Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome [0.03%]
先天性巨细胞病毒胎儿定量磁共振皮层折叠和脑体积评估及其出生后的结果
Or R Sadan,Bossmat Yehuda,Maya Yanko et al.
Or R Sadan et al.
Objective: Quantitative assessment of the impact of cytomegalovirus (CMV) infection on fetal brain development beyond conventional imaging remains limited. We aimed to quantify cortical gyrification and brain volumes in C...
Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities [0.03%]
在心脏异常胎儿中识别出HECW2基因的新发致病性变异体
Kristina Nimchenko,Bettina Bessieres,Gihad E Chalouhi et al.
Kristina Nimchenko et al.
Case Reports
Prenatal diagnosis. 2026 Jul 23. DOI:10.1002/pd.70226 2026
The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses [0.03%]
CHAT同合病原变异导致三个南非科萨人的胎儿致命性胎动缺乏综合征
Jade Ramini,Cumine van Tonder,Yolandi Swart et al.
Jade Ramini et al.
Case Reports
Prenatal diagnosis. 2026 Jul 22. DOI:10.1002/pd.70220 2026
A Case of Monozygotic Twins Carrying a Novel Loss-of-Function Variant in the MYCBP2 Gene, Presenting With Microcephaly, Ectopic Kidney and Growth Restriction [0.03%]
MYCBP2基因新功能丧失型变异双生子病例：小头畸形、异位肾和生长受限
Yu Tan,Huan Tian,Jingqun Mai et al.
Yu Tan et al.
Case Reports
Prenatal diagnosis. 2026 Jul 17. DOI:10.1002/pd.70225 2026
Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort [0.03%]
孕早期NT增厚的妊娠结局及父母处理决定（一项为期12年的队列研究）
Benjamin Birene,Jean-Paul Bory,Eloi Dondeyne et al.
Benjamin Birene et al.
Objective: To describe diagnostic trajectories and parental decision-making following increased first-trimester nuchal translucency (NT), according to NT thickness. ...
International Expert Consensus on the Diagnosis and Clinical Management of Primary Fetal Pleural Effusion [0.03%]
原发性胎儿胸腔积液诊断与临床管理国际专家共识
May Abiad,Ali Javinani,Maria C Lopez et al.
May Abiad et al.
Objective(s): Fetal pleural effusion is a rare condition that may significantly impact fetal and neonatal outcomes. Currently, no universal standardized approach exists for diagnosing and managing primary fetal pleural ef...
Genetic Etiology of Miscarriage in a Vietnamese Cohort Using CNV-Seq and Exome Sequencing [0.03%]
基于拷贝数变异测序和外显子组测序探讨越南队列中流产的遗传病因学
Minh Doan Thai,Khanh Vu Nguyen,Y-Thanh Lu et al.
Minh Doan Thai et al.
Objective: Pregnancy loss affects approximately 15% of pregnancies worldwide, with genetic abnormalities being a major cause. This study aimed to investigate the genetic etiologies of pregnancy loss in Vietnam and to char...
Lung Size Measurement in Left-Sided Congenital Diaphragmatic Hernia: Does Position of the Fetus Affect Results? [0.03%]
左侧先天性膈疝胎儿体位对肺体积测量结果有影响吗？
Rogelio Cruz-Martínez,Paola Rivera-Carrillo,Rosa Villalobos-Gómez et al.
Rogelio Cruz-Martínez et al.
Objective: To compare the difference in lung size measurement in fetuses with left-sided congenital diaphragmatic hernia (L-CDH) by means of the observed/expected lung-to-head ratio (O/E-LHR) in two different fetal positi...
Natural History of Fetal Non-Nuchal Lymphatic Malformations: A Single Center Retrospective Study [0.03%]
胎儿非颈部淋巴管畸形的自然史：单中心回顾性研究
Yada Kunpalin,Dilkash Kajal,Lennart Van der Veeken et al.
Yada Kunpalin et al.
Objective: To document the natural history and complications of second- and third-trimester non-nuchal lymphatic malformations (LM) and identify predictors of these complications. ...
Development of a High-Throughput Microarray Platform for Rapid, Low-Cost Expanded Carrier Screening [0.03%]
高通量微阵列平台的开发，用于快速低成本的地中海贫血携带者筛查
Jiazhen Chang,Na Hao,Xiya Zhou et al.
Jiazhen Chang et al.
Objective: To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next-generation sequencing (NG...