{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T17:16:44Z","timestamp":1775755004752,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T00:00:00Z","timestamp":1573171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. This study reviews prenatal and neonatal characteristics of CDG presenting with NIHF. A systematic literature search was performed. Thirteen articles met the inclusion criteria. Twenty\u2010one cases with NIHF associated with a CDG were reported. There were 17 live births, three pregnancy terminations, and one fetal demise. Timing of CDG diagnosis was reported mostly postnatally (90%; 10\/11). Postnatal genetic testing was reported in 18 patients; three patients were diagnosed by isoelectric focusing of serum transferrin that showed a type 1 pattern. The genes reported for CDG with NIHF for 15 distinct families include: <jats:italic>PMM2<\/jats:italic> in 47% (7\/15), <jats:italic>ALG9<\/jats:italic> in 20% (3\/15), <jats:italic>ALG8<\/jats:italic> in 13% (2\/15), <jats:italic>ALG1<\/jats:italic> in 7% (1\/15), <jats:italic>MGAT2<\/jats:italic> in 7% (1\/15), and <jats:italic>COG6<\/jats:italic> 7% (1\/15). In our review, 81% (17\/21) reported facial dysmorphism, 52% (11\/21) reported CNS abnormalities, most commonly cerebellar atrophy (64%; 7\/11), and 38% (8\/21) reported cardiovascular abnormalities, most commonly hypertrophic cardiomyopathy (63%; 5\/8). Among live births, 71% (12\/17) infants died at a median age of 34\u2009days (range 1\u2010185). Thrombocytopenia was reported in 53% (9\/17) patients. Of those who survived past the neonatal period, 80% (4\/5) had significant reported developmental delays. CDG should be on the differential diagnosis of NIHF in the presence of cerebellar atrophy, hypertrophic cardiomyopathy, or thrombocytopenia. Our review highlights the poor prognosis in infants with NIHF due to CDG and demonstrates the importance of identifying these disorders prenatally to guide providers in their counseling with families regarding pregnancy management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Synopsis<\/jats:title><jats:p>Poor prognosis in fetuses and infants with nonimmune hydrops fetalis due to congenital disorders of glycosylation highlights the importance of prenatal diagnosis of this disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12162","type":"journal-article","created":{"date-parts":[[2019,8,17]],"date-time":"2019-08-17T07:54:36Z","timestamp":1566028476000},"page":"223-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review"],"prefix":"10.1002","volume":"43","author":[{"given":"Mona M.","family":"Makhamreh","sequence":"first","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naiga","family":"Cottingham","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research &amp; 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