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

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.

Ultrasonographic Prenatal Diagnosis: Unveiling the Path to Improved Antenatal Care

“…One of the most significant contributions of ultrasonographic prenatal diagnosis is its ability to detect congenital anomalies at an early stage. Through meticulous examination, anomalies such as neural tube defects, heart malformations, abdominal wall defects, and skeletal abnormalities can be identified, allowing healthcare providers to prepare for potential interventions and coordinate appropriate medical care [ 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. This proactive approach aids in optimizing treatment plans, minimizing postnatal complications, and providing crucial support to parents in understanding and planning for their child’s healthcare needs.…”