{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:35:36Z","timestamp":1792643736943,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,8,17]],"date-time":"2006-08-17T00:00:00Z","timestamp":1155772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Blood was obtained by cordocentesis from a fetus with non\u2010immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG\u2010Ia). A diagnosis of CDG\u2010Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG\u2010Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non\u2010immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1543","type":"journal-article","created":{"date-parts":[[2006,8,17]],"date-time":"2006-08-17T12:11:10Z","timestamp":1155816670000},"page":"985-988","source":"Crossref","is-referenced-by-count":35,"title":["Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG\u2010Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27\u2010week fetus with non\u2010immune hydrops"],"prefix":"10.1002","volume":"26","author":[{"given":"Matthew","family":"Edwards","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"McKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"O'Callaghan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Somerset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Woodford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian","family":"Spilsbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Fietz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Fletcher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,10,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/8.4.351"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)91244-G"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005496920435"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000169963.94378.B6"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.029629"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024431131208"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000031221.44647.9e"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mop.0000133636.56790.4a"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1136-0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.815"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199205000-00020"},{"key":"e_1_2_1_13_1","article-title":"Congenital Disorder of glycosylation type Ia","author":"Sparkes S","year":"2005","journal-title":"Genetests"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1543","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1543","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T12:01:00Z","timestamp":1700049660000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1002\/pd.1543"],"URL":"https:\/\/doi.org\/10.1002\/pd.1543","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10]]}}}