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
Novel Fetal Phenotype for Pan-Chung-Bellen Syndrome Including Congenital Diaphragmatic Hernia [0.03%]
包括先天性膈疝的潘-俊-贝尔伦综合征的新胎儿表型
Nimerta Sandhu,Noura Osman,Nina Boe et al.
Nimerta Sandhu et al.
Case Reports
Prenatal diagnosis. 2025 Aug 27. DOI:10.1002/pd.6879 2025
Genetic Investigation of Fetuses With Isolated Unilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience [0.03%]
第二孕期超声检查发现孤立性单侧肾发育不全胎儿的遗传学研究：单一转诊中心的经验报告
Yong-Ling Zhang,Qiu-Xia Yu,Zhi-Qing Xiao et al.
Yong-Ling Zhang et al.
Objective: The objective of this paper is to explore genetic syndromes in fetuses with isolated unilateral renal agenesis (URA). Methods: ...
Highlights of the 28th ISPD Annual Conference, Hosted in Boston and Themed "Envisioning Global Fetal-Maternal Genomics and the Paths to Treatment" [0.03%]
第二十八届ISPD年度大会亮点纷呈，在波士顿举办，主题为“展望全球胎儿-母体基因组学及治疗之路”
Teresa N Sparks,Louise Wilkins-Haug
Teresa N Sparks
Editorial
Prenatal diagnosis. 2025 Aug 18. DOI:10.1002/pd.6875 2025