Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium [0.03%]
比利时不同产前游离DNA筛查技术的多中心纵向性能监测
Armelle Duquenne,Nathalie Brison,Ilse Parijs et al.
Armelle Duquenne et al.
Objective: Prenatal cell-free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory-developed tests (LDTs) show high accuracy in validation studies, real-world...
Observational Study
Prenatal diagnosis. 2026 Oct;46(11):1771-1777. DOI:10.1002/pd.70236 2026
Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases [0.03%]
六例胎儿广泛性淋巴囊性畸形的母亲选择性他克莫司治疗：选择标准、管理和结果
L Guibaud,M Bordas-Fournel,S Cabet et al.
L Guibaud et al.
Objective: Maternal sirolimus therapy has emerged as a potential prenatal treatment for extensive fetal lymphatic malformations, particularly when associated with the risk of neonatal airway compromise. Data on prenatal i...
Case Reports
Prenatal diagnosis. 2026 Sep;46(10):1626-1636. DOI:10.1002/pd.70230 2026
When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing [0.03%]
外显子组测序的潜在应用——用于胎儿异常的预后诊断评估是一项被低估的技术优势
Jonathan Rips,Hagar Mor-Shaked,Rivka Birnbaum et al.
Jonathan Rips et al.
Objectives: To describe a cohort of fetuses with abnormal prenatal findings in whom exome sequencing (ES) identified genetic diagnoses that refined prognostic assessment and reduced prognostic uncertainty. ...
Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity [0.03%]
中孕期产前检测遗传异质性缺失的中深度全外显子组测序与芯片 Comparative Analysis of Medium-Coverage Whole-Exome Sequencing and Chromosomal Microarray
Mengdie Zhang,Juan Li,Chunying Ren et al.
Mengdie Zhang et al.
Objective: Absence of heterozygosity (AOH) is a clinically significant genomic feature often associated with uniparental disomy and parental consanguinity in the prenatal settings. Chromosomal microarray analysis (CMA) is...
A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data [0.03%]
基于NIPT数据预测潜在病毒读段的简化工作流程
Shabnam Shahidi,Atousa Dabiri Oskoei,Akbar Mohammadzadeh et al.
Shabnam Shahidi et al.
Objective: Non-invasive prenatal testing (NIPT) identifies fetal chromosomal abnormalities by sequencing cell-free fetal DNA (cffDNA). Recent studies suggest the prediction of viral sequences from NIPT data, but current m...
Mar Bennasar,Antoni Borrell
Mar Bennasar
Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the m...
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