Prenatal Diagnosis最新文献

{"title":"Clinical Utility and Yield of Carrier Exome Sequencing in High-Risk Indian Couples.","authors":"Mounika Endrakanti, Sarath R S, Neerja Gupta, Madhulika Kabra","doi":"10.1002/pd.6830","DOIUrl":"https://doi.org/10.1002/pd.6830","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the diagnostic yield and spectrum of monogenic disorders identified through exome sequencing (ES) based couple carrier screening in high-risk couples.</p><p><strong>Methods: </strong>We retrospectively reviewed the results of carrier screening by ES conducted between 2016 and 2023 at a tertiary care center in India for couples at increased risk of inherited genetic disease in their children. After pre-test genetic counseling, all couples underwent carrier screening through ES. We defined high-risk couples as those at an increased risk of inherited genetic disease in their children, and classified them as Category I (couples with a significant obstetric history, such as a previous fetus or child with a suspected genetic disorder), Category II (couples with a family history of a suspected genetic disorder in a parent or close relative) and Category III (couples opting for expanded carrier screening without any significant contributory history). Category I was further subcategorized based on the phenotype of the affected fetus, neonate, or child into: Ia - multiple malformations including non-immune hydrops and skeletal dysplasia; Ib - features suggestive of other system involvement; Ic - neurological phenotype with or without intellectual disability; and Id - unexplained intrauterine/neonatal death or stillbirth.</p><p><strong>Results: </strong>Of the 137 couples evaluated, 130 (95%) belonged to category I, of which 48/130 (37%) were subcategorised as Ia, 61/130 (47%) as Ib, 8/130 (6%) as Ic and 24/130 (18.5%) as Id. Nine couples had more than one subcategory indication for ES. Four couples (3%) belonged to category II, and three (2%) belonged to category III. Consanguinity was noted in 23.4% (32/137). The overall diagnostic yield in the cohort was 38.7% (53/137), mainly contributed by category I (52/130, 40%), with the highest yield in subcategory Ib (39/61, 64%).</p><p><strong>Conclusion: </strong>Carrier screening by ES is useful for identifying couples at high risk of having an offspring with genetic disorders. The yield is higher in couples with an affected previous pregnancy. ES allows comprehensive carrier screening in genetically diverse populations.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174645","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":"Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.","authors":"Alexander Gibbs, Muriel Holder-Espinasse, Vijaya Ramachandran, Natalie J Chandler","doi":"10.1002/pd.6829","DOIUrl":"https://doi.org/10.1002/pd.6829","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174650","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":"Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis.","authors":"Montse Pauta, Raigam J Martinez-Portilla, Ana Cecilia Jara-Ettinger, Victoria Ardiles-Ruesjas, Antoni Borrell","doi":"10.1002/pd.6824","DOIUrl":"https://doi.org/10.1002/pd.6824","url":null,"abstract":"<p><strong>Objective: </strong>To conduct a systematic review and meta-analysis of published series examining the efficacy of genome-wide cell-free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage.</p><p><strong>Methods: </strong>A systematic review was conducted encompassing observational studies evaluating aneuploidy detection by genome-wide cfDNA testing in pregnancy losses before 22 weeks of gestation. A hierarchical summary receiver operating curve was employed to assess pooled sensitivity, specificity, and area under the curve (AUC) of genome-wide cfDNA versus genetic diagnostic studies in the detection of aneuploidy. Pooled aneuploidy rate, rate of no-calls, and concordance between cfDNA and diagnostic studies were analyzed using a single proportion meta-analysis based on the inverse of the variance.</p><p><strong>Results: </strong>Out of 25 eligible series, eight studies were included for analysis, comprising 552 miscarriages with informative results for both cfDNA and diagnostic testing. Pooled sensitivity, specificity, and AUC were 78% (95% CI: 71%-83%), 91% (95% CI: 86%-95%), and 92%, respectively. Pooled aneuploidy rate, the proportion of no-calls, and concordance were 61% (95% CI: 53%-69%), 4% (95% CI: 0%-12%), and 84% (95% CI: 81%-87%), respectively. In cases of positive cfDNA results, the risk of aneuploidy increased to 93%, whereas negative results yielded a 28% risk of aneuploidy.</p><p><strong>Conclusion: </strong>cfDNA testing demonstrates acceptable accuracy in predicting fetal aneuploidy when employed as a screening test in miscarriages. The main advantage of cfDNA testing is that it does not require the availability of products of conception or prior chorionic villi sampling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151487","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":"Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.","authors":"Roni Zemet, Christian M Parobek, April D Adams, Mohamad Ali Maktabi, Lena Shay, Linyan Meng, Pengfei Liu, Hongzheng Dai, Fan Xia, Christine Eng, Ignatia B Van den Veyver, Liesbeth Vossaert","doi":"10.1002/pd.6817","DOIUrl":"https://doi.org/10.1002/pd.6817","url":null,"abstract":"<p><strong>Objective: </strong>Exome sequencing (ES) benefits the genetic work-up for fetuses with structural anomalies, but data on its utility for fetuses without anomalies and stillbirths is more limited. We report our experience with prenatal ES for all three indications.</p><p><strong>Method: </strong>We retrospectively reviewed results from 344 trio-ES performed for fetuses with structural anomalies (N = 262), stillbirths (N = 39), and fetuses without anomalies (N = 43), many of which had a relevant family history. We classified pathogenic variants (P), likely pathogenic variants (LP), or variants of uncertain significance (VUS) favoring pathogenicity in a gene consistent with the fetal phenotype as diagnostic results. We used Fisher's exact test for statistical analysis.</p><p><strong>Results: </strong>Trio-ES provided a diagnosis for 93/262 (35.5%) fetuses with structural anomalies, with comparable yields for multiple and single anomalies (p = 0.81). A molecular diagnosis was made for 10/39 stillbirths (25.6%), of which all but one had structural anomalies, and 66.6% had multiple anomalies. In the absence of structural anomalies, one of 43 fetuses (2.3%) was found to have compound heterozygous pathogenic variants in ORC6 associated with Meier-Gorlin syndrome.</p><p><strong>Conclusion: </strong>Prenatal trio-ES yields molecular diagnoses across a spectrum of indications. Larger studies are needed to further define the added benefits and challenges of diagnostic ES for fetuses without anomalies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151486","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":"Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics.","authors":"Maartje C Snoep, Damla Demir, Anouk M C Roestenburg, Eva Pajkrt, Elisabeth van Leeuwen, Ingeborg H Linskens, Ingmar Knobbe, Sally-Ann Clur, Lieke Rozendaal, Lotte E van der Meeren, Monique C Haak","doi":"10.1002/pd.6819","DOIUrl":"https://doi.org/10.1002/pd.6819","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to compare placenta-related complications (adverse placental syndrome) between different types of fetal CHD based on cardiac hemodynamics.</p><p><strong>Method: </strong>All CHD cases diagnosed prenatally by fetal ECHO during 2009-2023 were selected. Exclusion criteria were as follows: multiple pregnancies, pregnancy termination, known genetic aberrations, and extracardiac anomalies. Cases were categorized into 6 groups based on theorized hemodynamic factors. Reference values for fetal growth restriction (FGR), preeclampsia (PE), pregnancy induced hypertension (PIH), and intra uterine fetal demise (IUFD) from the overall Dutch and/or European population were used.</p><p><strong>Results: </strong>After exclusion, 1293 cases were available for analysis. The incidence of FGR was 198/1247 (15.9%). There was a significant difference in FGR between the groups of CHD (p = 0.002) though it could not be correlated with aortic flow and oxygenation. There was a high incidence of PE (64/1282, 5.0%), PIH (43/1284, 3.3%), and IUFD (33/1291, 2.6%) in our cohort as compared to reference values. Nonetheless, there were no differences in PE, PIH, and IUFD between the different CHD groups.</p><p><strong>Conclusion: </strong>A high incidence of adverse placental syndrome was found though this could not be related to fetal hemodynamics. Even in CHDs without hemodynamic changes, a high incidence of these complications was found. This might be a clinical manifestation of early embryological developmental pathways that affect both the placenta and the fetal heart.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151490","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":"Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.","authors":"Kristína Valovičová, Karin E M Diderich, Wichor M Bramer, Sander Lamballais, Malgorzata Ilona Srebniak","doi":"10.1002/pd.6822","DOIUrl":"https://doi.org/10.1002/pd.6822","url":null,"abstract":"<p><strong>Objective: </strong>Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non-invasive prenatal testing (NIPT). This screening gap limits informed decision-making in pregnancy and can lead to the unexpected birth of neonates with severe conditions. The aim of this study was to look for evidence of whether de novo SNVs can be detected through NIPT and to assess the possibility of screening for autosomal dominant MDs in cell-free DNA in maternal plasma.</p><p><strong>Methods: </strong>A systematic literature review conducted on the 27th of February 2024 identified 12 studies examining NIPT of multiple genes associated with MDs. An additional citation analysis for the four most recent studies that were included in the systematic review was conducted on 10th of April 2025. Four additional studies met our inclusion criteria and were incorporated in the final analysis.</p><p><strong>Results: </strong>The studies demonstrated that next-generation sequencing of a gene panel or whole exome could detect pathogenic single nucleotide variants in fetuses with high positive predictive values 98.9% (66.7%-100%).</p><p><strong>Conclusion: </strong>This review confirms that performing NIPT for de novo and paternally inherited pathogenic variants associated with MDs is technically possible. Ethical considerations, including disorder selection, variant disclosure, and the need for large-scale implementation studies must be addressed to assess the potential risks and ensure effective and responsible implementation.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136331","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":"Prenatal Diagnostic Testing for Adult-Onset Neurodegenerative Disease.","authors":"Maya Rawal, Stephanie Galloway, Michelle E Florido, Amanda L Bergner, Ronald Wapner, Jill S Goldman","doi":"10.1002/pd.6826","DOIUrl":"https://doi.org/10.1002/pd.6826","url":null,"abstract":"<p><strong>Objective: </strong>This study investigated existing practices and institutional guidelines on prenatal diagnostic testing (PND) for adult-onset neurodegenerative disease (AOND) to identify points of consensus, disparities, and areas of need in healthcare settings across the United States (US) to better understand if national guidelines are needed.</p><p><strong>Methods: </strong>A questionnaire about institutional practices and guidelines on PND for AOND was distributed through the National Society of Genetic Counselors, Society for Maternal-Fetal Medicine, and Huntington's Disease Society of America Centers of Excellence. Of 104 responses, 50 met eligibility criteria and were analyzed for commonalities and shared themes.</p><p><strong>Results: </strong>Of those who provided responses, 80% reported that their institution does not have a formal protocol or written guidelines on PND for AOND. Challenges to PND for AOND included ethical decision making after a positive genetic result, double disclosure of fetal and parental status, and differing values among relevant stakeholders. Of those who provided responses, 100% indicated that national guidelines would be beneficial.</p><p><strong>Conclusion: </strong>This study helps establish the need for national guidelines on PND for AOND given that most institutions surveyed do not have standardized protocols. Points of consensus and shared areas of uncertainty may serve as starting points for the formation of national practice guidelines.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136334","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":"Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.","authors":"Hang Zhou, Fang Fu, Ruibin Huang, Qiuxia Yu, Shujuan Yan, Jianqin Lu, Fei Guo, Chunling Ma, Huanyi Chen, Liyuan Liu, Yongling Zhang, Xiangyi Jing, Fucheng Li, Guilan Chen, Lushan Li, Tingying Lei, Qiong Deng, Shanshan Mei, Chen Chen, Jin Han, Ru Li, Can Liao","doi":"10.1002/pd.6818","DOIUrl":"https://doi.org/10.1002/pd.6818","url":null,"abstract":"<p><strong>Objective: </strong>To assess the diagnostic utility of exome sequencing (ES) in macrocephalic fetuses.</p><p><strong>Methods: </strong>Fetuses with macrocephaly (head circumference (HC) ≥ +2 SD) and negative chromosomal microarray results were included, who had available trio-ES data. Molecular diagnoses were systematically analyzed. Subgroup analyses were performed on the ES diagnostic yield based on gestational age, HC Z-scores, associated anomalies, and growth parameters.</p><p><strong>Results: </strong>Molecular diagnoses were established in 34 out of 87 macrocephalic fetuses (39.1%) through trio-ES. These diagnoses revealed that the variants predominantly affect key signaling pathways, including mTOR, RASopathies and Sotos syndrome. The detection rate was significantly higher in non-isolated compared to isolated macrocephaly cases (65.0%, 26/40 vs. 17.0%, 8/47; p < 0.001). The most frequent anomalies associated with genetic diagnoses included micromelia (100.0%, 14/14), megalencephaly (100.0%, 2/2), and ventriculomegaly (60.0%, 6/10). Subgroup analysis identified higher diagnostic yields in fetuses diagnosed before 32 gestational weeks, with HC Z-scores ≥ +3 SD, micromelia, and absence of large-for-gestational-age (LGA).</p><p><strong>Conclusions: </strong>Exome sequencing significantly enhances the detection of monogenic disorders in macrocephalic fetuses compared with CMA, irrespective of isolated or non-isolated cases. These clinical features and phenotypes are essential for assessing monogenic disorders and for prenatal counseling and evaluations of macrocephalic fetuses.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128275","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":"Differences in Prenatal and Postnatal Phenotypic Evaluations in Patients With Congenital Anomalies and Known Genetic Diagnoses.","authors":"Nicole Horton, Leandra Tolusso, Kimberly Widmeyer, Hua He, Daniel T Swarr","doi":"10.1002/pd.6810","DOIUrl":"https://doi.org/10.1002/pd.6810","url":null,"abstract":"<p><strong>Objectives: </strong>Gaps exist in the understanding of the presentation of genetic conditions across the lifespan, especially the prenatal period. This study describes the limitations of prenatal phenotyping among neonates with genetic conditions.</p><p><strong>Methods: </strong>We collected prenatal and postnatal phenotypes via retrospective chart review of neonates with genetic diagnoses who previously received fetal ultrasound, MRI, and echocardiogram at the Cincinnati Children's Fetal Care Center (CCFCC) between July 2018 and October 2022.</p><p><strong>Results: </strong>For 83 neonates with genetic diagnoses, the number of phenotypic findings significantly increased after postnatal evaluation (mean: 10.01) compared with what was identified during prenatal evaluation (mean: 4.65; p < 0.001). There was a significant increase in the number of anomalies noted postnatally in most body systems, including the musculoskeletal, nervous, and respiratory systems.</p><p><strong>Conclusions: </strong>There are significant increases in phenotypic findings prenatally and after birth. Fetuses with anomalies should be evaluated multiple times, particularly when a genetic etiology is suspected, to aid in phenotype-driven genetic testing. Identifying diagnoses during the prenatal period allows time for families to adapt perinatal medical management decisions or post-birth plans, such as adoption. Awareness of phenotypes that are difficult to evaluate may improve variant curation by placing less value in the absence of findings that may be characteristic of a disorder.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120329","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":"Prediction of Preeclampsia in Twins Using First Trimester: cffDNA Fraction, PlGF, and MAP.","authors":"Ran Svirsky, Adi Sharabi-Nov, Ron Maymon, Nadav Kugler, Moran Landau Rabbi, Richard Brown, Heidy Portillo Rodriguez, Linda Peltier, Kypros Nicolaides, Hamutal Meiri","doi":"10.1002/pd.6820","DOIUrl":"https://doi.org/10.1002/pd.6820","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate cell-free fetal DNA fraction (cffDNAF) as a first-trimester screening marker for preeclampsia necessitating delivery before 37 weeks' gestation in twin pregnancies alone and combined with other bio-markers.</p><p><strong>Methods: </strong>Women with two live fetuses were enrolled in the first trimester, and evaluated for cffDNAF as a first trimester preeclampsia marker alone, and with placental growth factor (PlGF), mean arterial pressure (MAP), and uterine artery pulsatility index (UtA-PI).</p><p><strong>Results: </strong>There were 20 affected women; the cffDNAF was 9.0% (IQR: 8.4%-10.3%) in the affected, compared to 14% (IQR: 11%-16%) in 163 unaffected cases (p < 0.001). The AUROC for cffDNAF was 0.73 (95% CI: 0.61-0.85, p < 0.001), PlGF had an AUROC of 0.71 (0.59-0.83, p = 0.001), MAP had AUROC of 0.61 (0.50-0.72, p = 0.053) whereas UtA-PI had AUROC of 0.54 (0.39-0.69, p > 0.05). Combining all three biomarkers yielded an AUROC of 0.89 (0.78-0.98), with a sensitivity of 81%, specificity of 90%, negative predictive value (NPV) of 97.5%, and positive predictive value (PPV) of 50.7 UtA-PI did not contribute to the AUROC.</p><p><strong>Conclusion: </strong>In twin pregnancies low first trimester cffDNAF effectively screens for preeclampsia necessitating delivery before 37 weeks' gestation, which is augmented with PlGF and MAP.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111849","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}