Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature [0.03%]
Shwachman-Diamond综合征的产前诊断：两例罕见临床表现及假基因干扰的病例报告及文献复习
Nathalie Vanden Eynde,Ileen Slegers,Elise Vantroys et al.
Nathalie Vanden Eynde et al.
This report describes two unrelated prenatal cases of Shwachman-Diamond syndrome (SDS) presenting primarily with severe skeletal anomalies. SDS is a rare autosomal recessive disorder characterized by a triad of bone marrow dysfunction, skel...
Utility of Fluorescence In Situ Hybridization as a Fetal Surgery Eligibility Criterion for Isolated Congenital Anomalies When Non-Invasive Screening Is Performed [0.03%]
无创产前筛查背景下荧光原位杂交技术在孤立性胎儿畸形外科手术前适应症评估中的应用价值分析
Ethan Lorence,Katelyn Seither,Hua He et al.
Ethan Lorence et al.
Objective: Current inclusion criteria for fetal surgery at most centers include the absence of multiple major anomalies and a normal chromosome analysis or fluorescence in situ hybridization (FISH) for aneuploidy. We eval...
Cardiovascular Profile Score and Perinatal Survival Among Fetuses With Ebstein's Anomaly or Tricuspid Valve Dysplasia: A Multi-Center Retrospective Cohort Study [0.03%]
艾森曼格畸形或三尖瓣发育不全胎儿心血管评估积分与围产儿生存率关系的多中心队列研究
Grace Freire,Nguyen Thieu,Maria Escobar Diaz et al.
Grace Freire et al.
Objective: We sought to perform multi-variable modeling to assess the independent value of the CVPS in fetuses with Ebstein anomaly or tricuspid valve dysplasia (EA/TVD). ...
Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype [0.03%]
prenatal exome测序检测到的Ⅰ型脊髓性肌萎缩症及向胎儿期表型认识迈出的一步
M Codina-Solà,M Costa-Roger,A Abulí et al.
M Codina-Solà et al.
Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights [0.03%]
外显子组测序在胎儿生长受限中的中度诊断价值：回顾性分析
Maud Langeois,Louise Paret,Jacqueline Aziza et al.
Maud Langeois et al.
Objective: To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods: Descriptive retros...
The Role of Increased Nuchal Translucency in Predicting Fetal and Neonatal Losses in 18,050 Fetuses With Congenital Heart Defects [0.03%]
颈部透明层增厚在预测18050例先天性心脏病胎儿和新生儿丢失中的作用
Shiqi Wang,Hua Yuan,Xinning Chen et al.
Shiqi Wang et al.
Objective: The objective of this study is to investigate the distribution of increased nuchal translucency (NT) and its role in predicting fetal and neonatal losses in congenital heart disease (CHD). ...
Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists [0.03%]
基因列表的选择很重要：外显子组测序的 prenatal exome sequencing 中基于 PanelApp R21 和 HPO 的基因列表相较于基于 OMIM 的基因列表会漏掉诊断结果
Victoria Ardiles-Ruesjas,Laia Rodriguez-Revenga,Montse Pauta et al.
Victoria Ardiles-Ruesjas et al.
Objective: To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp-R21 or Human Phenotype Ontology (HPO)-dr...
Fetal Fraction of Cell-Free DNA and Its Interaction With Maternal Pre-Pregnancy Body Mass Index on Multiple Adverse Pregnancy Outcomes [0.03%]
孕妇孕前体质指数与无细胞DNA胎儿分数的相互作用对多种不良妊娠结局的影响分析
Xiya Qin,Xuelian He,Linxuan Li et al.
Xiya Qin et al.
Objective: To investigate the relationships between fetal fraction (FF) and multiple adverse pregnancy outcomes and assess its interaction with maternal pre-pregnancy body mass index (BMI). ...
Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal Care [0.03%]
公共资助的胎儿外显子组测序的实施：全州多学科模型公平地将基因组学整合到产前护理中的模式
Willem Gheysen,Calder Hamill,Susan Fawcett et al.
Willem Gheysen et al.
Objective: To evaluate the implementation of a publicly funded statewide perinatal exome sequencing (ES) program in Victoria, Australia, focusing on eligibility, diagnostic yield, clinical utility, and equity. ...
"The Diagnostic Accuracy and Clinical Utility of Post-Mortem Fetal MRI Compared to Conventional Autopsy: A Systematic Review and Meta-Analysis" [0.03%]
“与常规尸检相比，产后胎儿MRI的诊断准确性及临床应用价值：系统回顾和荟萃分析”
Mishu Mangla,Seetu Palo,Poojitha Kalyani Kanikaram et al.
Mishu Mangla et al.
Post-mortem magnetic resonance imaging (pmMRI) has become an important non-invasive or minimally invasive method for evaluating fetal structural anomalies, providing an alternative to traditional autopsy. This study aimed to assess how pmMR...