Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

Abstract

To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by investigating NICU facilities where detailed examinations are thoroughly performed.

Access to antenatal healthcare and the prevalence of oral clefts: a spatial analysis

“…Out of 1,000 births, 1.15 children were born with oral clefts. This estimate is lower than those reported for Japan (8) and China (25), but higher than those reported for Europe, including Britain and France (26). The present study focused on the relative risk of oral clefts in healthcare underserved areas and non-healthcare underserved areas.…”

Trend of health care utilization of cleft lip and/or palate in Korea during 2007–2016

“…The rate per 1,000 births in the new-born group (1.74; Table 1 ) was within the range of rates described in previous studies using the KNHIS data (1.81 in the study by Kim et al 12 and 1.11 in the study of Kim et al 13 ; Table 5 ). However, it was higher than the rates reported in the Japanese (1.32), 7 Taiwanese (1.37–1.43), 4 5 and international populations (0.99–1.45) 2 6 ( Table 5 ).…”

“… 14 However, the order of cleft types differed in the Korean population (38.6% with CL, 36.4% with CLP, and 25% with CP according to hospital birth records over 20 years) 9 and the Japanese papulation (47% with CLP, 32% with CL, and 21% with CP) ( Table 5 ). 7 Although the IPTOC workgroup 2 and Mai et al 6 investigated international populations, they did not divide the CP and CLP populations ( Table 5 ). Therefore, it is impossible to directly compare their results with those of the present study.…”

“…On the basis of an incidence study on East Asian patients with CL/P, Koga et al 7 reported that the incidence of CL/P per 1,000 births in Japan was 1.32 (0.42 for CL, 0.28 for CP, and 0.62 for CLP) and the distribution was 32% with CL, 21% with CP, and 47% with CLP. According to Lei et al 4 and Chang et al, 5 the incidence of CL/P in Taiwan was 1.37 to 1.43 per 1,000 births (0.97–0.99 for CL with/without CP, and 0.4–0.49 for CP only) and the distribution was 66.9% to 70.7% for CL with/without CP and 29.3% to 33.1% with CP only.…”

Microrrearranjos cromossômicos em síndromes craniofaciais complexas

“…As anomalias craniofaciais representam mais de um terço das anomalias congênitas (TWIGG; WILKIE, 2015) e, entre elas, as fissuras orofaciais, as quais incluem a fissura de lábio com ou sem envolvimento do palato (FL/P) e a fissura de palato (FP), são as mais frequentes (VANDERAS, 1987;JONES, 1988;CROEN et al, 1998;CERVENKA, 1998;SCHUTTE;MURRAY, 1999;GORLIN;COHEN;HENNEKAM, 2001;JIANG;BUSH;LIDRAL, 2006;MOSSEYet al, 2009;GUNDLACH;MAUS, 2006;FREITAS, 2007;JEHEE et al, 2009;FARLIE;KILPATRICK, 2009;KRANTZ;ALLANASON, 2010;DIXON et al, 2011;IPDTOC WORKING GROUP, 2011;DORAY et al, 2012;FREITAS et al, 2012;MAARSE et al, 2012;SHI et al, 2012, WATKINS et al, 2014KOGA et al, 2016), afetando 1 em cada 700 nascidos vivos (DIXON et al, 2011; CROCKETT; GOUDY, 2014) e podendo ocorrer de forma isolada ou associada a outras anomalias (ALTUNHAN et al, 2012;PAASKE;GARNE, 2018). Embora a FL/P e a FP sejam os tipos mais comuns de fissura orofacial, há outras formas raras que afetam outras estruturas craniofaciais, como por exemplo, a mandíbula, o lábio inferior, a comissura labial, o terço médio superior da face, a região nasal, ocular e até mesmo a região craniana (TESSIER, 1976;MAZZOLA;MAZZOLA, 2014; FIJAŁKOWSKA; ANTOSZEWSKI, 2015).…”