Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review [0.03%]
用于胎儿结构异常产前诊断的测序检测阳性率：一项系统性回顾的更新结果
Karen Mei Xian Lim,Alexander Gibbs,Elizabeth Scotchman et al.
Karen Mei Xian Lim et al.
The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in str...
Reproductive Decision-Making Among BRCA1/2 Pathogenic Variants Carriers and Physicians: Attitudes Toward Preimplantation and Prenatal Genetic Testing [0.03%]
携带BRCA1/2致病突变的个体及其医师在生殖方面的决策：胚胎植入前和产前遗传检测的态度
Marta D&#x;Alonzo,Silvia Actis,Giulia Lavalle et al.
Marta D&#x;Alonzo et al.
Objective: The objective of this paper is to investigate the knowledge and attitudes of BRCA1/2 pathogenic variant carriers and gynecologists regarding preimplantation genetic tests for monogenic diseases (PGT-M) and pren...
Clinical Grading of Artificial Intelligence-Based 3D Fetal Brain Segmentations: A Cross-Vendor Evaluation of Deep Learning in Fetal Neuroimaging [0.03%]
基于人工智能的三维胎儿大脑分割的临床分级：胎儿神经影像中深度学习的跨供应商评估
Moska Aliasi,Linde S Hesse,Madeleine K Wyburd et al.
Moska Aliasi et al.
Objective: To evaluate the performance of automated (sub)cortical fetal brain segmentation methods on a novel 3D ultrasound dataset acquired from a different vendor, and to introduce a clinician-focused visual evaluation ...
Sotalol Dose Optimization for Fetal Tachycardia: A Pregnancy Physiologically Based Pharmacokinetic Model Study [0.03%]
胎儿心动过缓的索他洛尔剂量优化：基于生理的药代动力学模型研究
Hedwig van Hove,Joyce E M van der Heijden,Anne van Uden et al.
Hedwig van Hove et al.
Objective: To establish an optimized sotalol dosing strategy for fetal tachycardia using a pregnancy physiologically based pharmacokinetic (PBPK) model. M...
CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype [0.03%]
CUL3相关神经发育障碍：扩展胎儿期表型
Yoel Gofin,Tania Dery,Tamar Tenne et al.
Yoel Gofin et al.
Objective: Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonogra...
Fetal Sylvian Fissure Maturation in Congenital Heart Disease and Its Relation to Expected Brain Arterial Oxygen Saturation: A Longitudinal Study [0.03%]
先天性心脏病胎儿大脑半球裂发育成熟度及其与脑动脉氧饱和度预期值关系的纵向研究
Xiaowei Xiong,Yuanjie Cui,Chenxiao Hou et al.
Xiaowei Xiong et al.
Objectives: To compare fetal sylvian fissure (SF) maturation between normal controls and fetuses with congenital heart disease (CHD), and to investigate the relationship between SF development and expected cerebral arteri...
Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria [0.03%]
第四脑室显著扩大的胎儿产前诊断及围生结局：MRI诊断标准的挑战与陷阱分析
Léa Schieffer,Catherine Garel,Laurent Guibaud et al.
Léa Schieffer et al.
Introduction: The neurodevelopmental outcome of 'Cystic' malformations of the posterior fossa with marked opening of the fourth ventricle, such as Dandy Walker malformation (DWM) and large Blake's pouch cyst (BPC), is a m...
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis [0.03%]
产前诊断的孤立性神经管缺陷的外显子组测序：一种亚型特异性分析
Adi Botvinik,Vered Offen Glasner,Adi Reches et al.
Adi Botvinik et al.
Objective: To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) - acrania-exencephaly-anencephaly sequence (AEAS), spinal dysraphism, and encephalocele - using exome s...
Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community [0.03%]
法尼科贫血症患者群体对产前干预的态度研究
Tony Lum,Catherine Lee,Tippi MacKenzie et al.
Tony Lum et al.
Objective: In-utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in-utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia ...