Prenatal Diagnosis最新文献

{"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":"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":"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":"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":"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}

{"title":"Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.","authors":"Irene Mademont-Soler, Neus Castells-Sarret, Adela Cisneros, Laura Foj, Clara Benavent-Bofill, Mar Xunclà, Marina Viñas-Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López-Ortega, María Obón, Alberto Plaja","doi":"10.1002/pd.6746","DOIUrl":"10.1002/pd.6746","url":null,"abstract":"<p><strong>Objective: </strong>The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).</p><p><strong>Method: </strong>A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.</p><p><strong>Results: </strong>A total of 69 IFs were identified in 68 samples, revealing a detection rate of 1.6%. They included: 5 CNVs associated with neurodevelopmental disorders and/or congenital defects with complete penetrance, 41 CNVs for neurodevelopmental disorders and/or congenital defects with incomplete penetrance, 4 disorders that can potentially be prevented or treated, 5 non-childhood onset neurological disorders, 13 X-linked disorders (mainly STS and DMD deletions), and 1 deletion of the SHOX gene. Long-term follow-up revealed that newborns with high penetrance neurosusceptibility CNVs exhibited clinical manifestations more frequently than those with low penetrance CNVs. At the time of reporting, 52 IFs were disclosed, while 17 were not. According to the new consensus criteria, 43 IFs would now be reported, 17 would not, and 9 would depend on parental decision. CNVs consistent with the referral reason were identified in 4% of cases.</p><p><strong>Conclusion: </strong>This study represents the largest series rigorously documenting all identified IFs in consecutive pregnancies evaluated by microarray, including both reported and unreported findings. IFs were found at a higher frequency than previously recognized, underscoring the need for specific clinical attention. Comprehensive consensus reporting recommendations were developed to ensure uniformity of criteria, and an ad hoc committee was established to manage complex cases.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"326-347"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010325","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":"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":"Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.","authors":"Natalie Burrill, Erica Schindewolf, Lisa Pilchman, Renee Wright, Haley Crane, Juliana Gebb, Nahla Khalek, Shelly Soni, Christina Paidas Teefey, Edward R Oliver, Rebecca Linn, Julie S Moldenhauer","doi":"10.1002/pd.6735","DOIUrl":"10.1002/pd.6735","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.</p><p><strong>Methods: </strong>A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.</p><p><strong>Results: </strong>The overall ES diagnostic rate was 34.3%. The rate of diagnosis was 31.6% in fetuses with a single anomaly and 42.6% in fetuses with 4 or more major organ systems involved. Of the fetuses with a single anomaly, lymphatic, craniofacial, skeletal, and neurological anomalies had the highest diagnostic rate on ES. 38.6% of deceased fetuses who underwent autopsy had a genetic diagnosis. Additionally, families who had a previously affected child had a 45.5% diagnostic rate.</p><p><strong>Conclusions: </strong>ES is an important tool that should be offered in pregnancies affected with congenital abnormalities or at the time of fetal demise or termination. The diagnostic rate of ES in the prenatal setting is also highly dependent on comprehensive phenotyping. With diagnostic ES results, reproductive technology and testing options are available in subsequent pregnancies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"310-317"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915371","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":"Outcomes of Intrauterine Interventions in Twin Reversed Arterial Perfusion (TRAP) Sequence: A Systematic Review of the Literature Over the Past 35 Years.","authors":"Gabriele Tonni, Roberta Granese, Giosuè Giordano Incognito, Gianpaolo Grisolia, Mario Lituania, Waldo Sepulveda, Valter Lacerda de Andrade, Rodrigo Ruano","doi":"10.1002/pd.6725","DOIUrl":"10.1002/pd.6725","url":null,"abstract":"<p><p>Twin reversed arterial perfusion (TRAP) sequence is an uncommon disease affecting monochorionic twin pregnancies. The diagnosis can be made by ultrasound allowing to plan optimal antenatal management. An electronic search was conducted from inception to July 2024 to systematically evaluate and compare the outcomes of different intrauterine interventions in this condition. Eighty-two studies were included, and 859 women with a prenatal ultrasound diagnosis of TRAP sequence with a total of 1763 fetuses were studied. The mean maternal age was 24.2 years (range 19-40) and the mean gestational age at diagnosis was 19.6 weeks (range 10-32). A total of 792 pregnancies were reported in which a fetal intervention was performed over the past 35 years. The mean gestational age at fetal intervention was 22.1 weeks (range 11-32). The two most frequent fetal interventions were radiofrequency ablation, performed in 293 cases and laser umbilical cord coagulation in 140 cases. Overall, 684 out of 828 non-acardiac fetuses following fetal intervention survived (82.6%) compared with 49 out of 76 (64.5%) non-acardiac fetuses in pregnancies managed expectantly (p = 0.0001). A higher survival rate was seen in fetuses undergoing umbilical cord ligation (100%) although this procedure was performed in only 8 women. Survival rates were 88.9%, 79.9%, 78.9% and 77.9% for monopolar coagulation of the umbilical cord, laser coagulation of the umbilical cord, fetoscopic laser ablation of placental anastomoses and radiofrequency ablation, respectively. Our results show that the survival rate is higher in patients with TRAP who have a prenatal intervention compared with those who have prenatal expectant management. The survival rate varies depending on the modality used for the prenatal intervention. Future studies are necessary to investigate the impact of the gestational age at the time of the procedure on the survival rate depending on the prenatal therapeutic modality.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"396-422"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010328","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":"Use of Clinically Informed Strategies and Diagnostic Yields of Genetic Testing for Fetal Structural Anomalies Following a Non-Diagnostic Microarray Result: A Population-Based Cohort Study.","authors":"Victoria M Allen, Erica Schollenberg, Erika Aberg, Jo-Ann K Brock","doi":"10.1002/pd.6759","DOIUrl":"10.1002/pd.6759","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the performance of targeted gene sequencing, expanded gene panels, and selected exomes for prenatally identified fetal anomalies, after non-diagnostic microarray results.</p><p><strong>Method: </strong>All fetal samples received for genetic testing for fetal structural anomalies in the Canadian Maritime Provinces (2014-2022) were identified. Utilization and results of NGS sequencing strategies after a non-diagnostic microarray were correlated with ultrasound findings and autopsy results.</p><p><strong>Results: </strong>Five hundred and ninety-three cases of fetal anomalies with non-diagnostic RAD results were identified, including 319 (54%) with isolated anomalies. Diagnostic yield from the microarray was 7.5%. Sequence-based testing for 131 cases gave an overall diagnostic yield of 38% (8.4% of initial cohort). For isolated anomalies, diagnostic yield was highest in the intracranial, renal, and musculoskeletal systems (44%, 60%, 64% respectively). Appropriate targeted gene sequencing provided a diagnostic yield of 40%. With clinically indicated criteria for exome analysis, diagnostic yields were higher than when clinical information prompted use of a selected gene panel (73% vs. 27%). Expanding to an exome after a non-diagnostic gene panel had an additional diagnostic yield of 13%.</p><p><strong>Conclusion: </strong>Multidisciplinary review and comprehensive clinical information can inform the selection of strategies for expanded genetic testing after non-diagnostic microarray for fetal anomalies within a publicly funded health care system.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"318-325"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425923","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}