Fetal Interrupted Aortic Arch and Unilateral Duplex Kidney Identified by Second Trimester Ultrasound Prompting Genetic Diagnosis of Neonatal Sclerosing Cholangitis [0.03%]
胎儿主动脉弓中断和单侧重复肾的中期超声筛查发现并提示基因诊断新生儿硬化性胆管炎
Dan-Ping Huang,Cong-Min Gu,Qiu-Xia Yu et al.
Dan-Ping Huang et al.
Case Reports
Prenatal diagnosis. 2026 Aug 1. DOI:10.1002/pd.70232 2026
Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants [0.03%]
产前无创性染色体非整倍体检出性别的染色体异常后进行诊断性检查的影响因素分析：临床及社会经济因素
Blair K Stevens,Sarah Araji,Mohamad Ali Maktabi et al.
Blair K Stevens et al.
Objective: To assess socioeconomic and medical factors associated with prenatal confirmatory diagnostic testing after positive prenatal cell-free (cfDNA) screening for sex chromosome aneuploidies (SCA) in a diverse contem...
Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy-A Narrative Review [0.03%]
自体镜综合征（Ballantine 综合征）的产前诊断、发病机制及胎儿治疗的作用-综述叙事
Riccardo Tudisco,Pauline Latapie,Anita Romiti et al.
Riccardo Tudisco et al.
Mirror syndrome is a rare maternal-fetal condition associated with fetal hydrops and a high risk of adverse maternal and fetal perinatal outcomes. Its diagnosis is challenging due to the lack of standardized diagnostic criteria and its clin...
First-Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome [0.03%]
第一孕期双侧鼻后孔闭锁作为BCAHH综合征新发KMT2D致病突变标志的标志
Patrik Šimják,Jan Král,Dagmar Rašková et al.
Patrik Šimják et al.
Case Reports
Prenatal diagnosis. 2026 Jul 26. DOI:10.1002/pd.70227 2026
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...