Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results [0.03%]
产后外显子组测序结果再分析的诊断意义
Kate Swanson,Ugur Hodoglugil,Teresa N Sparks et al.
Kate Swanson et al.
Objective: Analysis of exome sequencing (ES) relies on correlation with phenotypic features, but fetal phenotyping is often incomplete. The additional yield of postnatal follow-up in cases with negative or inconclusive pr...
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort [0.03%]
外显子组测序在大规模印度队列中对严重孟德尔发育异常的基因组探索：见解
Neerja Gupta,Mounika Endrakanti,Rohit Sadanand et al.
Neerja Gupta et al.
Objectives: To evaluate the diagnostic utility of exome sequencing (ES) in structurally abnormal fetuses and infants with suspected severe Mendelian developmental defects. ...
Can Communication Skills Be Taught in a Multidisciplinary Maternal Fetal Care Center? [0.03%]
多学科母胎护理中心能培养沟通技能吗？
Lauren S Crafts,Kassie Merrill-Olver,Cassandra R Duffy et al.
Lauren S Crafts et al.
Objective: To evaluate a structured communication training for providers performing prenatal counseling for patients presenting to a multidisciplinary maternal fetal care center. ...
A Practical Prenatal Ultrasound Classification System for Lower Limb Anomalies-PRELLIM Classification [0.03%]
一种实用的胎儿肢体畸形超声分类系统-PRELLIM 分类法
Arda Arduç,Margriet H M van Doesburg,Melinda M E H Witbreuk et al.
Arda Arduç et al.
Objective: To address the current lack of a prenatal classification system for fetal lower limb anomalies, we developed and evaluated the PRELLIM (PREnatal Lower LIMb impairment) classification. ...
Genome Sequencing for All Pregnant Persons: Navigating the Next Frontier in Prenatal Diagnosis Through Patient Reflections [0.03%]
孕产妇全基因组测序：通过患者反思探讨产前诊断的下一个前沿方向
Kristen E Kelly,Stephanie Galloway,Alexandra Demers et al.
Kristen E Kelly et al.
Objective: This study aimed to explore participant reflections after receipt of prenatal genome sequencing (GS) results in the absence of fetal anomalies. ...
Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis [0.03%]
先天性心脏病中全基因组测序发现致病性单核苷酸变异的产出率：系统评价和-meta分析
Hiba J Mustafa,Parisa Najjariasl,Faezeh Aghajani et al.
Hiba J Mustafa et al.
Objective: This systematic review and meta-analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart ...
A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant [0.03%]
由于新型PORCN变异导致的分裂手/足畸形、肾发育不全和小眼症的致死性焦点真皮发育不良 prenatal病例报告
Molly Jackson,Ian Suchet,Kristopher Langdon et al.
Molly Jackson et al.
Case Reports
Prenatal diagnosis. 2025 Sep 3. DOI:10.1002/pd.6880 2025
The Influence of the Introduction of Fetal Anomaly Scans on Pregnancy Terminations in Cases of Upper Limb Anomalies: A Retrospective Cohort Study From 2000 to 2023 [0.03%]
1990-2023年胎儿畸形超声筛查对上肢畸形妊娠终止影响的回顾队列研究
Arda Arduç,Eline Huiberts,Margriet H M van Doesburg et al.
Arda Arduç et al.
Objective: To examine the association between the introduction of the fetal anomaly scans in the Netherlands and termination of pregnancy (TOP) in cases of prenatally detected upper limb anomalies. ...
Assessment of the Fetal Sylvian Fissure in the Setting of Diffuse Cortical Abnormalities Detection: A Comparison of Published Methods [0.03%]
弥漫性皮质异常检测条件下胎儿大脑外侧裂的评估：比较已发表的方法
Corinne Labadini,Andrea Dall&#x;asta,Raphael Bartin et al.
Corinne Labadini et al.
Objectives: The aim of this study is to compare the accuracy of the currently published techniques for Sylvian fissure (SF) evaluation on the axial plane in normal fetuses and in fetuses with confirmed diffuse malformatio...
Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders [0.03%]
MED12相关疾病伴发宫肺发育不全扩展了该疾病的表型谱系
Vijaya Ramachandran,Natalie J Chandler,Alexander Gibbs et al.
Vijaya Ramachandran et al.
Case Reports
Prenatal diagnosis. 2025 Aug 30. DOI:10.1002/pd.6881 2025