Prenatal Diagnosis最新文献

{"title":"Challenges in Identifying the Cause of Fetal Sinus Bradycardia: Coexistence of Maternal Anti-SSA Antibodies and Holt-Oram Syndrome Due to a Novel TBX5 Variant.","authors":"Xiaohui Dai, Shuran Shao, Fuping Yue, Jiao Chen, Hong Luo, Ju Gao, Yu Wang, Chuan Wang","doi":"10.1002/pd.6770","DOIUrl":"https://doi.org/10.1002/pd.6770","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice.","authors":"Lilian Downie, Sebastian Lunke, Zornitza Stark","doi":"10.1002/pd.6771","DOIUrl":"10.1002/pd.6771","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses.","authors":"Sylvie Langlois, Lyn S Chitty","doi":"10.1002/pd.6766","DOIUrl":"https://doi.org/10.1002/pd.6766","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":"45 3","pages":"273-275"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perinatal Outcomes in Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End-Diastolic Umbilical Artery Flow Compared to Selective Fetal Growth Restriction Type III.","authors":"Elizabeth Schlant, Abby Birk, Ahmet Baschat, Michelle Kush, Lindsey Goodman, Sarah Olson, Kristin Voegtline, Jena Miller, Mara Rosner","doi":"10.1002/pd.6717","DOIUrl":"10.1002/pd.6717","url":null,"abstract":"<p><strong>Objectives: </strong>Umbilical artery Doppler intermittent absent and reversed end-diastolic flow (iAREDF) is associated with increased perinatal morbidity and mortality in monochorionic twins with selective fetal growth restriction. The clinical significance of umbilical artery iAREDF in appropriately grown monochorionic twins is not well described.</p><p><strong>Methods: </strong>This is a single-institution retrospective cohort study describing characteristics and outcomes of monochorionic diamniotic twins with appropriate for gestational age growth and umbilical artery iAREDF in comparison to monochorionic diamniotic twins with selective fetal growth restriction and iAREDF, or sFGR type III. The cohorts were compared for antenatal resolution of iAREDF, estimated gestational age at delivery, fetal and maternal complications, delivery characteristics, and survival outcomes.</p><p><strong>Results: </strong>Ten appropriately grown monochorionic diamniotic twin pairs with umbilical artery iAREDF and 23 with sFGR Type III delivered at a mean gestational age of 30.4 (± 5) weeks and 30.7 (± 4) weeks, respectively (p = 0.93). No significant differences were observed in the Doppler course (deterioration or improvement) prior to delivery, fetal or maternal complications, delivery characteristics (with the exception of the persistence of the growth differences), or survival outcomes between groups.</p><p><strong>Conclusions: </strong>Monochorionic diamniotic twins with intermittent absent and reversed end-diastolic umbilical artery velocity may be at increased risk for adverse perinatal outcomes even if criteria for selective fetal growth restriction are not met.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"387-395"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?","authors":"Xinyu Fu, Yanjie Xia, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Jingqi Zhu, Huanyun Li, Shitong Wu, Di Wu, Xiangdong Kong","doi":"10.1002/pd.6747","DOIUrl":"10.1002/pd.6747","url":null,"abstract":"<p><strong>Background: </strong>Congenital adrenal hyperplasia (CAH) is a common metabolic genetic disease. Early diagnosis and intervention are crucial to improve the prognosis. Noninvasive prenatal diagnosis (NIPD) is an early, safe, and accurate method. This study aimed to evaluate the NIPD of CAH while guiding individualized intrauterine treatment.</p><p><strong>Methods: </strong>Twenty families with a 25% risk of having a baby with 21-hydroxylase deficiency (21-OHD) were included. Haplotypes were constructed based on targeted sequencing and family linkage analysis. Relative haplotype dosage (RHDO) combined with Bayes factor was used to infer fetal genotypes. Invasive prenatal diagnosis was performed to verify the reliability of NIPD. For affected-female fetuses, intrauterine treatment was applied until delivery.</p><p><strong>Results: </strong>In 20 families, NIPD successfully identified one female-affected fetus, four male-affected fetuses, nine heterozygotes, and five normal fetuses. The first-pass success rate of NIPD was 90% (18/20), the reporting rate was 95% (19/20), and the accuracy was 100% (19/19). Individualized intrauterine treatment avoided 88.9% (8/9) of unnecessary treatment of unaffected female fetuses. Moreover, no significant virilization was observed in the newborn of CAH16, which underwent intrauterine treatment.</p><p><strong>Conclusion: </strong>NIPD has far-reaching implications for the early treatment and clinical management of pregnancy in families with 21-OHD.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"423-432"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low-Coverage Whole-Genome Sequencing-Based NIPT.","authors":"Priit Paluoja, Tatjana Jatsenko, Hindrek Teder, Kaarel Krjutškov, Joris Robert Vermeesch, Andres Salumets, Priit Palta","doi":"10.1002/pd.6758","DOIUrl":"10.1002/pd.6758","url":null,"abstract":"<p><strong>Objective: </strong>Clinically pathogenic chromosomal microdeletions cause severe genetic disorders. Motivated by the absence of reliable screening of microdeletions during the first-trimester screening, we developed BinDel, a software tool to determine the risk of clinically relevant pathogenic fetal microdeletions from low-coverage whole-genome-sequencing (WGS) based NIPT data.</p><p><strong>Methods: </strong>We developed novel computational software that employs a targeted approach with region-specific normalisation and calling procedures to detect microdeletion risk in predefined chromosomal regions. The software was developed using 500 NIPT samples and validated on an additional 84 samples, including 34 rare fetal microdeletions confirmed both pre- and postnatally.</p><p><strong>Results: </strong>BinDel correctly identified 30 out of 34 samples with microdeletions, with only three false-positive calls among 50 euploid samples, all latter originating from the Williams-Beuren and Prader-Willi/Angelman syndrome-associated microdeletion regions.</p><p><strong>Conclusions: </strong>We confirmed BinDel's feasibility for integrating microdeletion analysis into routine NIPT protocol. This work stands as a unique contribution to prenatal microdeletion screening, providing a novel and readily available software tool that was validated with a large set of actual microdeletion samples, positioning it as the first of its kind in the field. BinDel is available at https://github.com/seqinfo/BinDel.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"352-361"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.","authors":"Natalie Chandler, Muriel Holder-Espinasse, Fionnuala Mone","doi":"10.1002/pd.6687","DOIUrl":"10.1002/pd.6687","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"294-298"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings.","authors":"Claire Laporte, Jéléna Martinovic, Sophie Patrier, Briac Thierry, Imen Mediouni, Julien Saada, Marie Brasseur-Daudruy, Martin Etienne, Grégoire Dumery, Alexandra Benachi","doi":"10.1002/pd.6761","DOIUrl":"10.1002/pd.6761","url":null,"abstract":"<p><strong>Objective: </strong>To correlate ultrasound findings with fetoscopy and pathology data in patients with suspected congenital high airway obstruction syndrome (CHAOS) to improve prenatal diagnosis and management.</p><p><strong>Method: </strong>This study included five consecutive patients suspected of having CHAOS. Prenatal ultrasound was performed to identify key features such as bilateral hyperechoic lungs, eversion of the diaphragm, and visible airways. Fetoscopy was conducted in three patients to assess the vocal cords and upper airways. Pathological analysis was also used to confirm the diagnosis.</p><p><strong>Results: </strong>All five patients showed bilateral hyperechoic lungs, eversion of the diaphragm, and visible airways on ultrasound. An obstructive block was seen in all cases and the vocal cords were not visualized in three cases, abnormal in one case and not mentioned in one case. Fetoscopy confirmed vocal cord fusion or absence and complete laryngeal atresia in three patients. All pregnancies were terminated; therefore, medium-term complications of fetoscopy could not be assessed.</p><p><strong>Conclusion: </strong>Accurate prenatal ultrasound imaging is essential for diagnosing CHAOS and determining prognosis. While ultrasound is the first-line test to assess the condition and guide management, fetoscopy should only be proposed when ultrasound findings are inconclusive. The diagnostic and therapeutic value of fetoscopy is limited to cases with nonvisible vocal cords and obstructive laryngeal block.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"433-438"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterizing the In Utero Phenome of the Chiari II Malformation-A Network Medicine Approach, Using Fetal MRI.","authors":"Hui Shi, Daniela Prayer, Joel Leinkauf, Johannes Tischer, Xu Li, Patric Kienast, Farjad Khalaveh, Julia Binder, Gregor Kasprian","doi":"10.1002/pd.6741","DOIUrl":"10.1002/pd.6741","url":null,"abstract":"<p><strong>Objective: </strong>To apply a network medicine-based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co-occurrences.</p><p><strong>Method: </strong>A single-center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed. Co-occurrence analysis was utilized to generate a phenotypic comorbidity matrix and visualized by Gephi software. Traditional univariate regression and geometric thin-plate spline methodology were used to elucidate the mechanisms underlying the relationships between morphometric measurements and geometric landmarks of the spine, skull, and brain deformations.</p><p><strong>Results: </strong>The CM II phenome consists of 35 nodes interconnected by 979 edges with a density of 0.828. Key \"hubs\" identified within this network include spinal bony defects, reduced posterior fossa dimensions, and vermis ectopia. The brain edema phenotype appearing only in the fetal stage but disappearing after postnatal surgery, links to increased postnatal morbidity and demonstrates distinct shape patterns by geometric analysis. Traditional univariate regression reveals correlations among spinal defects, posterior fossa dimensions, and caudal extent of vermis ectopia. The degree of brain rearrangement versus spinal bony rearrangement shows a correlation (r = 0.721, p = 0.0023) by partial least-squares analysis.</p><p><strong>Conclusion: </strong>The CM II prenatal phenome is a multifaceted network centered around three key elements-spinal bony defects, small posterior fossa, and vermis ectopia-with strong interconnections. Fetal brain edema emerged as an exclusively prenatally detectable and transient phenotype of prognostic relevance.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"362-373"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing Small-for-Gestational-Age Prediction: Multi-Country Validation of Nuchal Thickness, Estimated Fetal Weight, and Machine Learning Models.","authors":"Jiaxuan Deng, Neha Sethi A/P Naresh Sethi, Azanna Ahmad Kamar, Rahmah Saaid, Chu Kiong Loo, Citra Nurfarah Zaini Mattar, Nurul Syazwani Jalil, Shier Nee Saw","doi":"10.1002/pd.6748","DOIUrl":"10.1002/pd.6748","url":null,"abstract":"<p><strong>Objective: </strong>The first objective is to develop a nuchal thickness reference chart. The second objective is to compare rule-based algorithms and machine learning models in predicting small-for-gestational-age infants.</p><p><strong>Method: </strong>This retrospective study involved singleton pregnancies at University Malaya Medical Centre, Malaysia, developed a nuchal thickness chart and evaluated its predictive value for small-for-gestational-age using Malaysian and Singapore cohorts. Predictive performance using conjunctive (AND)/disjunctive (OR) rule-based algorithms was assessed. Seven machine learning models were trained on Malaysia data and evaluated on both Malaysia and Singapore cohorts.</p><p><strong>Results: </strong>5519 samples were collected from the University Malaya Medical Centre. Small-for-gestational-age infants exhibit significantly lower nuchal thickness (small-for-gestational-age: 4.57 [1.04] mm, appropriate-for-gestational-age: 4.86 [1.06] mm, p < 0.001). Implementing disjunctive rule (nuchal thickness < 10th centile or estimated fetal weight < 10th centile) significantly improved small-for-gestational-age prediction across all growth charts, with balanced accuracy gains of 5.83% in Malaysia (p < 0.05) and 7.75% in Singapore. The best model for predicting small-for-gestational-age was: logistic regression with five variables (abdominal circumference, femur length, nuchal thickness, maternal age, and ultrasound-confirmed gestational age), which achieved an area under the curve of 0.75 for Malaysia cohorts; support vector machine with all variables, achieved area under the curve of 0.81 for Singapore cohorts.</p><p><strong>Conclusions: </strong>Small-for-gestational-age infants demonstrate significantly reduced second-trimester nuchal thickness. Employing the disjunctive rule enhanced small-for-gestational-age prediction. Logistic regression and support vector machines show superior performance among all models, highlighting the advantages of machine learning. Larger prospective studies are needed to assess clinical utility.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"374-386"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}