Congenital Anomalies最新文献

Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low-risk and screening naïve Indian antenatal women 重访超声软标记非整倍体：在低风险和筛选naïve印度产前妇女深思熟虑的分析

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-05-29 DOI: 10.1111/cga.70011

Shreya Das, Charu Sharma, Taruna Yadav, Shashank Shekhar, Pratibha Singh, Garima Yadav, Dolat Singh Shekhawat, Kuldeep Singh, Manisha Jhirwal, Manoj Kumar Gupta

{"title":"Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low-risk and screening naïve Indian antenatal women","authors":"Shreya Das, Charu Sharma, Taruna Yadav, Shashank Shekhar, Pratibha Singh, Garima Yadav, Dolat Singh Shekhawat, Kuldeep Singh, Manisha Jhirwal, Manoj Kumar Gupta","doi":"10.1111/cga.70011","DOIUrl":"https://doi.org/10.1111/cga.70011","url":null,"abstract":"This study aimed to assess the prevalence of soft markers on second-trimester sonography in low-risk and screening naïve Indian antenatal women and determine their association with aneuploidy. Soft markers were evaluated through ultrasound, and likelihood ratios (LRs) and modified risk (MR) for aneuploidy were calculated. Pregnant women with a MR >1:250 underwent genetic counseling and invasive testing, whereas those with a lower risk received follow-up. Associations were estimated via Fisher's exact test. A total of 4051 anomaly scans were reviewed, among which 207 (5.1%) women were found to have soft markers (SMs). These included 153 (3.7%) isolated SMs, 43 (1.06%) multiple SMs, and 11 (0.2%) SMs with structural abnormalities. The most common SM was renal pyelectasis. Invasive test uptake increased by 25% among pregnancies with isolated markers and by 55% for those with multiple SMs. A significant association was found between isolated short femur and aneuploidy (p = 0.026), and between multiple SMs and aneuploidy (p = 0.039). Soft markers in low-risk couples can lead to unnecessary invasive testing and anxiety. Genetic counseling is important for discussing relevant factors. Invasive testing for aneuploidies should be based on the modified risk, the presence of multiple SMs, or structural anomalies on ultrasonography.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144171779","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

Using the modified OSA-questionnaire to determine the prevalence of a high risk of severe obstructive sleep apnea in children with Down syndrome 采用改进的osa问卷调查唐氏综合征患儿重度阻塞性睡眠呼吸暂停高危患病率

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-04-28 DOI: 10.1111/cga.70010

Vannipa Vathanophas, Chotmanee Panpapai, Archwin Tanphaichitr, Wish Banhiran

{"title":"Using the modified OSA-questionnaire to determine the prevalence of a high risk of severe obstructive sleep apnea in children with Down syndrome","authors":"Vannipa Vathanophas, Chotmanee Panpapai, Archwin Tanphaichitr, Wish Banhiran","doi":"10.1111/cga.70010","DOIUrl":"https://doi.org/10.1111/cga.70010","url":null,"abstract":"Children with Down syndrome often experience obstructive sleep apnea (OSA), which can be severe and, if untreated, leads to serious complications. Polysomnography, the gold standard for diagnosing OSA, has long waiting lists and poses challenges for these children. The modified OSA-18 questionnaire may help determine the severity of OSA in this population, facilitating the study of its prevalence and risk factors. A cohort of 180 children with Down syndrome, aged 2–12 years, was enrolled from August 2020 to January 2022. Participants completed the modified OSA-18 questionnaire, where a score of 21+ indicated a high risk of severe OSA. Demographic data, prevalence, and associated risk variables were analyzed. A total of 180 participants were included. Their mean age was 8.9 ± 2.8 years, and a slight majority were male (52.2%). Most had normal weight (44.4%); 33.9% were overweight, and 21.7% had obesity. The prevalence of those at high risk for severe OSA was 19.4%. The only significant risk factor for severe OSA was obesity (p < 0.001; OR = 6.96; 95% CI = 2.65–18.28). The study found a lower prevalence of high-risk severe OSA in children than reported by polysomnography-based studies, with obesity as the sole risk factor. The research confirmed that the modified OSA-18 questionnaire is a more convenient and quicker assessment tool. Prompt assessment of obese children with Down syndrome for severe OSA is crucial to prevent sequelae.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143879899","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

Improvement of speech function in submucous cleft palate through conservative treatment 黏膜下腭裂保守治疗对言语功能的改善

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-04-15 DOI: 10.1111/cga.70009

Nagana Natsume, Hideto Imura, Junko Akashi, Toko Hayakawa, Chisako Inoue, Tomoko Mori, Teruyuki Niimi, Hiroo Furukawa, Nagato Natsume

{"title":"Improvement of speech function in submucous cleft palate through conservative treatment","authors":"Nagana Natsume, Hideto Imura, Junko Akashi, Toko Hayakawa, Chisako Inoue, Tomoko Mori, Teruyuki Niimi, Hiroo Furukawa, Nagato Natsume","doi":"10.1111/cga.70009","DOIUrl":"https://doi.org/10.1111/cga.70009","url":null,"abstract":"Submucous cleft palate (SMCP) is a type of cleft lip and/or palate that is often diagnosed based on speech symptoms caused by velopharyngeal insufficiency and is frequently accompanied by complications. Although both surgery and speech therapy are treatment options, reports vary according to appropriate timing and suitability. At our hospital, patients who opted against surgery underwent speech therapy with positive results. This study aimed to evaluate the progression of velopharyngeal function (VPF) over time in non-operated patients with SMCP to formulate a new treatment approach. Fifty-three patients with SMCP who underwent VPF evaluation and over 1 year of speech therapy at the Cleft Lip and Palate Center of Aichi Gakuin University Dental Hospital between 2002 and 2022 were included. The patients were classified into with-complications and without-complications groups, and data on VPF evaluation, therapy duration, and progress were collected. Twenty patients experienced complications, while 33 did not. In the without-complications group, a significant improvement in VPF was observed after speech therapy. At the lowest VPF, five patients required surgery, but by the final evaluation, all patients experienced improvements, with no case of “poor.” Conservative treatment through long-term speech therapy demonstrated significant improvement in velopharyngeal function for non-complicated SMCP cases, suggesting it as a viable alternative to surgery in selected patients. This study highlights the clinical relevance of conservative speech therapy as a cost-effective, accessible alternative to surgery, particularly in resource-limited settings, offering comparable outcomes in non-complicated SMCP cases and potentially reducing healthcare burdens.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143831403","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

A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan 在阿塞拜疆重症监护病房先天性异常结构分析的队列研究

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-04-13 DOI: 10.1111/cga.70007

Narmin Akif Azizova, Ismayil Gafarov, Omer Erdeve

{"title":"A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan","authors":"Narmin Akif Azizova, Ismayil Gafarov, Omer Erdeve","doi":"10.1111/cga.70007","DOIUrl":"https://doi.org/10.1111/cga.70007","url":null,"abstract":"Congenital anomalies pose significant challenges in medicine due to their high morbidity and mortality rates. These anomalies are more prevalent in low- and middle-income countries, where variations exist in intensive care admissions and treatment protocols for critical cases. Our study aimed to investigate the prevalence of congenital anomalies among patients under the age of one admitted to the level III intensive care unit. The study focused on diagnosing anomalies, reasons for intensive care admission, structural analysis, classification based on system involvement, surgical requirements, duration of intensive care stay, and treatment outcomes. A total of 8276 patients were admitted to the intensive care unit of our Pediatric Research Institute between 2019 and 2022. Among them, 1256 patients (15.2%) were diagnosed with congenital anomalies. The majority of infants (73.3%) were admitted within the neonatal period, whereas 21.2% were admitted from 29 days to 6 months and 5.5% between 6 months and 1 year of age. Ultimately, 1084 (86.3%) patients survived, and 172 (13.7%) patients died. Structural analysis of congenital anomalies in a tertiary intensive care unit in Azerbaijan indicated comparable frequencies of anomalies, surgical requirements, and mortality rates to those published in articles from developed countries. Additionally, differences in anomaly distribution among organ systems were observed, with congenital heart defects being more prevalent.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143826803","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

The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia 新生儿多指畸形的患病率和特点：沙特阿拉伯两家三级医院的回顾性研究

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-03-30 DOI: 10.1111/cga.70008

Munirah Batarfi, Sultan Alqasim, Ibrahim Alanazie, Ahmed Alkohlani, Abdulrahman Almousa, Fahaad Alsehly, Abdullah Alqurashi, Bader Khawaji, Akeel Alali, Abdulrahman S. Alraddadi

{"title":"The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia","authors":"Munirah Batarfi, Sultan Alqasim, Ibrahim Alanazie, Ahmed Alkohlani, Abdulrahman Almousa, Fahaad Alsehly, Abdullah Alqurashi, Bader Khawaji, Akeel Alali, Abdulrahman S. Alraddadi","doi":"10.1111/cga.70008","DOIUrl":"https://doi.org/10.1111/cga.70008","url":null,"abstract":"Polydactyly is a congenital anomaly characterized by additional fingers and/or toes, with varying prevalence rates and characteristics across different populations. The current study investigated polydactyly's prevalence and characteristics between January 2015 and December 2022 retrospectively at two tertiary hospitals, one in Riyadh and one in Jeddah, Saudi Arabia. Data on the type and location of polydactyly, together with associated anomalies, were examined. The study identified 176 cases of polydactyly, with the majority (77%) in Riyadh. The average diagnosis was at age 8.9 months; there was a notable male predominance (57%). Over the 8 years examined, the polydactyly prevalence rate among 95 452 Saudi neonates was 97 per 10 000 live births. The occurrence was greater in the upper (49%) than in the lower limbs (33%). Unilateral cases were seen in 47% of hands and 23% of feet, and bilateral cases in 26% of hands and 22% of feet. In addition, the most prevalent form of polydactyly in both hands and feet was postaxial, observed in 34% and 30%, respectively. In contrast, the preaxial type was observed in 15% of hands and 3% of feet. Family history, additional anomalies, and other health conditions were noted in 10%, 45%, and 34% of cases, respectively. The higher occurrence of polydactyly in the hands and its predominant unilateral manifestation, together with its association with familial patterns and specific syndromes, emphasizes the potential interplay between genetic and environmental factors.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741144","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

Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant hnrnpu相关神经发育障碍与一种新的无意义变异相关的个体的严重咽狭窄和喉软化

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-02-18 DOI: 10.1111/cga.70006

Yusuke Sasaki, Hiroaki Murakami, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Syunsuke Nagara, Toshinari Koyama, Kunihiro Matsunami, Tatsuya Sakashita, Hideo Kaneko, Kyoko Morimoto, Atsushi Imamura, Kenji Kurosawa

{"title":"Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant","authors":"Yusuke Sasaki, Hiroaki Murakami, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Syunsuke Nagara, Toshinari Koyama, Kunihiro Matsunami, Tatsuya Sakashita, Hideo Kaneko, Kyoko Morimoto, Atsushi Imamura, Kenji Kurosawa","doi":"10.1111/cga.70006","DOIUrl":"https://doi.org/10.1111/cga.70006","url":null,"abstract":"Heterozygous loss-of-function variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) cause early-onset developmental and epileptic encephalopathy with multiple congenital anomalies. Limited clinical information is currently available on HNRNPU-related neurodevelopmental disorder. The patient was a 1-year-old Japanese girl with developmental delay, hypotonia, early-onset epilepsy, respiratory distress, and distinctive facial features, including ptosis, epicanthus, a prominent nasal bridge, a wide nasal floor, a cleft soft palate, and micrognathia. Respiratory distress was caused by pharyngeal stenosis and laryngomalacia, which gradually worsened, necessitating a scheduled tracheostomy at 1 year and 7 months of age. We performed whole-exome sequencing and identified a novel de novo nonsense variant in HNRNPU. We herein describe the first case of HNRNPU-related neurodevelopmental disorder with severe airway anomalies and a novel nonsense variant, thereby expanding the phenotypic spectrum","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439193","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

Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice 母藤对A/J小鼠妊娠丢失及腭裂发生率预防作用的实验研究。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-01-23 DOI: 10.1111/cga.70005

Anar-Erdene Gantugs, Teruyuki Niimi, Makoto Inoue, Ichinnorov Chimedtseren, Chisato Sakuma, Nagana Natsume, Ken Kitagawa, Masaaki Ito, Ajnai Luvsan-Ish, Hideto Imura, Hiroo Furukawa, Nagato Natsume

{"title":"Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice","authors":"Anar-Erdene Gantugs, Teruyuki Niimi, Makoto Inoue, Ichinnorov Chimedtseren, Chisato Sakuma, Nagana Natsume, Ken Kitagawa, Masaaki Ito, Ajnai Luvsan-Ish, Hideto Imura, Hiroo Furukawa, Nagato Natsume","doi":"10.1111/cga.70005","DOIUrl":"10.1111/cga.70005","url":null,"abstract":"Pregnancy loss is a significant concern worldwide, encompassing miscarriage and stillbirth. Miscarriage, defined as the loss of a baby before 28 weeks of gestation, accounts for approximately 15% of pregnancies. Stillbirth, occurring at or after 28 weeks of gestation, affects nearly 2.0 million pregnancies annually, predominantly in low- and middle-income regions. This study aims to investigate the potential of Anemarrhena rhizome (AR) herbal medicine in mitigating pregnancy loss and reducing the incidence of cleft palate in A/J mice models. A total of 390 6-week-old A/J mice were used for the study. Three different dosages of dried AR (6, 12, and 18 g) were boiled to prepare water extracts. The mice were divided into experimental groups receiving these extracts and a control group. Pregnancy outcomes, including fetal mortality rates and incidence of cleft palate, were assessed. The experimental groups receiving AR herbal medicine demonstrated significantly lower fetal mortality rates compared to the control group. Additionally, the incidence of cleft palate was notably reduced in the experimental groups, with the AR 6 g and AR 12 g groups showing significant reductions compared to the control group. AR herbal medicine shows promise in mitigating pregnancy loss and reducing the incidence of cleft palate in A/J mice models. These findings suggest the potential of AR as a therapeutic agent for improving fetal health outcomes. Further research is warranted to elucidate the underlying mechanisms and optimize dosage strategies for maximizing its therapeutic benefits in pregnancy-related complications.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034387","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

Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia 先天性膈疝胎儿体重估计的准确性。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-01-08 DOI: 10.1111/cga.70003

Tomonori Sunakawa, Sota Iwatani, Seiji Yoshimoto

引用次数: 0

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination 胎儿尸检后1型嗜盐性发育不良的免疫组织化学研究。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-01-08 DOI: 10.1111/cga.70004

Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou

{"title":"An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination","authors":"Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou","doi":"10.1111/cga.70004","DOIUrl":"10.1111/cga.70004","url":null,"abstract":"The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels. Immunohistochemical analysis was conducted using specific markers, such as S100, CD34, CD117, glycophorin-C, and myeloperoxidase, to identify various hematopoietic and mesenchymal cell types. Furthermore, this report underscores the often-overlooked aspect of fetal hematopoiesis in cases diagnosed with TD-1, shedding light on the development of hematopoietic cells and their markers in various tissues, with a particular emphasis on the investigation of bone marrow foci in areas with incipient or no apparent ossification. Immunohistochemical identification of hematopoiesis also served as an indirect way to identify areas of incipient or abnormal ossification.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11710925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985630","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

Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review 特纳综合征与非镶嵌X染色体结构重排的核型和表型关联：系统综述。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2025-01-01 DOI: 10.1111/cga.70002

Miki Tanoshima, Reo Tanoshima, Hajime Takase, Daisuke Yamamoto, Shigeru Aoki, Hideya Sakakibara, Etsuko Miyagi

{"title":"Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review","authors":"Miki Tanoshima, Reo Tanoshima, Hajime Takase, Daisuke Yamamoto, Shigeru Aoki, Hideya Sakakibara, Etsuko Miyagi","doi":"10.1111/cga.70002","DOIUrl":"10.1111/cga.70002","url":null,"abstract":"Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non-mosaic X chromosome structural rearrangements. A systematic literature search was conducted using Medline and Embase classics plus Embase between 1947 and September 2023. A total of 487 Turner women with non-mosaic X chromosome structural rearrangements were included from the 69 studies. The prevalence of short stature was 72.4% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 80.1% in the short arm deletion group (del (Xp)), 75% in the del(X)(p22.3) group, 65.8% in the del(X)(p21) and del(X)(p22) group, and 37.5% (20%–66.7%) in the long arm deletion group (del(Xq)). The prevalence of ovarian dysfunction was 78.8% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 72.5% in the del (Xp) group, 27.6% in the del (X)(p22.3) group, 33.3% in the del (X)(p21) and del(X)(p22) group, and 94.6% in the del (Xq) group. The recognition of X chromosome breakpoints is useful in the management of Turner syndrome complications, since some phenotypes are unique depending on the deletion region. Ovarian dysfunction is significantly related to karyotype, so the identification of karyotypes in Turner syndrome is important for managing ovarian dysfunction and predicting future fertility.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916424","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