Congenital Anomalies最新文献_第4页

Long-term follow-up for the atypical radial longitudinal deficiency: A case report 非典型桡骨纵向缺损的长期随访：病例报告。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-25 DOI: 10.1111/cga.12570

Hiroshi Satake, Ryuji Takeuchi, Yasushi Naganuma, Toshiya Nito, Naomi Hanaka, Junichiro Shibuya, Masahiro Maruyama, Ryusuke Honma, Michiaki Takagi

引用次数: 0

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia 与颅骨外胚层发育不良严重表型相关的 IFT122 新变体

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-18 DOI: 10.1111/cga.12569

Shiho Nagayama, Hironori Takahashi, Fuyuki Hasegawa, Asuka Hori, Sho Kizami, Rieko Furukawa, Kenji Horie, Manabu Ogoyama, Kenichiro Hata, Hiroyuki Fujiwara

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Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay 胎儿泌尿生殖系统畸形的超声和磁共振成像特征：图解文章

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-08 DOI: 10.1111/cga.12568

Behnaz Moradi, Mohammad Hossein Golezar, Reihaneh Mortazavi Ardestani, Sara Hassanzadeh, Payam Jannatdoust, Masoumeh Banihashemian, Nasim Batavani

引用次数: 0

Assisted reproduction and congenital malformations: A systematic review and meta-analysis 辅助生殖与先天性畸形：系统回顾和荟萃分析

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-05 DOI: 10.1111/cga.12561

Meenakshi Veeramani, Neerujah Balachandren, Yong Hwa Hong, Jiyoon Lee, Antonio F. Corno, Dimitrios Mavrelos, Stavroula L. Kastora

{"title":"Assisted reproduction and congenital malformations: A systematic review and meta-analysis","authors":"Meenakshi Veeramani, Neerujah Balachandren, Yong Hwa Hong, Jiyoon Lee, Antonio F. Corno, Dimitrios Mavrelos, Stavroula L. Kastora","doi":"10.1111/cga.12561","DOIUrl":"10.1111/cga.12561","url":null,"abstract":"Prior studies have explored the links between congenital anomalies and assisted reproduction techniques, among other factors. However, it remains unclear whether a particular technique harbors an inherent risk of major congenital anomalies, either cumulatively or in an organ-specific manner. A meta-analysis was conducted using relevant studies from inception to February 2023 using six databases and two appropriate registers. Sources of heterogeneity were explored using sub-group analysis, using study weight, risk of bias and geographical location of original studies. Neonates conceived through assisted reproduction appear to have a higher risk of major congenital anomalies compared to naturally conceived neonates, OR 0.67 [95% CI 0.59, 0.76], I2 = 97%, p < 0.00001, with neonates conceived through intracytoplasmic sperm injection (ICSI) at a 9% higher chance of being affected in comparison to neonates conceived through in vitro fertilization (IVF). The increase in cardiac, gastrointestinal (GI), and neurological congenital anomalies appears to be independent of the assisted reproduction technique, while urogenital and musculoskeletal (MSK) anomalies were found to be increased in ICSI compared with IVF, OR 0.83 [95% CI 0.69, 0.98]; p = 0.03, I2 = 0%, and OR 0.65 [95% CI 0.49, 0.85]; p = 0.002, I2 = 80%, respectively. Neonates conceived using assisted reproduction techniques appear to be at higher risk of major congenital anomalies, with a higher risk attributable to conception using ICSI. The increase in cardiac, neurological, and GI congenital anomalies does not appear to be technique-specific, while the opposite held true for urogenital and MSK anomalies.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 3","pages":"107-115"},"PeriodicalIF":1.3,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12561","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140573932","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

Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group-rearing environment 在群养环境中检测产前暴露于聚(I:C)的小鼠的异常行为。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-03-31 DOI: 10.1111/cga.12563

Munekazu Komada, Niina Kiriyama, Rei Sugiyama, Kazuma Harada, Norihito Kawashita

{"title":"Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group-rearing environment","authors":"Munekazu Komada, Niina Kiriyama, Rei Sugiyama, Kazuma Harada, Norihito Kawashita","doi":"10.1111/cga.12563","DOIUrl":"10.1111/cga.12563","url":null,"abstract":"During pregnancy, the maternal environment is critical for normal ontogeny and central nervous system development. Occasionally, prenatal exposure to environmental factors affects tissue architecture and functional development of the brain, which causes developmental disorders, including disorders of the autism spectrum. One of these environmental factors is the exposure to infectious diseases during pregnancy. In this study, we generated mice with infectious disease-induced inflammation by prenatal exposure to 200 μg/kg polyinosinic–polycytidylic acid sodium salt [Poly(I:C)] at embryonic day 12.5 and analyzed their phenotypes on 30-weeks-old. We attempted to detect abnormalities in spontaneous activity and social interaction, which may be indicators of developmental disorder-like behavioral abnormalities, in free-ranging behaviors in multiple rearing environments using multiple animal positioning systems and UMATracker in mice with fetal inflammation. Increased spontaneous activity and abnormal social interactions were observed in mice in the Poly(I:C)-treated group compared with those in the control group. Prenatal exposure to Poly(I:C) increased motor activity and decreased social interaction, and social behavior in prenatally treated mice in a multiple-individual rearing environment. Poly(I:C) exposure during the fetal period resulted in developmental disorder-like behavioral abnormalities, such as increased activity and abnormal social interactions, even after maturation in a multiple-individual rearing environment. This experimental method may provide a new way to analyze the behavior of mouse models of developmental disorders in a multiple-individual rearing environment, in which free-ranging behavior is possible.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 3","pages":"125-133"},"PeriodicalIF":1.3,"publicationDate":"2024-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140332377","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

Height difference between the right and left metanephroi during early human fetal development 人类胎儿早期发育过程中左右肾盂的高度差。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-03-27 DOI: 10.1111/cga.12565

Hana Ishiyama-Takara, Jun Matsubayashi, Shigehito Yamada, Tetsuya Takakuwa

引用次数: 0

Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan 日本罕见病种系格基因综合检测机构披露二次检测结果的困难。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-03-26 DOI: 10.1111/cga.12562

Kana Hiromoto, Takahiro Yamada, Mio Tsuchiya, Hiroshi Kawame, Eiji Nanba, Yuichi Goto, Shinji Kosugi

{"title":"Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan","authors":"Kana Hiromoto, Takahiro Yamada, Mio Tsuchiya, Hiroshi Kawame, Eiji Nanba, Yuichi Goto, Shinji Kosugi","doi":"10.1111/cga.12562","DOIUrl":"10.1111/cga.12562","url":null,"abstract":"In Japan, a limited number of laboratories perform comprehensive genetic testing for rare diseases; this study investigated the attitudes of these laboratories toward the disclosure of secondary finding (SF). Following a preliminary survey, we identified laboratories conducting comprehensive genetic testing for participation. Subsequently, an online survey involving 20 selected facilities was conducted. The response rate was 80% (16/20). Of the 14 facilities, 71.4% had SFs. While 42.9% of them had a policy to disclose SFs with clinical utility, only 14.3% actively searched for actionable variants that could be included in the American College of Medical Genetics and Genomics list. Japan was less enthusiastic than the USA regarding SF disclosure. With regard to the reasons for not disclosing SFs, the factors “the thought that participants may have a low desire for SFs” and “uncertainty regarding their wish” were considered more important than in the USA. A content analysis of what was sought as a solution to this difficulty revealed a need to improve databases on pathogenicity and actionability and collect public thoughts on the issue. The factor “to promote entry in research” was not considered a critical reason for disclosing SFs, indicating that the thirst for information was not possibly due to anxiety but rather due to scientific interest. Japanese medical professionals may not be confident that society requires the disclosure of SFs. To improve the environment, it is necessary to survey the public regarding their thoughts on SF disclosure and discuss this issue in society.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 3","pages":"116-124"},"PeriodicalIF":1.3,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289948","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

Patterns of primary and secondary defects associated with non-syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population 与非综合征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 1.3 4区医学

Congenital Anomalies Pub Date : 2024-03-26 DOI: 10.1111/cga.12564

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

{"title":"Patterns of primary and secondary defects associated with non-syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population","authors":"Martin Kamau, Krishan Sarna, Symon Guthua, Khushboo Jayant Sonigra, Paul Kimani","doi":"10.1111/cga.12564","DOIUrl":"10.1111/cga.12564","url":null,"abstract":"Cleft lip and palate deformities substantially burden individuals and families, particularly in low-income communities. However, a comprehensive understanding of the patterns and distribution of these deformities in Kenya remains limited. This retrospective cross-sectional study analyzed 647 clinical records from the BelaRisu Foundation registry in Kenya, spanning 2018–2022. After meticulous record verification and data extraction, cleft pattern modeling was used to analyze each case. Data were imported to SPSS version 29.0 and descriptive statistics were calculated, which included means, ranges, frequencies, percentages, and standard deviations. Additionally, a comparative analysis between genders was conducted. The findings revealed a higher average age of presentation compared with previous studies in Kenya, along with a greater susceptibility of males to cleft lip and palate defects overall. Noteworthy disparities in case distribution across provinces were observed. Cleft lip emerged as the most observed primary defect, while palatal fistulae constituted the most frequent secondary defect. Interestingly, while some results aligned with global trends, others diverged significantly from the existing literature, warranting further exploration and investigation. These findings shed light on the unique patterns and distribution of cleft lip and palate deformities in Kenya, highlighting the need for targeted interventions and support systems.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 3","pages":"134-142"},"PeriodicalIF":1.3,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289949","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

Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis 非综合征唇裂和腭裂患者的先天性心脏畸形：系统回顾和荟萃分析。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-03-26 DOI: 10.1111/cga.12567

Bindey Kumar, Priyankar Singh, Alok Ranjan, Tulika Singh, Nimmi Singh, Kriti, Swati Singh, Siddharth Singh, Navin Mishra, Arbind Kumar Sharma

{"title":"Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis","authors":"Bindey Kumar, Priyankar Singh, Alok Ranjan, Tulika Singh, Nimmi Singh,  Kriti, Swati Singh, Siddharth Singh, Navin Mishra, Arbind Kumar Sharma","doi":"10.1111/cga.12567","DOIUrl":"10.1111/cga.12567","url":null,"abstract":"The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non-specific of the association of orofacial cleft with CHD were excluded. Data extraction criteria were study design, frequency of CHD in overall non-syndromic orofacial cleft and in specific cleft type, and most prevalent congenital cardiac anomaly. DerSimonian Laird random effects model was used to estimate the pooled proportion of CHD, along with corresponding 95% confidence intervals (CIs) for each measure. Publication bias was assessed using Fail-Safe N analysis and the Rosenthel approach. Of a total of 182 articles searched, only 30 studies were assessed. The overall pooled estimate of the proportion of CHD in total cleft lips/palates was 16% (95% CI: 13–19). The odds of developing CHD in cleft palates was 4.08 times more as compared to cleft lips with 95% CIs of 3.86–4.33, and 1.65 more as compared to cleft lips and palates both with 95% CI of 1.52–1.68. We affirm the upsurging prevalence of CHD in non-syndromic cleft children and vehemently propose that it is of utmost importance to inculcate it in practice and policy-making to screen all non-syndromic orofacial cleft children for congenital cardiac anomaly. This study was registered on PROSPERO (ID no. CRD42023391597) on February 24, 2023.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 3","pages":"143-154"},"PeriodicalIF":1.3,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289947","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

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey 未确诊罕见病诊所在两姐妹安杰尔曼综合征患者中发现新型 UBE3A 变异：诊断奥德赛的终点。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-03-23 DOI: 10.1111/cga.12566

Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S. Murthy, Lili Mantcheva, Wilfredo Torres, Erin Conboy, Francesco Vetrini

{"title":"Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey","authors":"Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S. Murthy, Lili Mantcheva, Wilfredo Torres, Erin Conboy, Francesco Vetrini","doi":"10.1111/cga.12566","DOIUrl":"10.1111/cga.12566","url":null,"abstract":"Angelman syndrome (AS, MIM #105830) is a neurodevelopmental disorder characterized by severe intellectual disability, profound developmental delay, movement or balance problems, an excessively cheerful disposition, and seizures. AS results from inadequate expression of the maternal UBE3A gene (MIM #601623), which encodes an E3 ligase in the ubiquitin-proteasome pathway. Here we present the case of two sisters with features consistent with AS who had negative methylation analyses. An autism/intellectual disability expanded panel revealed a maternally inherited novel UBE3A (NM_001354506.2) variant c.2443C>T p.(Pro815Ser) in both patients that was initially classified as a variant of uncertain significance. The patients were enrolled in Indiana University's Undiagnosed Rare Disease Clinic (URDC) to further investigate the variant. Additional data, including deep phenotyping, familial segregation analysis, and in silico studies, suggest that the variant is likely pathogenic. 3D modeling studies based on the available crystal structure revealed that the Pro815Ser variant can introduce more flexibility into the protein and alter its enzymatic activity. Recent literature confirms the pathogenic nature of the variant. Reanalysis of the UBE3A variant has heightened existing knowledge of AS and has offered this family an end to their diagnostic odyssey.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 3","pages":"155-160"},"PeriodicalIF":1.3,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12566","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140195332","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