Prenatal Ultrasound Features of Biliary Atresia: Diagnostic Significance of Abnormal Gallbladder Size and Hepatic Hilar Cyst [0.03%]
先天性胆总管闭锁的产前超声影像特征：胆囊大小异常和肝门部囊肿的诊断意义
Wu Xu,Wen Ling,Xiaolong Ren et al.
Wu Xu et al.
Objective: To explore the predictive potential of prenatal ultrasound features and their capacity to differentiate biliary atresia (BA) in fetuses exhibiting biliary abnormalities. ...
Natalie J Chandler,Zandra C Deans
Natalie J Chandler
Objective: The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how f...
Perinatal Survival Following Parvovirus B19 Infection: Overall Outcomes and a Secondary Comparison of the 2023-2024 Outbreak to the Previous Two Decades [0.03%]
人细脑病毒B19感染的围产期生存率：总体结果及2023-2024年疫情与前二十年的二次比较
Noam Regev,Noam Pardo,Michal Axelrod et al.
Noam Regev et al.
Objectives: To evaluate perinatal survival following maternal parvovirus B19 virus (B19V) infection and compare the 2023-2024 outbreak to prior decades. M...
Clinical Implications of Noninvasive Prenatal Testing Failures Due to Low Fetal Fraction: Associations With Adverse Maternal and Fetal Outcomes [0.03%]
无创产前检测失败与不良母婴结局的关系研究及其临床意义：低胎儿游离DNA片段比例的影响
Yuan Ren,Na Hao,Jiazhen Chang et al.
Yuan Ren et al.
Objective: To identify risk factors associated with noninvasive prenatal testing (NIPT) failures due to a low fetal fraction (LFF, < 4%) and to evaluate appropriate management strategies. ...
Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases [0.03%]
一项回顾性分析：外显子组测序在1766例无症状胎儿遗传病产前筛查中的阳性率分析
Guan Wang,Ting Xue,Tian Xie et al.
Guan Wang et al.
Objective: We aimed to evaluate the yield of exome sequencing (ES) as a routine screening test for Mendelian disorders in asymptomatic fetuses undergoing prenatal diagnosis, with a focus on identifying gene variants assoc...
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS [0.03%]
外显子组测序在法国产前诊断中的应用：来自产前诊断中心专业人士的质性探索研究：Prenatome-SHS
Charlène Daval,Nicolas Meunier-Beillard,Eléonore Viora-Dupont et al.
Charlène Daval et al.
Objective: Following the first French multicenter pilot study (AnDDI-Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised...
An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL [0.03%]
NIPBL新变异导致的Cornelia de Lange综合征的罕见产前表现症状以骨骼为主
Beatrice Burzio,Giulia Rosti,Francesca Madia et al.
Beatrice Burzio et al.
CNLS is a multisystemic malformative syndrome caused by variants in genes of the cohesin complex, with the most common form due to variants in NIPBL. Phenotype is variable, but facial dysmorphisms and skeletal anomalies represent the most c...
Case Reports
Prenatal diagnosis. 2025 Jul 22. DOI:10.1002/pd.6864 2025
Diagnostic Value of Cell-Free DNA Fetal Fraction in Patients With Prenatally Suspected Placenta Accreta Spectrum Disorder [0.03%]
细胞游离DNA胎儿片段在疑似胎盘植入谱系疾病中的诊断价值分析
Danielle Chirumbole,Christian M Parobek,Alex Tai et al.
Danielle Chirumbole et al.
Objective: The purpose of this study was to investigate the relationship between fetal fraction (FF) and placenta accreta spectrum (PAS) pathology in patients with prenatally suspected PAS. ...
Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis-A Systematic Review [0.03%]
序贯性羊膜腔灌注治疗先天双侧肾缺如综合症的系统评价
Adriana Baez,Gabriele Tonni,Chryso P Katsoufis et al.
Adriana Baez et al.
Serial amnioinfusion therapy (SAT) has emerged as a potential mitigatory intervention to adverse perinatal outcomes associated with congenital bilateral renal agenesis (BRA). However, its efficacy, safety, and ethical implications warrant t...
Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy [0.03%]
通过孕前或早孕期扩展携带者筛查偶然发现潜在受影响个体
Yan Lü,Jiazhen Chang,Yulin Jiang et al.
Yan Lü et al.
Objective: Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X-linked recessive genetic disorder. Rarely, a presumably healthy ind...