{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T15:27:43Z","timestamp":1781882863568,"version":"3.54.5"},"reference-count":5,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duo exome testing was performed on a fetus conceived via <jats:italic>in vitro<\/jats:italic> fertilization\u00a0with an egg donor. The fetus presented with non\u2010immune hydrops fetalis (NIHF) at 20\u00a0+\u00a00\u00a0weeks gestation. Two variants were detected in the <jats:italic>GUSB<\/jats:italic> gene. Biallelic pathogenic variants cause mucopolysaccharidosis type VII (MPS\u2010VII), which can present with NIHF prenatally. At the time of analysis and initial report, one variant was classified as likely pathogenic and the other as of uncertain clinical significance. Biochemical testing of the amniotic fluid supernatant showed elevated glycosaminoglycans and low \u03b2\u2010glucuronidase activity consistent with the diagnosis of MPS\u2010VII. This evidence allowed the upgrade of the pathogenicity for both variants, confirming the diagnosis of MPS\u2010VII. The infant was born at 36\u00a0+\u00a05\u00a0weeks and enzyme replacement therapy (ERT) using vestronidase was initiated at 20\u00a0days with planning for hematopoietic stem cell transplant ongoing. The ERT therapy has been well tolerated, with decreasing quantitative urine glycosaminoglycans. Long\u2010term follow up is required to determine whether treatment has been successful. This case demonstrates the utility of alternative testing methods to clarify the pathogenicity of variants and the clinical utility of obtaining a diagnosis antenatally in facilitating treatment in the neonatal period, and specifically highlights MPS\u2010VII as a treatable cause of NIHF.<\/jats:p>","DOI":"10.1002\/pd.6455","type":"journal-article","created":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T17:14:55Z","timestamp":1700068495000},"page":"1567-1569","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1396-0740","authenticated-orcid":false,"given":"Natalie Jane","family":"Chandler","sequence":"first","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare","family":"Beesley","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chineze","family":"Otigbah","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Queens Hospital  Romford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Davison","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Department Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tazeen","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Clinical Genetics Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6165"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61034"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.12659\/msm.915876"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201000967\u20100"},{"key":"e_1_2_6_6_1","unstructured":"NHS England.Urgent Clinical Commissioning Policy Statement: Vestronidase Alfa for Mucopolysaccharidosis Type VII (MPS Sly Syndrome) (Infantile) [2202\/210401UPS].NHS England;2022. Accessed November 13 2023.https:\/\/www.england.nhs.uk\/publication\/urgent\u2010clinical\u2010commissioning\u2010policy\u2010statement\u2010vestronidase\u2010alfa\u2010for\u2010mucopolysaccharidosis\u2010type\u2010vii\u2010mps\u2010sly\u2010syndrome\u2010infantile\/"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6455","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T08:35:42Z","timestamp":1700210142000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":5,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/pd.6455"],"URL":"https:\/\/doi.org\/10.1002\/pd.6455","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"2023-09-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}