Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies [0.03%]
TRPV6突变致 prenatal表型变异并伴有眼异常
Edouard Leyne,Jelena Martinovic,Peter Kamenický et al.
Edouard Leyne et al.
Case Reports
Prenatal diagnosis. 2026 Mar 12. DOI:10.1002/pd.70119 2026
Kate Swanson,Matthew A Shear,Teresa N Sparks et al.
Kate Swanson et al.
Objective: Exome sequencing (ES) and gene panels can be considered for fetal anomalies. Whether ES offers substantial benefit over targeted panels is not clear. ...
Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual-Generation Case Report [0.03%]
孕母FGFR1终止变异在连续妊娠中 prenatal 变异性表现：一例跨两代家系的病例报告
Huining Jing,Hao Wang,Bocheng Xu et al.
Huining Jing et al.
Variation in the Genetic Workup of Polyhydramnios: An International and Inter-Specialty Survey [0.03%]
多羊水遗传学检查的国际和跨学科调查问卷差异
Roni Zemet,Yuval Yaron,Lena Sagi-Dain
Roni Zemet
Objective: To evaluate international and interprofessional variability in the definition and genetic evaluation of polyhydramnios, and to identify factors influencing clinical decision-making. ...
Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities [0.03%]
胎儿死后微CT对中枢神经系统畸形的诊断价值
Ian C Simcock,Audrey Lamouroux,Susan C Shelmerdine et al.
Ian C Simcock et al.
Objectives: This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post-mortem micro-focus computed tomography (Micro-CT), independent of whether the abnormality contributed to the mai...
Low-Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses [0.03%]
低深度全基因组测序在19452例胎儿中的染色体异常与超声软指标异常之间的相关性研究
Lijuan Pan,Jiayu Wu,Yi Zhang et al.
Lijuan Pan et al.
Objective: This study aimed to evaluate the detection rates of aneuploidies and pathogenic/likely pathogenic copy number variations (pCNV) using low-pass genome sequencing (LP-GS), also known as CNV-seq, across different ...
Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis [0.03%]
反复出现的男性胎儿水肿揭示隐性色素失禁症：基因干扰的假基因组诊断教训
Chunge Cao,Yao Zhang,Yingjun Yang et al.
Chunge Cao et al.
Objective: To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non-immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype-driven targeted prenatal t...
The Clinical Utility of Sequence-Based Genetic Testing for Fetal Edema Following Non-Diagnostic Microarray Results: A Population-Based Cohort Study [0.03%]
基于序列的遗传检验在微阵列检查结果非诊断性胎儿水肿中的临床应用价值：基于人群的队列研究
Victoria M Allen,Heleen H Arts,Erica Schollenberg et al.
Victoria M Allen et al.
Objective: Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non-diagnosti...
Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant [0.03%]
产前诊断的Beare-Stevenson皱皮综合征合并FGFR2新变异型病例报告
Haley M Crane,Rose Giardine,Alanna Strong et al.
Haley M Crane et al.
Case Reports
Prenatal diagnosis. 2026 Mar 3. DOI:10.1002/pd.70113 2026
Preferences of Pregnant Women and Healthcare Professionals on First-Trimester Ultrasound Screening for Fetal Anomalies: A Discrete Choice Experiment [0.03%]
孕妇和医务人员对早期唐氏筛查的偏好：一种离散选择实验的方法
Eline E R Lust,Kim Bronsgeest,Ian Smith et al.
Eline E R Lust et al.
Objective: The first-trimester anomaly scan (FTAS) allows early detection of fetal structural anomalies. Decisions on timing and scan protocol influence its performance. Understanding how pregnant women and healthcare pro...