{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:25:14Z","timestamp":1761920714444,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T00:00:00Z","timestamp":1581465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb\u2010body wall complex, in five with Meckel\u2010Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene <jats:italic>CC2D2A<\/jats:italic>). Twenty\u2010eight pregnancies were terminated (77.8%; 28\/36); two were miscarried (5.6%; 2\/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2\/8) with 0% intact survival.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5654","type":"journal-article","created":{"date-parts":[[2020,1,31]],"date-time":"2020-01-31T11:43:03Z","timestamp":1580470983000},"page":"612-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis and clinical significance of cephalocele\u2014A single institution experience and literature review"],"prefix":"10.1002","volume":"40","author":[{"given":"Sylwia","family":"D\u0105bkowska","sequence":"first","affiliation":[{"name":"Department of Gynecologic Oncology and Obstetrics Professor Witold Orlowski Public Teaching Hospital  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4919-6425","authenticated-orcid":false,"given":"Anna","family":"Kuci\u0144ska\u2010Chahwan","sequence":"additional","affiliation":[{"name":"Department of Gynecologic Oncology and Obstetrics Professor Witold Orlowski Public Teaching Hospital  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Beneturska","sequence":"additional","affiliation":[{"name":"Department of Gynecologic Oncology and Obstetrics Professor Witold Orlowski Public Teaching Hospital  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicja","family":"Ilnicka","sequence":"additional","affiliation":[{"name":"Genetic Department Institute of Psychiatry and Neurology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grzegorz","family":"Panek","sequence":"additional","affiliation":[{"name":"Department of Gynecologic Oncology and Obstetrics Professor Witold Orlowski Public Teaching Hospital  Warsaw Poland"},{"name":"Department of Gynecologic Oncology and Obstetrics Centre of Postgraduate Medical Education  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Roszkowski","sequence":"additional","affiliation":[{"name":"Department of Gynecologic Oncology and Obstetrics Professor Witold Orlowski Public Teaching Hospital  Warsaw Poland"},{"name":"Department of Gynecologic Oncology and Obstetrics Centre of Postgraduate Medical Education  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8342-8560","authenticated-orcid":false,"given":"Julia","family":"Bijok","sequence":"additional","affiliation":[{"name":"Department of Gynecologic Oncology and Obstetrics Professor Witold Orlowski Public Teaching Hospital  Warsaw Poland"},{"name":"Department of Gynecologic Oncology and Obstetrics Centre of Postgraduate Medical Education  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,2,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199911113412006"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-3016.2003.00471.x"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01660747"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1972.36.2.0201"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151586"},{"key":"e_1_2_11_7_1","first-page":"193","article-title":"Geographical distribution of fronto\u2010ethmoidal encephalomeningocele","volume":"26","author":"Suwanwela C","year":"1972","journal-title":"Brit J Prev Soc Med"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(08)60002-9"},{"volume-title":"London Neurogenetics Database & Dysmorphology Photo Library on CD\u2010ROM","year":"2001","author":"Baraitser M","key":"e_1_2_11_9_1"},{"key":"e_1_2_11_10_1","unstructured":"[dataset]D\u0105bkowskaS. 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