{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T18:34:37Z","timestamp":1789842877407,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"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":["Congenital Anomalies"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two\u2010dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans\u2010disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one\u2010fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.<\/jats:p>","DOI":"10.1111\/cga.12538","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T03:51:25Z","timestamp":1693540285000},"page":"195-199","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2450-871X","authenticated-orcid":false,"given":"Tatiana","family":"Moreira","sequence":"first","affiliation":[{"name":"Department of Paediatrics Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madalena","family":"Von Hafe","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Rita","family":"Curval","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Ramalho","sequence":"additional","affiliation":[{"name":"Transdisciplinary Team of Cleft Lip and Palate Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"Department of Obstetrics Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"Department of Gynaecology\u2010Obstetrics and Paediatrics, Faculty of Medicine University of Porto  Porto Portugal"},{"name":"Department of Human Genetics, Faculty of Medicine University of Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Maria","family":"Maia","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"Transdisciplinary Team of Cleft Lip and Palate Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"Department of Gynaecology\u2010Obstetrics and Paediatrics, Faculty of Medicine University of Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Pinto","family":"Moura","sequence":"additional","affiliation":[{"name":"Transdisciplinary Team of Cleft Lip and Palate Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"Department of Human Genetics, Faculty of Medicine University of Porto  Porto Portugal"},{"name":"Department of Otorhinolaryngology Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"i3S, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Orofacial Cleft Team of University Hospital Center of S\u00e3o Jo\u00e3o, EPE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,31]]},"reference":[{"issue":"2","key":"e_1_2_8_2_1","first-page":"59","article-title":"Classifica\u00e7\u00e3o das fissuras l\u00e1bio\u2010palatais: breve hist\u00f3rico, considera\u00e7\u00f5es cl\u00ednicas e sugest\u00e3o de modifica\u00e7\u00e3o","volume":"82","author":"Silva Filho OG","year":"1992","journal-title":"Rev Bras Cir"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200011)20:11<870::AID-PD940>3.0.CO;2-J"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198112000-00002"},{"key":"e_1_2_8_5_1","unstructured":"Normative Circular No. 10\/DSMIA of 07\/05\/2001 of the General Health Directorate (DGS)."},{"key":"e_1_2_8_6_1","unstructured":"Normative Circular No. 023\/2011 updated on 21\/05\/203. Ultrasound examinations in low\u2010risk pregnancies."},{"key":"e_1_2_8_7_1","first-page":"2S","article-title":"Technique of early sonographic diagnosis of bilateral cleft lip and palate","volume":"62","author":"Seeds JW","year":"1983","journal-title":"Obstet Gynecol"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_1991_028_0119_sdioc_2.3.co_2"},{"key":"e_1_2_8_9_1","first-page":"1","volume-title":"2021 EIP Abstract Book","author":"Tatiana M","year":"2021"},{"issue":"5","key":"e_1_2_8_10_1","article-title":"Analysis of family incidence of cleft lip and\/or palate","volume":"13","author":"Kot M","year":"2007","journal-title":"Med Sci Monit"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/GOX.0000000000001635"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23329"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5280"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2002.00721.x"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7704"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2642"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7472"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.4103\/jmu.jmu_20_22"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/1055665618763337"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12538","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T02:10:35Z","timestamp":1700100635000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12538"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/cga.12538"],"URL":"https:\/\/doi.org\/10.1111\/cga.12538","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,31]]},"assertion":[{"value":"2022-09-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}