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This report describes prenatal detection of fetal NCM by ultrasound, MRI, and fetoscopy, with amniocentesis-based CNV-seq and Trio-WES and subsequent pathological confirmation of extensive cerebellar melanin deposition. No known pathogenic mutations were identified, supporting prenatal identification and diagnosis.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/prenatal-fetal-neurocutaneous-melanosis-a-case-report-and-literature-review/408354/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/prenatal-fetal-neurocutaneous-melanosis-a-case-report-and-literature-review/408354.png","ImageObject",300,407,{"name":42,"@type":43},"jay","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-29","2026-09-28",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",16,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What is neurocutaneous melanosis (NCM)?","Question",{"text":63,"@type":64},"NCM is a rare congenital syndrome characterized by congenital melanocytic nevi of the skin and melanocytic deposits in the central nervous system.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How was the fetal NCM detected during pregnancy in this case?",{"text":68,"@type":64},"The fetus showed diffuse enhancement of cerebellar hemisphere echogenicity on ultrasound at about 23 weeks, with subsequent MRI findings suggesting abnormal cerebellar signals and fetoscopy revealing scattered pigmented skin areas.",{"name":70,"@type":61,"acceptedAnswer":71},"Did genetic testing identify known pathogenic mutations in this case?",{"text":72,"@type":64},"No. CNV-seq showed a benign X-chromosome duplication, and Trio-WES did not reveal pathogenic mutations associated with the 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Fetal Neurocutaneous Melanosis: A Case Report and Literature Review\u003Cbr>Xue Zhao1  | Jing Wang1 | Juan Song1 | Yiwen He1 | Xiaoying Zhang2 | Qiang Ma1 | Ying Gu1 | Li Lin1\u003Cbr>1Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing, China | 2Department of Pathology, Peking University International Hospital, Beijing, China\u003Cbr>Correspondence: Li Lin ([linli488@126.com](linli488@126.com))\u003Cbr>Received: 19 September 2025 | Revised: 13 December 2025 | Accepted: 19 December 2025\u003Cbr>Keywords: case report | cerebellar hemispheres | neurocutaneous melanosis | prenatal diagnosis |  |\n| --- | --- |\n| ABSTRACT\u003Cbr>Background: Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by congenital melanocytic nevus of the skin with melanocytic deposits in the central nervous system. Patients with neurological symptoms have a poor prognosis and may die within years of symptom onset.\u003Cbr>Case Report: A fetus was found to have diffuse enhancement of cerebellar hemispheric echo at 23 weeks of gestation and amniocentesis was performed at 25 weeks of gestation. Fetal DNA was extracted from amniotic fluid for copy number variation sequencing (CNV-seq) and Trio-total whole-exome sequencing (Trio-WES) . However, genetic tests did not reveal pathogenic mutations associated with this case phenotype. At 29 weeks of pregnancy, a fetoscopy examination was performed, and multiple scattered pigmentation spots were found on the skin of the fetus's back. At 31 weeks of pregnancy, the pregnant woman requested an induced abortion to terminate the pregnancy. Multiple areas of pigmentation can be seen on the skin of a stillborn fetus. Pathological examination confirmed a large amount of melanin deposition in the cerebellum tissue of the stillborn fetus. Conclusions: We reported a rare case of prenatal NCM, but no known pathogenic mutations, such as NRAS gene mutations, were found. This confirmed that there might be no definite pathogenic mutations in the NCM case, providing important data support for the prenatal identification and diagnosis of NCM.\u003Cbr>We reported a rare case of prenatal NCM, but no known pathogenic mutations, such as NARS gene mutations, were found. This confirmed that there might be no definite pathogenic mutations in the NCM case, providing important data support for the prenatal identification and diagnosis of NCM. |  |\n| 1 | Introduction | cases account for the majority, but prenatal cases are still rare. We report a rare case of prenatal NCM detected by ul- |\n| Neurocutaneous melanoma (NCM) is a rare congenital syn- | trasound, MRI, and fetoscopy during pregnancy and con- |\n| drome caused by neuroectodermal dysplasia and charac- | firmed pathologically. Genetic testing in this case did not |\n| terized by congenital melanocytic nevus of the skin and | reveal any known associated pathogenic mutations, a finding |\n| melanocytic deposits in the central nervous system. There | that is important for prenatal identification and diagnosis |\n| are more than 100 clinical cases reported, of which pediatric | of NCM. |\n| Xue Zhao, Jing Wang, and Juan Song contributed equally to this work and are considered co-first authors. |  |\n| This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.\u003Cbr>© 2025 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |  |\n\nMolecular Genetics & Genomic Medicine, 2026; 14:e70174 1 of 6  \n[https://doi.org/10.1002/mgg3.70174](https://doi.org/10.1002/mgg3.70174)  \n2 | Case Report  \nIn this case, the pregnant woman was 38 years old, G4P2A1, with no history of adverse pregnancy, delivered twice vaginally, and had two healthy children. There was no abnormality in fetal ultrasound at 13 gestational weeks, with NT 1.","cbCaij48z1jvZVyw","https://ap.wps.com/l/cbCaij48z1jvZVyw","pdf",1052616,"English","# Introduction\n# Case Report\n## Prenatal Findings and Imaging\n## Genetic Testing and Pregnancy Outcome\n# Discussion","[{\"question\":\"What is neurocutaneous melanosis (NCM)?\",\"answer\":\"NCM is a rare congenital syndrome characterized by congenital melanocytic nevi of the skin and melanocytic deposits in the central nervous system.\"},{\"question\":\"How was the fetal NCM detected during pregnancy in this case?\",\"answer\":\"The fetus showed diffuse enhancement of cerebellar hemisphere echogenicity on ultrasound at about 23 weeks, with subsequent MRI findings suggesting abnormal cerebellar signals and fetoscopy revealing scattered pigmented skin areas.\"},{\"question\":\"Did genetic testing identify known pathogenic mutations in this case?\",\"answer\":\"No. CNV-seq showed a benign X-chromosome duplication, and Trio-WES did not reveal pathogenic mutations associated with the phenotype.\"}]","Prenatal Fetal Neurocutaneous Melanosis - A Case Report and Literature Review | PDF",1790579124,15]