{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T05:41:28Z","timestamp":1697434888934},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,2,13]],"date-time":"2007-02-13T00:00:00Z","timestamp":1171324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:p><jats:bold>ABSTRACT\u2003<\/jats:bold> Failed ultrasonographic visualization of nasal bones is associated with an increased risk of fetal malformations. Maternal ethnicity and chromosomal abnormalities influence the incidence and visualization rate of nasal bones. A case of absent nasal bones with fronto\u2010nasal dysplasia and septated cystic hygroma identified at 13<jats:sup>+5<\/jats:sup> weeks\u2019 gestation in a trisomy\u200318 fetus is reported. The crown\u2013rump length was 82\u2003mm and the absent nasal bones were associated with micrognathia and a flattened face. The risks for trisomy\u200321 and 18 were subsequently calculated. The couple refused chorionic villus sampling. At 19\u2003weeks\u2019 gestation a follow\u2010up scan revealed, apart from the resolution of septated cystic hygroma, hypertelorism, a large interventricular septum defect with an atrio\u2010ventricular canal and an abnormal A\u2003wave Doppler pulsation at the level of the ductus venosus. Bilateral choroid plexus cysts were additional ultrasound findings. At that time, an uneventful cordocentesis was performed showing a 47,XY(+18) karyotype. Termination of pregnancy was achieved and pathologic examination confirmed the ultrasonographically detected fetal malformations. When screening the fetal face for the presence or absence of nasal bones during the first trimester pregnancy scan the following points must be taken into consideration: (i) the ethnicity of the mother; (ii) if the nasal bones are absent, measurement of nuchal translucency and risk calculations for trisomy\u200321 and trisomy\u200318 should be performed; (iii) if the calculated risks are high, karyotyping should be recommended; and (iv) determine whether the absent nasal bones are an isolated or an associated finding and, in the latter case, discriminate between minor or major fetal malformations.<\/jats:p>","DOI":"10.1111\/j.1741-4520.2006.00139.x","type":"journal-article","created":{"date-parts":[[2007,2,13]],"date-time":"2007-02-13T23:51:19Z","timestamp":1171410679000},"page":"45-48","source":"Crossref","is-referenced-by-count":2,"title":["Fronto\u2010nasal dysplasia and atrio\u2010ventricular canal in a fetus with trisomy\u200318 identified by absent nasal bones during first trimester screening scan"],"prefix":"10.1111","volume":"47","author":[{"given":"Gabriele","family":"Tonni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"De Felice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Asioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Ventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,2,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199805)18:5<447::AID-PD280>3.0.CO;2-F"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)06709-5"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.170"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2004.23.10.1327"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<332::AID-AJMG16>3.0.CO;2-V"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000143255.46196.7a"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000148848.49752.37"},{"key":"e_1_2_4_9_1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1046\/j.1471-0528.2003.00025.x-i1","article-title":"Maternal ethnic origin and fetal nasal bones at 11\u201314\u2003weeks of gestation","volume":"111","author":"Prefumo F","year":"2004","journal-title":"Br J Obstet Gynecol"},{"key":"e_1_2_4_10_1","first-page":"124","article-title":"The prenatal development of the human nasal and vomeral bones","volume":"14","author":"Sandkcioglu M","year":"1994","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.694"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.628"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1741-4520.2006.00139.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1741-4520.2006.00139.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T14:13:15Z","timestamp":1697379195000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2006.00139.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2,13]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["10.1111\/j.1741-4520.2006.00139.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1741-4520.2006.00139.x","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2,13]]}}}