRI, fetal extrahepatic siderosis confirmed prenatally in two cases and postnatally in 11 cases. IVIG treatment throughout subsequent pregnancies was found to significantly improve fetal prognosis. MRI should be indicated in selected cases of oligohydramnios, fetal hydrops, fetal hepatomegaly, ascites, or unexplained FGR or anemia after ruling out all other more frequently encountered conditions. MRI can be used to detect iron overload in the liver and extrahepatic siderosis.

Keywords: gestational alloimmune liver disease; hemochromatosis; iron; liver failure; magnetic resonance imaging; prenatal; siderosis.

Publication types

Review

Grants and funding

The authors would like to thank “Iuliu Hațieganu” University of Medicine and Pharmacy Research for grant no. 35.166/17.12.2022 received by A.S. The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors received no specific funding for this work.