{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T08:49:59Z","timestamp":1787993399639,"version":"build-2784847793"},"reference-count":75,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Iuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy Research","award":["35.166\/17.12.2022"],"award-info":[{"award-number":["35.166\/17.12.2022"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/jcm12072679","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T01:35:59Z","timestamp":1680572159000},"page":"2679","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings\u2014Is There a Place for MRI in the Diagnostic Process?"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3755-320X","authenticated-orcid":false,"given":"Adelina","family":"Staicu","sequence":"first","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxana","family":"Popa-Stanila","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Centre of Advanced Research Studies, Emergency County Hospital, IMOGEN, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camelia","family":"Albu","sequence":"additional","affiliation":[{"name":"Centre of Advanced Research Studies, Emergency County Hospital, IMOGEN, 400006 Cluj-Napoca, Romania"},{"name":"Department of Pathology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Chira","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"2nd Medical Clinic, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxana","family":"Constantin","sequence":"additional","affiliation":[{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6832-9898","authenticated-orcid":false,"given":"Dan","family":"Boitor-Borza","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihai","family":"Surcel","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7700-2384","authenticated-orcid":false,"given":"Ioana Cristina","family":"Rotar","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8162-4103","authenticated-orcid":false,"given":"Gheorghe","family":"Cruciat","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Muresan","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"1st Clinics of Obstetrics and Gynecology Cluj-Napoca, Emergency County Clinical Hospital, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.jceh.2013.10.004","article-title":"Neonatal hemochromatosis","volume":"3","author":"Feldman","year":"2013","journal-title":"J. Clin. Exp. Hepatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/hep.21129","article-title":"Fetal and infantile hemochromatosis","volume":"43","author":"Whitington","year":"2006","journal-title":"Hepatology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1002\/pd.4232","article-title":"Neonatal hemochromatosis: Management, outcome, and prevention","volume":"33","author":"Lopriore","year":"2013","journal-title":"Prenat. Diagn."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s00247-021-05008-9","article-title":"Magnetic resonance imaging of neonatal hemochromatosis","volume":"52","author":"Chavhan","year":"2022","journal-title":"Pediatr. Radiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/1824-7288-36-38","article-title":"Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21\u2014A case report","volume":"36","author":"Neil","year":"2010","journal-title":"Ital. J. Pediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1891\/0730-0832.37.5.271","article-title":"Gestational Alloimmune Liver Disease: A Case Study","volume":"37","author":"Kasko","year":"2018","journal-title":"Neonatal. Netw."},{"key":"ref_7","first-page":"325","article-title":"Gestational Alloimmune Liver Disease and Neonatal Hemochromatosis","volume":"32","author":"Whitington","year":"2012","journal-title":"Semin. Liver Dis."},{"key":"ref_8","first-page":"39","article-title":"A hemochromatosis similar disease in newborn","volume":"87","author":"Cottier","year":"1957","journal-title":"Schweiz. Med. Wochenschr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"E134","DOI":"10.1055\/s-0031-1281756","article-title":"Fetal Anemia of Unknown Cause\u2014A Diagnostic Challenge","volume":"32","author":"Amann","year":"1980","journal-title":"Ultraschall Der Med. Stuttg. Ger."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e102","DOI":"10.1055\/s-0041-1731311","article-title":"The Effect of Prenatal and Postnatal Treatment with Intravenous Immunoglobulin on Severity of Neonatal Hemochromatosis: The Tale of Two Brothers (Case Report)","volume":"11","author":"Ryan","year":"2021","journal-title":"AJP Rep."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"125","DOI":"10.32553\/ijmbs.v4i5.1152","article-title":"Neonatal hemochromatosis: A rare case report with consanguinity","volume":"4","author":"Mude","year":"2020","journal-title":"Int. J. Med. Biomed. Stud."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1159\/000501554","article-title":"Managing the Unusual Causes of Fetal Anemia","volume":"47","author":"Maisonneuve","year":"2020","journal-title":"Fetal Diagn. Ther."},{"key":"ref_14","first-page":"51","article-title":"A rare case of gastrointestinal bleeding: Neonatal hemochromatosis","volume":"66","author":"Zaharie","year":"2018","journal-title":"Obstetrica. Si Ginecologia."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/jcu.22653","article-title":"Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis","volume":"47","author":"Darouich","year":"2019","journal-title":"J. Clin. Ultrasound JCU"},{"key":"ref_16","first-page":"83","article-title":"Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: A case report","volume":"33","author":"Babor","year":"2013","journal-title":"J. Perinatol. Off. J. Calif. Perinat. Assoc."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.jogoh.2018.11.005","article-title":"Prenatal imaging features suggestive of liver gestational allo immune disease","volume":"48","author":"Sciard","year":"2019","journal-title":"J. Gynecol. Obstet. Hum. Reprod."},{"key":"ref_18","first-page":"7432859","article-title":"Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review","volume":"2017","author":"Kieling","year":"2017","journal-title":"Case Rep. Pediatr."},{"key":"ref_19","first-page":"88","article-title":"Diagn\u00f3stico Pr\u00e9natal de Hemocromatose Neonatal: Ser\u00e1 poss\u00edvel?","volume":"3","author":"Lopes","year":"2015","journal-title":"Case Rep."},{"key":"ref_20","first-page":"1417","article-title":"Neonatal hemochromatosis\u2014Medical treatment vs. transplantation: The king\u2019s experience","volume":"11","author":"Rodrigues","year":"2005","journal-title":"Liver Transplant. Off. Publ. Am. Assoc. Study Liver Dis. Int. Liver Transplant. Soc."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.jpeds.2014.09.030","article-title":"Neonatal Hemochromatosis: Diagnostic Work-Up Based on a Series of 56 Cases of Fetal Death and Neonatal Liver Failure","volume":"166","author":"Heissat","year":"2015","journal-title":"J. Pediatr."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1097\/MPG.0000000000000514","article-title":"Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neo-natal haemochromatosis","volume":"59","author":"Baruteau","year":"2014","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1111\/j.1447-0756.2011.01680.x","article-title":"Prenatal high-dose immunoglobulin treatment for neonatal hemochromatosis: A case report and review of the literature","volume":"37","author":"Tanaka","year":"2011","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_24","first-page":"455","article-title":"Neonatal hemochromatosis: A case report with unique presentation","volume":"53","author":"Cakir","year":"2011","journal-title":"Turk. J. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1515\/JPM.1999.016","article-title":"Familial perinatal hemochromatosis: A disease that causes recurrent non-immune hydrops","volume":"27","author":"Kassem","year":"1999","journal-title":"J. Perinat. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<391::AID-AJMG3>3.0.CO;2-P","article-title":"Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies","volume":"68","author":"Verloes","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000263839","article-title":"Neonatal hemochromatosis: A rare cause of nonimmune hydrops fetalis and fetal anemia","volume":"8","author":"Wisser","year":"1993","journal-title":"Fetal Diagn. Ther."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"450","DOI":"10.2350\/12-02-1155-OA.1","article-title":"French retrospective multicentric study of neonatal hemochromatosis: Importance of autopsy and autoimmune maternal manifestations","volume":"15","author":"Heissat","year":"2012","journal-title":"Pediatr. Dev. Pathol. Off. J. Soc. Pediatr. Pathol. Paediatr. Pathol. Soc."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/bs.vh.2019.01.004","article-title":"Hepcidin and the BMP-SMAD pathway: An unexpected liaison","volume":"110","author":"Silvestri","year":"2019","journal-title":"Vitam. Horm."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/cld.1051","article-title":"Pathology of Hepatic Iron Overload","volume":"17","author":"Salomao","year":"2021","journal-title":"Clin. Liver Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1177\/1093526619826429","article-title":"Extrahepatic Nonreticuloendothelial Siderosis Is Not Specific to Gestational Alloimmune Liver Disease","volume":"22","author":"Wu","year":"2019","journal-title":"Pediatr. Dev. Pathol. Off. J. Soc. Pediatr. Pathol. Paediatr. Pathol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1016\/j.jhep.2012.01.010","article-title":"Neonatal iron overload and tissue siderosis due to gestational alloimmune liver disease","volume":"56","author":"Bonilla","year":"2012","journal-title":"J. Hepatol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1007\/s00431-010-1309-1","article-title":"Neonatal liver failure: Aetiologies and management\u2014State of the art","volume":"170","author":"Shanmugam","year":"2011","journal-title":"Eur. J. Pediatr."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1023\/A:1024429032116","article-title":"Diagnosis of inherited disorders of liver metabolism","volume":"26","author":"Clayton","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_35","first-page":"640","article-title":"Diagnosis and management of metabolic liver failure in children","volume":"16","author":"Baruteau","year":"2009","journal-title":"Arch. Pediatr. Organe Off. La Soc. Fr. Pediatr."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1055\/s-0031-1286061","article-title":"Non-HFE hepatic iron overload","volume":"31","author":"Pietrangelo","year":"2011","journal-title":"Semin. Liver Dis."},{"key":"ref_37","first-page":"699","article-title":"Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders","volume":"197","author":"Sergi","year":"2001","journal-title":"Pathol. Res. Pract."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1203\/PDR.0b013e3181c2df69","article-title":"Relationship of Proximal Renal Tubular Dysgenesis and Fetal Liver Injury in Neonatal Hemochromatosis","volume":"67","author":"Bonilla","year":"2010","journal-title":"Pediatr. Res."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e20200918","DOI":"10.1542\/peds.2020-0918","article-title":"PIGA Mutations Can Mimic Neonatal Hemochromatosis","volume":"147","author":"Carver","year":"2021","journal-title":"Pediatrics"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ogc.2019.10.009","article-title":"Placental Magnetic Resonance Imaging: A Method to Evaluate Placental Function in Vivo","volume":"47","author":"Sinding","year":"2020","journal-title":"Obstet. Gynecol. Clin. N. Am."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/ajmg.a.36988","article-title":"Etiology of non-immune hydrops fetalis: An update","volume":"167","author":"Bellini","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.clp.2019.10.001","article-title":"Nonimmune Hydrops Fetalis","volume":"47","author":"Swearingen","year":"2020","journal-title":"Clin. Perinatol."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Society for Maternal-Fetal Medicine (SMFM), Norton, M.E., Chauhan, S.P., and Dashe, J.S. (2015). Society for maternal-fetal medicine (SMFM) clinical guideline #7: Nonimmune hydrops fetalis. Am. J. Obstet. Gynecol., 212, 127\u2013139.","DOI":"10.1016\/j.ajog.2014.12.018"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1046\/j.1469-0705.1996.07040251.x","article-title":"Prenatal ultrasonographic diagnosis of fetal hepatic hyperechogenicities: Clinical significance and implications for management","volume":"7","author":"Achiron","year":"1996","journal-title":"Ultrasound Obstet. Gynecol. Off. J. Int. Soc. Ultrasound Obstet. Gynecol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"285","DOI":"10.7863\/jum.2000.19.4.285","article-title":"Prenatal sonographic findings in fetal cirrhosis secondary to hemochromatosis","volume":"19","author":"Skaife","year":"2000","journal-title":"J. Ultrasound Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e177","DOI":"10.1016\/S1473-3099(17)30143-3","article-title":"Congenital cytomegalo-virus infection in pregnancy and the neonate: Consensus recommendations for prevention, diagnosis, and therapy","volume":"17","author":"Rawlinson","year":"2017","journal-title":"Lancet Infect. Dis."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/bdra.23588","article-title":"Parvovirus B19 infection during pregnancy and risks to the fetus","volume":"109","author":"Ornoy","year":"2017","journal-title":"Birth Defects Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"752272","DOI":"10.3389\/fgene.2021.752272","article-title":"Prenatal Diagnosis of Fetus with Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report","volume":"12","author":"Xue","year":"2021","journal-title":"Front. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/8904_2016_555","article-title":"N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels","volume":"31","author":"Rodan","year":"2017","journal-title":"JIMD Rep."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3109\/15513815.2016.1167149","article-title":"Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing","volume":"35","author":"Rafati","year":"2016","journal-title":"Fetal Pediatr. Pathol."},{"key":"ref_51","first-page":"1380","article-title":"Diagnosis and treatment of tyrosinemia type I: A US and Canadian consensus group review and recommendations","volume":"19","author":"Chinsky","year":"2017","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s10545-016-9990-5","article-title":"International clinical guideline for the management of classical galactosemia: Diagnosis, treatment, and follow-up","volume":"40","author":"Welling","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"292","DOI":"10.3389\/fendo.2018.00292","article-title":"First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature","volume":"9","author":"Ples","year":"2018","journal-title":"Front. Endocrinol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.pedneo.2013.01.015","article-title":"Prenatal-Onset Niemann-Pick Type C Disease with Nonimmune Hydrops Fetalis","volume":"54","author":"Yakarisik","year":"2013","journal-title":"Pediatr. Neonatol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.ijdevneu.2012.07.002","article-title":"Oxidative stress in Niemann-Pick type C patients: A protective role of N-butyl-deoxynojirimycin therapy","volume":"30","author":"Ribas","year":"2012","journal-title":"Int. J. Dev. Neurosci. Off. J. Int. Soc. Dev. Neurosci."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/jimd.12100","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision","volume":"42","author":"Burlina","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"129751","DOI":"10.1016\/j.bbagen.2020.129751","article-title":"Congenital disorders of glycosylation: Still \u2018hot\u2019 in 2020","volume":"1865","author":"Ondruskova","year":"2021","journal-title":"Biochim. Et Biophys. Acta Gen. Subj."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1038\/ejhg.2014.35","article-title":"A national perspective on prenatal testing for mitochondrial disease","volume":"22","author":"Nesbitt","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/ncpgasthep1179","article-title":"Mechanisms of Disease: Inborn errors of bile acid synthesis","volume":"5","author":"Sundaram","year":"2008","journal-title":"Nat. Clin. Pr. Gastroenterol. Hepatol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s40748-021-00129-3","article-title":"Prevalence of rhesus D-negative blood type and the challenges of rhesus D immunoprophylaxis among obstetric population in Ethiopia: A systematic review and meta-analysis","volume":"7","author":"Ayenew","year":"2021","journal-title":"Matern. Health Neonatol. Perinatol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1182\/blood.2019000936","article-title":"Pediatric hemophagocytic lymphohistiocytosis","volume":"135","author":"Canna","year":"2020","journal-title":"Blood"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1136\/jcp.55.9.676","article-title":"Hepatic veno-occlusive disease as a result of a traditional remedy: Confirmation of toxic pyrrolizidine alkaloids as the cause, using an in vitro technique","volume":"55","author":"Zuckerman","year":"2002","journal-title":"J. Clin. Pathol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"3753","DOI":"10.3748\/wjg.v25.i28.3753","article-title":"Pyrrolizidine alkaloids-induced hepatic sinusoidal obstruction syndrome: Pathogenesis, clinical manifestations, diagnosis, treatment, and outcomes","volume":"25","author":"Yang","year":"2019","journal-title":"World J. Gastroenterol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1007\/s11606-018-4669-2","article-title":"Diagnosis and Management of Genetic Iron Overload Disorders","volume":"33","author":"Palmer","year":"2018","journal-title":"J. Gen. Intern. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"623","DOI":"10.2214\/ajr.159.3.1503038","article-title":"Neonatal hemochromatosis: Diagnosis with MR imaging","volume":"159","author":"Hayes","year":"1992","journal-title":"Am. J. Roentgenol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1097\/MPG.0000000000001880","article-title":"Magnetic Resonance Imaging Findings in Neo-Natal Hemochromatosis","volume":"66","author":"Alenezi","year":"2018","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1016\/0016-5085(90)91110-R","article-title":"Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis","volume":"98","author":"Hoogstraten","year":"1990","journal-title":"Gastroenterology"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/BF02165863","article-title":"Prenatal diagnosis of idiopathic neonatal hemochromatosis with MRI","volume":"19","author":"Baamonde","year":"1994","journal-title":"Abdom. Imaging"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1080\/01443615.2020.1798907","article-title":"Usefulness of dual gradient-echo MR imaging for the prenatal diagnosis of gestational alloimmune disease","volume":"41","author":"Galindo","year":"2021","journal-title":"J. Obstet. Gynaecol. J. Inst. Obstet. Gynaecol."},{"key":"ref_70","first-page":"167","article-title":"Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping","volume":"13","author":"Schoennagel","year":"2014","journal-title":"Magn. Reson. Med. Sci. MRMS Off. J. Jpn. Soc. Magn. Reson. Med."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/jmri.27547","article-title":"Quantification of 1.5\u2009T T1 and T2 * Relaxation Times of Fetal Tissues in Uncomplicated Pregnancies","volume":"54","author":"Sethi","year":"2021","journal-title":"J. Magn. Reson. Imaging JMRI"},{"key":"ref_72","first-page":"203","article-title":"Evaluation of Fetal Thyroid with 3D Gradient Echo T1-weighted MR Imaging","volume":"16","author":"Fujii","year":"2017","journal-title":"Magn. Reson. Med. Sci. MRMS Off. J. Jpn. Soc. Magn. Reson. Med."},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Staicu, A., Albu, C., Popa-Stanila, R., Bondor, C.I., Rotar, I.C., Stamatian, F., and Muresan, D. (2021). Diagnostic value of virtual autopsy using pm-MRI at 3T on malformed second trimester fetuses vs. classic autopsy. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0260357"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1016\/S0140-6736(04)17367-4","article-title":"New hope for treatment of neonatal haemochromatosis","volume":"364","author":"Gissen","year":"2004","journal-title":"Lancet"},{"key":"ref_75","first-page":"328","article-title":"Genetic counseling in neonatal hemochromatosis","volume":"34","author":"Shneider","year":"2002","journal-title":"J. Pediatr. Gastroenterol. Nutr."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/7\/2679\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:09:26Z","timestamp":1760123366000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/7\/2679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,3]]},"references-count":75,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,4]]}},"alternative-id":["jcm12072679"],"URL":"https:\/\/doi.org\/10.3390\/jcm12072679","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,3]]}}}