American Journal of Medical Genetics Part A最新文献_第5页

Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic. 唐氏综合征专科诊所痴呆筛查工具的使用。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-09 DOI: 10.1002/ajmg.a.64251

Stephanie L Santoro, Alexa Gozdiff Spognardi, Caroline Bregman, Clorinda Cottrell, Elizabeth Oey, Margaret Pulsifer, Brian G Skotko, Amy Torres, Nicolas M Oreskovic

{"title":"Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic.","authors":"Stephanie L Santoro, Alexa Gozdiff Spognardi, Caroline Bregman, Clorinda Cottrell, Elizabeth Oey, Margaret Pulsifer, Brian G Skotko, Amy Torres, Nicolas M Oreskovic","doi":"10.1002/ajmg.a.64251","DOIUrl":"https://doi.org/10.1002/ajmg.a.64251","url":null,"abstract":"To study the use of a dementia screening tool in our clinic cohort of adults with Down syndrome. To evaluate the functionality of the NTG-EDSD for Dementia as part of a dementia screening protocol for adults with Down syndrome, we conducted a cohort analysis of patients aged 40 and older followed at the Massachusetts General Hospital Down Syndrome Program, noting any clinical interpretation of dementia or mild cognitive impairment (MCI). From September 2023 to September 2024, 54 NTG-EDSD responses were collected. Of these, 14 patients had a clinical interpretation of dementia and/or MCI, and 40 did not have a clinical interpretation of either. Due to the lack of a defined cutoff for the NTG-EDSD, we evaluated the sensitivity and specificity of the NTG-EDSD across various scoring thresholds: ≥ 30, ≥ 20, ≥ 10, ≥ 5, ≥ 3, ≥ 2, and ≥ 1. Sensitivity decreased, and specificity increased as the threshold score rose. Lower thresholds (e.g., ≥ 1) captured all true positives but at the cost of many false positives, whereas higher thresholds (e.g., ≥ 20) improved specificity and positive predictive value, identifying fewer individuals overall but with greater diagnostic confidence. In a real-world clinical setting, the NTG-EDSD lacks sufficient accuracy as a stand-alone dementia screening tool for adults with Down syndrome but may still be useful for guiding caregiver conversations and identifying the need for further evaluation.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64251"},"PeriodicalIF":1.7,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145022627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO. 由ATP5PO纯合剪接变异引起的线粒体复合体V缺陷。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-06 DOI: 10.1002/ajmg.a.64239

Zainab Al Masseri, Laura Guilder, Michal Inbar-Feigenberg, Jessie Cameron, Siddika Venkatachalam, David Chitayat

{"title":"Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.","authors":"Zainab Al Masseri, Laura Guilder, Michal Inbar-Feigenberg, Jessie Cameron, Siddika Venkatachalam, David Chitayat","doi":"10.1002/ajmg.a.64239","DOIUrl":"https://doi.org/10.1002/ajmg.a.64239","url":null,"abstract":"Most complex V subunits are nuclear encoded and so far, were not found in association with recognized Mendelian disorders. ATP5PO is a candidate gene for complex V mitochondrial disease. It encodes the oligomycin sensitivity-conferring protein (OSCP), an essential component of the \"stalk\" region that links the F1 and F0 domains of the ATP synthase complex. We report a 4-month-old girl, born at 35 weeks' gestation to a consanguineous couple via cesarean section due to fetal growth restriction and antenatal echocardiographic findings of moderate biventricular hypertrophy. At birth, she required intubation, ventilation, and surfactant therapy. The patient experienced intermittent hyperlactatemia, apneic spells, encephalopathy, axial hypotonia, and abnormal neonatal reflexes. She passed away at 4 months of age, and whole-exome sequencing revealed a homozygous splice variant (c.87 + 3A > G; p?) in ATP5PO. This gene was reported as a candidate gene, where additional evidence is needed to establish whether there is a relationship between this gene variant and human disease. So far and to our best knowledge, only four cases with a pathogenic variant in this gene have been reported. Mitochondrial respiratory chain analysis performed on fibroblasts revealed reduced ATPase enzyme activity with approximately 35% of the mean enzyme activity observed in the control reference range, with a decreased enzyme activity ratio relative to citrate synthase. These results suggest that isolated complex V enzyme deficiency is associated with the homozygous VUS identified in the ATP5PO gene in this patient and provide further functional support that ATP5PO is involved in complex V assembly and function.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64239"},"PeriodicalIF":1.7,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145005708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Not Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang. 非艾伯特综合症：潘和杨最近的病例报告评论。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-06 DOI: 10.1002/ajmg.a.64247

Andrew O M Wilkie

引用次数: 0

Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease. 2年后改用Avalglucosidase Alfa治疗气道异常和多方面预后的显著改善：一名19岁男性诊断为晚发型庞贝病的评估

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-05 DOI: 10.1002/ajmg.a.64230

Chih-Hsuan Lu, Dau-Ming Niu, Yuh-Jing Yeou, Yen-Ling Chu, Wen-Jue Soong, Li-Zhen Chen, Yung-Hsiu Lu, Chia-Feng Yang

{"title":"Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease.","authors":"Chih-Hsuan Lu, Dau-Ming Niu, Yuh-Jing Yeou, Yen-Ling Chu, Wen-Jue Soong, Li-Zhen Chen, Yung-Hsiu Lu, Chia-Feng Yang","doi":"10.1002/ajmg.a.64230","DOIUrl":"https://doi.org/10.1002/ajmg.a.64230","url":null,"abstract":"Pompe disease (PD), a severe inherited metabolic myopathy caused by the deficiency of acid α-glucosidase (GAA), is characterized by progressive myopathy with reduced muscle strength, endurance, and respiratory insufficiency. The primary GAA deficiency treatment is enzyme replacement therapy (ERT) with alglucosidase alfa; however, its long-term efficacy seems to diminish with time. In 2021, a new ERT medication, avalglucosidase alfa, was approved for patients over 6 months of age with PD in Taiwan. This study presents the first real-world data focusing on improvements in airway abnormalities through a multifaceted analysis. A 19-year-old male patient was diagnosed with late-onset PD 6 years and 8 months ago and treated with alglucosidase alfa for 52 months before switching to avalglucosidase alfa for 28 months. Multifaceted clinical performance metrics, including airway abnormalities, were recorded using a flexible bronchoscope. The therapy switch improved airway abnormalities, as demonstrated by flexible bronchoscopy in polysomnography results, activity endurance, core muscle strength, body mass index, and disease-specific biomarkers, including creatine kinase, aspartate transaminase, and urinary glucose tetrasaccharide (Glc4) levels. This study highlights the potential benefits of avalglucosidase alfa in managing respiratory outcomes in patients with late-onset PD, suggesting its promising effects for long-term treatment.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64230"},"PeriodicalIF":1.7,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145005803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid-Enrolled Adults With Down Syndrome, 2011-2019. 2011-2019年参保成人唐氏综合征患者中阻塞性睡眠呼吸暂停的发生及其与阿尔茨海默氏痴呆的关系

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-03 DOI: 10.1002/ajmg.a.64241

Alianna Higgins, Salina Tewolde, Shayleigh D Page, Eric Rubenstein

{"title":"The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid-Enrolled Adults With Down Syndrome, 2011-2019.","authors":"Alianna Higgins, Salina Tewolde, Shayleigh D Page, Eric Rubenstein","doi":"10.1002/ajmg.a.64241","DOIUrl":"10.1002/ajmg.a.64241","url":null,"abstract":"Down syndrome is a condition caused by trisomy of chromosome 21 and is the most common genetic cause of intellectual disability. Due to distinct body and facial morphology, people with Down syndrome appear to be at increased risk for obstructive sleep apnea (OSA). Additionally, adults with Down syndrome are at increased risk for Alzheimer dementia at younger ages than the general population, and OSA has been identified as a risk factor for Alzheimer dementia in the general population. This study aims to explore the prevalence of diagnosed OSA, as well as the association between OSA and Alzheimer dementia, in adults with Down syndrome using Medicaid claims data from2011 to 2019. Of 118,539 adults with Down syndrome who met inclusion criteria, 23,785 had at least one OSA claim from2011 to 2019 (20.1%, 95% CI 19.8%-20.3%). After weighting for age, sex, dual enrollment, race, ethnicity, and region, adults with Down syndrome and OSA claims had 1.08 times the hazard of having a claim for Alzheimer dementia compared to those without OSA claims (95% CI 1.05-1.10). OSA is common in adults, and our findings have clinical implications for its evaluation and treatment in those with Down syndrome.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64241"},"PeriodicalIF":1.7,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12514760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis. 患有Bainbridge-Ropers综合征的两兄弟的言语和语言发展：小脑ASXL3假说的表型和生物信息学支持。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-02 DOI: 10.1002/ajmg.a.64240

Beate Peter, Pooja Aggarwal, Yookyung Kim, Laurel Bruce, Judith Klein-Seetharaman

{"title":"Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.","authors":"Beate Peter, Pooja Aggarwal, Yookyung Kim, Laurel Bruce, Judith Klein-Seetharaman","doi":"10.1002/ajmg.a.64240","DOIUrl":"https://doi.org/10.1002/ajmg.a.64240","url":null,"abstract":"Bainbridge-Ropers syndrome (BRPS) is a rare neurodevelopmental disorder caused by variants in the ASXL3 gene. Nearly all cases are de novo, representing widely varying ASXL3 genotypes. Commonly observed traits include feeding difficulties, global motor delays, hypotonia, intellectual disability, autism, seizures, and craniofacial and skeletal changes. Difficulty with verbal communication is present in all cases, yet speech and language characteristics have not been described closely. Here, we present two brothers with BRPS due to suspected parental germline mosaicism. Clinical histories were based on chart review, interviews with a parent, and direct observations. Despite identical genotypes, phenotypic expression varies in severity. Both children have developmental coordination disorder, consistent with cerebellar dysfunction. Child 1, age 11 years, has childhood apraxia of speech (CAS) and largely intact cognitive skills. He received specialized therapy focused on motor learning and communicates verbally. Child 2, age 8, has oral apraxia, intellectual disability, autism, and language disorder. He communicates using non-speaking means. Bioinformatic analyses show that ASXL3 belongs to a regulatory network with highest cerebellar expression up to postconception Week 24. This study contributes speech and language descriptions, illustrates phenotypic variability likely resulting from the transcriptional regulatory network interacting with environmental influences, and underscores the importance of therapies that take motor discoordination into account.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64240"},"PeriodicalIF":1.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sacroiliac Joint Involvement: An Underreported Complication of NF1. 骶髂关节受累：NF1的一个未被报道的并发症。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-29 DOI: 10.1002/ajmg.a.64238

Jenny P Garzon, Eva Dombi, Jonathan Samet, Maria P Silva, Carolyn R Raski, Michael Sawin, Carlos E Prada

{"title":"Sacroiliac Joint Involvement: An Underreported Complication of NF1.","authors":"Jenny P Garzon, Eva Dombi, Jonathan Samet, Maria P Silva, Carolyn R Raski, Michael Sawin, Carlos E Prada","doi":"10.1002/ajmg.a.64238","DOIUrl":"https://doi.org/10.1002/ajmg.a.64238","url":null,"abstract":"NF1-related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole-body magnetic resonance imaging (WB-MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann & Robert H. Lurie Children's Hospital of Chicago in collaboration with the National Institutes of Health. The four participants were aged 12, 17, 32, and 34 at the time of WB-MRI; three out of four were female. In cases 1 through 3, there was an underlying internal PN on the side of sacroiliac dysplasia. All cases were unilateral and intraarticular, and two involved subcutaneous tissue. The PNs were too small to measure in two cases. Among the measurable lesions, one was localized, and one was diffuse with extension into the lower extremity. The localized PN showed a 20% increase in size over a one-year follow-up period. In cases 1 through 3, no sequelae such as pain or fractures were observed during the follow-up period. Case 4 was referred for surgical evaluation due to persistent pain. Our findings highlight a potentially underreported developmental abnormality of the sacroiliac joint in individuals with NF1.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64238"},"PeriodicalIF":1.7,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient. 一种新的NUP188基因纯合剪接变异导致沙特患者的sandege - stefanova综合征。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-27 DOI: 10.1002/ajmg.a.64236

Faisal Almalki, Haifa Abdullah Alkorbi, Naglaa M Kamal, Mahmoud Elsaid El Naggar, Ibrahim Khaled Bahlak, Mohammed Saad Althobaiti, Alaaeddin Mohammed El Sayed El Zeky, Ahmed Mohamed Elmarghany Abdelkader, Haya Alruqi, Essa Alharbi, Jwaher Mesleh Althobiti

{"title":"A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.","authors":"Faisal Almalki, Haifa Abdullah Alkorbi, Naglaa M Kamal, Mahmoud Elsaid El Naggar, Ibrahim Khaled Bahlak, Mohammed Saad Althobaiti, Alaaeddin Mohammed El Sayed El Zeky, Ahmed Mohamed Elmarghany Abdelkader, Haya Alruqi, Essa Alharbi, Jwaher Mesleh Althobiti","doi":"10.1002/ajmg.a.64236","DOIUrl":"https://doi.org/10.1002/ajmg.a.64236","url":null,"abstract":"Sandestig-Stefanova syndrome (SANDSTEF) (OMIM: 618804) is a recently identified autosomal recessive disorder characterized by a complex phenotype affecting multiple organ systems. To date, only 10 cases have been reported in the literature. Here, we present a newly identified patient exhibiting a distinct clinical presentation, along with a novel homozygous splice variant in NUP188. The proband has multiple system involvement, including ophthalmology, central nervous system, skin, distinct facial features, congenital heart disease, and respiratory system; eventually, he passed away with respiratory failure. A novel splice variant was identified using ES (NM_015354.2c.1962-2A>C p.(?)). The variant was confirmed by Sanger sequencing and was found to segregate from the parents. RT-PCR analysis showed no detectable amplification in the proband, while parental samples displayed two bands, indicating carrier status. The identification of a novel pathogenic variant contributes to a deeper understanding of the molecular mechanisms underlying the disorder and expands its phenotypic spectrum.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64236"},"PeriodicalIF":1.7,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation. 并指缺失与常见的Apert FGFR2 S252W突变相关：临床报告和可能的分子解释

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-22 DOI: 10.1002/ajmg.a.64221

Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns-Jenkins, Greg James, Eleanor Hay, Andrew O M Wilkie, Louise C Wilson

{"title":"Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.","authors":"Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns-Jenkins, Greg James, Eleanor Hay, Andrew O M Wilkie, Louise C Wilson","doi":"10.1002/ajmg.a.64221","DOIUrl":"https://doi.org/10.1002/ajmg.a.64221","url":null,"abstract":"Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous 'mitten' syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p.(Ser252Trp) (S252W) or p.(Pro253Arg) (P253R). We report a patient with unicoronal craniosynostosis and near normal limbs, in whom we unexpectedly identified a heterozygous FGFR2 S252W variant. Her mother, who had no history suggestive of craniosynostosis and only mild brachydactyly, was also found to carry the variant. We discuss evidence that the presence of a second novel FGFR2 p.(Gly261Arg) missense variant, identified in cis in both patients, could explain the mild phenotype. A similar mechanism may be responsible for occasional reports of Pfeiffer syndrome associated with a common Apert genotype, for which no molecular mechanism has been elucidated previously. Our findings provide further insight into the mechanism of the severe syndactyly that is usually characteristic of Apert syndrome.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64221"},"PeriodicalIF":1.7,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epidemiologic Features of Preterm Birth Among Infants With Trisomy 21 in Texas, 1999-2018. 1999-2018年德克萨斯州21三体婴儿早产的流行病学特征

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-21 DOI: 10.1002/ajmg.a.64229

Fatima R Sheriff, Renata H Benjamin, Jenil Patel, Qian Xiao, Charles Shumate, Alejandra Fernandez, A J Agopian

{"title":"Epidemiologic Features of Preterm Birth Among Infants With Trisomy 21 in Texas, 1999-2018.","authors":"Fatima R Sheriff, Renata H Benjamin, Jenil Patel, Qian Xiao, Charles Shumate, Alejandra Fernandez, A J Agopian","doi":"10.1002/ajmg.a.64229","DOIUrl":"https://doi.org/10.1002/ajmg.a.64229","url":null,"abstract":"The rate of preterm birth among infants with trisomy 21 (22%) is around twice that among the general population (10%). We conducted a descriptive epidemiologic study to address the gap in knowledge on what maternal and infant factors are associated with preterm birth among infants with trisomy 21. Singleton infants with trisomy 21 born between 1999 and 2018 were identified from the Texas Birth Defects Registry. We used multivariable logistic regression to assess associations between preterm birth and 14 maternal and infant characteristics. Statistically significant associations were observed between preterm birth and maternal race/ethnicity, maternal age, maternal birthplace, prenatal care, smoking, infant sex, and infant delivery year. For instance, preterm birth was associated with maternal age (adjusted odds ratio [aOR] 1.44, 95% CI: 1.23-1.70 for ≥ 40 vs. 25-29 years) and prenatal care (aOR 1.59, 95% CI: 1.25-2.03 for no care versus any care). Our findings contribute toward a better understanding of the risk profile of preterm birth among infants with trisomy 21 and can guide further research on risk factors and potential interventions for reducing preterm birth rates in this population.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64229"},"PeriodicalIF":1.7,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0