Congenital Anomalies最新文献

Congenital Anomaly Trends in Vietnam: A 16-Year Analysis 越南先天性异常趋势：16年分析。

IF 1.6 4区医学

Congenital Anomalies Pub Date : 2025-09-25 DOI: 10.1111/cga.70024

Teruyuki Niimi, Tran Phuong Thao, Hideto Imura, Hiroo Furukawa, Nagana Natsume, Kayo Hayami, Maya Yoshida, Masaaki Ito, Yasunori Akiyama, Yuki Akiyama, Kumiko Fujiwara, Trinh Minh Hiep, Tran Le Duy, Le Kha Anh, Nagato Natsume

{"title":"Congenital Anomaly Trends in Vietnam: A 16-Year Analysis","authors":"Teruyuki Niimi, Tran Phuong Thao, Hideto Imura, Hiroo Furukawa, Nagana Natsume, Kayo Hayami, Maya Yoshida, Masaaki Ito, Yasunori Akiyama, Yuki Akiyama, Kumiko Fujiwara, Trinh Minh Hiep, Tran Le Duy, Le Kha Anh, Nagato Natsume","doi":"10.1111/cga.70024","DOIUrl":"10.1111/cga.70024","url":null,"abstract":"<div>\u0000 \u0000 <p>Congenital anomalies (CAs) are significant contributors to infant morbidity and mortality globally. In Vietnam, disparities in healthcare access, particularly in remote regions like Ben Tre Province, necessitate detailed research on CAs to inform public health strategies. This cross-sectional, retrospective study analyzed CAs among 126 233 live births at Nguyen Dinh Chieu Hospital in Ben Tre Province from 2008 to 2023. Data were collected using 33 diagnostic markers, with cases identified through physical examinations and ICD-10 classification. Cleft lip and palate emerged as the most common CAs, with a significant presence among the identified cases. The overall incidence of CAs throughout the study period was 0.342%. The annual incidence varied over time, declining from 0.736% in 2008 to 0.491% in 2023. Hand polydactyly and cleft lip were also frequently observed, while rare anomalies included facial clefts and conjoined twins. The study indicates a general decrease in CAs over 16 years, with cleft lip and palate showing the highest incidence. To address these anomalies effectively, improvements in prenatal care, diagnostics, and targeted interventions are essential. Future research should focus on specific risk factors and evaluate preventive measures, with continued monitoring critical for understanding trends and enhancing health outcomes.</p>\u0000 </div>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four 腭裂儿童的早期干预：韦氏学前和小学四岁智力量表的首次报告。

IF 1.6 4区医学

Congenital Anomalies Pub Date : 2025-09-24 DOI: 10.1111/cga.70025

Tomoko Mori, Toko Hayakawa, Chisako Inoue, Teruyuki Niimi, Hiroo Furukawa, Nagato Natsume

{"title":"Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four","authors":"Tomoko Mori, Toko Hayakawa, Chisako Inoue, Teruyuki Niimi, Hiroo Furukawa, Nagato Natsume","doi":"10.1111/cga.70025","DOIUrl":"10.1111/cga.70025","url":null,"abstract":"<div>\u0000 \u0000 <p>In recent years, the necessity of early intervention in speech therapy for children with cleft palate has become widely recognized. To achieve more effective treatment outcomes through comprehensive early intervention, we launched an Early Intervention Program (EI Program) in 2010 at the Department of Speech and Orofacial Function Development, Aichi Gakuin University Dental Hospital. As part of a series of studies to evaluate the effectiveness of the EI Program, the present study aimed to examine the relationship between participation in the EI Program and cognitive development in children with cleft palate. A total of 33 children who underwent palatoplasty and participated in the EI Program (EI group) and 40 children who did not participate (control group) at the Cleft Lip and Palate Center were included. The Wechsler Preschool and Primary Scale of Intelligence (WPPSI) was administered at age four to assess full-scale IQ, verbal IQ, and performance IQ. Results showed that, overall, children with cleft palate exhibited higher performance IQ but slightly lower verbal IQ compared to population norms. Moreover, the EI group demonstrated significantly higher full-scale IQ and verbal IQ compared to the control group. Given that verbal IQ reflects crystallized intelligence developed through learning and experience, these findings suggest that early speech intervention may contribute to promoting crystallized intelligence development in children with cleft palate.</p>\u0000 </div>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145133066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non-Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia 索马里非综合征性唇腭裂伴发原发性和继发性缺陷2253例临床研究——索马里贝拉·里苏基金会慈善手术首期报告

IF 1.6 4区医学

Congenital Anomalies Pub Date : 2025-09-13 DOI: 10.1111/cga.70023

Martin Kamau, Krishan Sarna, Symon Guthua, Khushboo Jayant Sonigra, Paul Kimani

{"title":"A Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non-Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia","authors":"Martin Kamau, Krishan Sarna, Symon Guthua, Khushboo Jayant Sonigra, Paul Kimani","doi":"10.1111/cga.70023","DOIUrl":"https://doi.org/10.1111/cga.70023","url":null,"abstract":"<div>\u0000 \u0000 <p>Cleft lip and/or palate deformities impose a significant burden on families, particularly in low-income communities. Somalia, characterized by an under-resourced healthcare system, encounters unique healthcare challenges from other regions. These challenges complicate the management and treatment of cleft lip and/or palate, highlighting the need for tailored healthcare strategies to address the specific needs of this population. However, a comprehensive understanding of the patterns and distribution of these deformities in Somalia remains limited. This retrospective cross-sectional study analyzed 2253 clinical records registered in Somalia spanning 2018–2023, obtained from the Bela Risu Foundation, a not-for-profit organization that provides free surgeries for people affected by craniofacial deformities. After meticulous record verification and data extraction, cleft pattern modeling was used to analyze each case. Data were imported to a statistical software package, SPSS, and descriptive statistics were calculated, which included means, frequencies, percentages, and standard deviations. Additionally, comparative analyses between genders were conducted. The findings revealed a significantly higher average presentation age than global findings. We also observed a greater number of males than females in orofacial cleft patients in the data recorded in Somalia that we obtained. Remarkable disparities in case distribution across states within the country were observed. Cleft lip emerged as the most observed primary defect, whereas lip and nose defects subsequent to surgical treatment of primary clefts constituted the most frequent secondary defect. These findings shed light on the unique patterns and distribution of cleft lip and palate deformities in Somalia, highlighting the need for targeted interventions and support systems.</p>\u0000 </div>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye 染色体微阵列在产前诊断：来自<s:1> rkiye的单中心经验

IF 1.6 4区医学

Congenital Anomalies Pub Date : 2025-08-23 DOI: 10.1111/cga.70022

Gulsum Kayhan, Meral Yirmibeş Karaoguz, Pınar Calis, Hasan Huseyin Kazan, Deniz Karcaaltincaba, Esra Tug

{"title":"Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye","authors":"Gulsum Kayhan, Meral Yirmibeş Karaoguz, Pınar Calis, Hasan Huseyin Kazan, Deniz Karcaaltincaba, Esra Tug","doi":"10.1111/cga.70022","DOIUrl":"https://doi.org/10.1111/cga.70022","url":null,"abstract":"<div>\u0000 \u0000 <p>Chromosomal microarray (CMA) is a powerful method for detecting copy number alterations and is regularly used to diagnose various genetic diseases. Numerous reports from different populations have documented the applicability of CMA in prenatal diagnosis. Nevertheless, such efforts are still needed to survey the pertinence of this method in the presence of clinical findings. Hence, the present study aims to record the results of CMA in a large Turkish cohort. The study consisted of 373 prenatal samples. CMA was performed on fetuses with various ultrasound (USG) abnormalities, family histories, or abnormal screening test results. Fetal anomalies were divided into groups according to USG findings. By CMA analyses, 18 patients (18/373; 4.8%) had 21 pathogenic variants. Seven of the 21 pathogenic variants were recurrent microdeletions or duplications, whereas 14 had unique breakpoints. This study emphasized the importance and effectiveness of CMA in prenatal diagnosis. It further highlighted that reporting the results, particularly in cases with a unique breakpoint, is essential for genetic counseling and management in prenatal cases.</p>\u0000 </div>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144891592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to: “Patterns of Primary and Secondary Defects Associated With Non-Syndromic Cleft Lip and Palate: An Epidemiological Analysis in a Kenyan Population” 更正：“与非综合征性唇腭裂相关的原发性和继发性缺陷模式：肯尼亚人口的流行病学分析”

IF 1.6 4区医学

Congenital Anomalies Pub Date : 2025-08-05 DOI: 10.1111/cga.70021

引用次数: 0

Non-Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8 非免疫性水肿胎儿，多灶性脉络膜瘤病和努南综合征

IF 1.6 4区医学

Congenital Anomalies Pub Date : 2025-07-29 DOI: 10.1111/cga.70020

Eugen-Matthias Strehle, Alison Redshaw, Noor Alhashimi, Pallavi Chealikani, Nira Flanighan, Ahmed Etman, Benjamin Simpson, Brian Wilson, Corina Moldovan

引用次数: 0

Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer 纳米孔长读测序诊断遗传性出血性毛细血管扩张

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-07-17 DOI: 10.1111/cga.70019

Mamiko Yamada, Daisuke Watanabe, Fuyuki Miya, Hideki Shiramizu, Masanori Inoue, Hiroki Kabata, Nobuhiro Nakamoto, Takahiro Hiraide, Takenori Akiyama, Kenjiro Kosaki

{"title":"Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer","authors":"Mamiko Yamada, Daisuke Watanabe, Fuyuki Miya, Hideki Shiramizu, Masanori Inoue, Hiroki Kabata, Nobuhiro Nakamoto, Takahiro Hiraide, Takenori Akiyama, Kenjiro Kosaki","doi":"10.1111/cga.70019","DOIUrl":"https://doi.org/10.1111/cga.70019","url":null,"abstract":"<p>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by excessive and frequent epistaxis, telangiectasia, and visceral involvement, with a strong positive family history. The genes responsible for HHT are endoglin (<i>ENG</i>), activin A receptor-like kinase 1 (<i>ACVRL1</i> or <i>ALK-1</i>), and <i>SMAD4</i> are known. As opposed to epistaxis and telangiectasia, whether or not the disease is prone to any visceral lesions depends on the causative gene. Arteriovenous malformations (AVMs) of the brain and lung are common in <i>ENG</i>, hepatic AVMs and cutaneous telangiectasia are common in <i>ACVRL1</i>, and juvenile polyposis (JP-HHT) is characteristic in <i>SMAD4</i>. Therefore, the diagnosis of HHT and its subclasses in patients with recurrent epistaxis is clinically important for predicting cerebral and visceral complications and for prophylactic medical or surgical treatment. Genomic techniques for the molecular diagnosis of HHT have advanced remarkably in recent years. Long-read sequencing using nanopore technology is now recognized as a new and effective approach for the detection of structural aberrations, such as large deletions, that cannot be detected by conventional short-read analysis. In particular, a new technique called adaptive long-read sequencing can selectively sequence only pre-defined target regions. Here we report two patients with HHT in whom no variants were found by short-read targeted sequencing, but structural variants were detected by adaptive nanopore sequencing. These molecular diagnostic results were used in their clinical management.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70019","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144647600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Refractory congenital chylous ascites—Case report of a successful surgical management 难治性先天性乳糜腹水一例成功手术治疗报告

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-07-12 DOI: 10.1111/cga.70017

Inês Araújo Oliveira, Luís Salazar, Catarina Carvalho, Luísa Neiva, Elisa Proença, Fátima Carvalho, Helena Ferreira Mansilha

引用次数: 0

Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus 胎儿肺动脉多普勒对妊娠期糖尿病孕妇新生儿结局的可预测性

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-07-10 DOI: 10.1111/cga.70018

Huriye Ezveci, Şükran Doğru, Fikriye Karanfil Yaman

{"title":"Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus","authors":"Huriye Ezveci, Şükran Doğru, Fikriye Karanfil Yaman","doi":"10.1111/cga.70018","DOIUrl":"https://doi.org/10.1111/cga.70018","url":null,"abstract":"<p>This study examined the impact of blood glucose-regulated gestational diabetes (GDM) on fetal pulmonary artery Doppler parameters. This prospective case–control study was performed at a tertiary university hospital. The study cohort comprised GDM patients with controlled blood glucose levels and a healthy control group. Acceleration time/ejection time (At/Et) of the main pulmonary artery, right pulmonary artery, and left pulmonary artery Doppler parameters were assessed and contrasted between the two groups. The study comprised 90 patients, with 30 in the gestational diabetes mellitus group focused on blood sugar regulation and 60 in the healthy control group. No statistically significant difference was observed between the two groups regarding the common main pulmonary artery At/Et (<i>p</i> = 0.465), right pulmonary artery At/Et (<i>p</i> = 0.237), and left pulmonary artery At/Et (<i>p</i> = 0.283). No statistically significant difference was noted between the two groups regarding APGAR scores and blood gas parameters of the newborns (<i>p</i> < 0.05). No statistically significant difference was observed in fetal pulmonary artery Doppler parameters (<i>p</i> < 0.05) when gestational diabetes mellitus cases were classified based on the utilization of diet and insulin for blood sugar regulation. The pulmonary artery Doppler parameters in fetuses of pregnant women with gestational diabetes mellitus and controlled blood sugar levels are comparable to those of healthy controls. Moreover, dietary habits and insulin administration for glycemic control did not alter pulmonary artery Doppler metrics. The findings suggest that well-managed gestational diabetes mellitus, irrespective of the treatment modality, do not substantially influence the fetal pulmonary artery dynamics.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives 人类颅底与面部畸形的形态学关系：挑战与未来展望

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-07-09 DOI: 10.1111/cga.70015

Natsuko Utsunomiya, Motoki Katsube, Masanori Kumakiri, Naoki Morimoto, Shigehito Yamada

{"title":"Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives","authors":"Natsuko Utsunomiya, Motoki Katsube, Masanori Kumakiri, Naoki Morimoto, Shigehito Yamada","doi":"10.1111/cga.70015","DOIUrl":"https://doi.org/10.1111/cga.70015","url":null,"abstract":"<p>The cranial base (CB) and facial skeleton, despite differing in function and origin, are developmentally related. However, the mechanisms underlying the structural connection remain poorly understood. This article reviews CB malformations in congenital facial anomalies to identify the morphological basis for the relationship between these regions. Various types of CB deformities were identified in each facial anomaly; however, even anomalies with similar facial features did not necessarily share the same CB deformity, indicating that the underlying mechanisms exhibit complex interactions. To elucidate the biological processes related to these morphological interactions, detailed craniofacial geometry should be analyzed while retaining as much quantitative shape information as possible. Geometric morphometrics (GM) is an effective method for craniofacial studies because it analyzes shapes using landmark coordinates to retain relative geometric information, and it can be applied to complex shapes, such as curvatures or processes. Therefore, the application of GM in previous craniofacial studies is also reviewed. Quantitative data on normal and abnormal craniofacial development, encompassing both the prenatal and postnatal periods from GM studies, may provide valuable insight into the pathogenesis of congenital craniofacial anomalies.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144582138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0