Vered Offen Glassner,Adi Botvinik,Adi Mory et al.
Vered Offen Glassner et al.
Objective: To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods: This retrospective study incl...
Neurocognitive Assessment in Children With Prenatal Diagnosis of Apparently Isolated Obliteration of Cavum Septi Pellucidi [0.03%]
前庭孔闭合的胎儿 prenatal诊断为孤立性室管膜下腔闭塞儿童的认知神经评估
Elisa Montaguti,Luca Soliani,Chiara Montedoro et al.
Elisa Montaguti et al.
Objectives: To evaluate the neurological development of children with prenatally detected obliterated cavum septi pellucidi. Methods: W...
Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype [0.03%]
prenatal-oncine常染色体显性多囊肾病：假 recessive 表型的临床表现范围和遗传复杂性
Margarita Sharova,Marina Shumikchina,Larisa Prikhodina et al.
Margarita Sharova et al.
Objective: Renal cystic dysplasia represents a group of disorders involving primary cilia dysfunction. Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 pathogenic variants typically presents in adulthood; ...
The Prediction of Pre-Eclampsia Using Low Fetal Fraction in a Machine Learning Model [0.03%]
基于机器学习模型的低胎儿游离DNA分数子痫前期预测研究
Jinyuan Wang,Yuxiao Bai,Shengshan Huang et al.
Jinyuan Wang et al.
Objective: To investigate the association between low fetal fraction (FF) in non-invasive prenatal testing (NIPT) and pregnancy complications or adverse pregnancy outcomes. ...
Evolving Practices in Prenatal Open Spinal Dysraphism: A Global Survey of Selection Criteria, Surgical Techniques, and Diagnostic Trends [0.03%]
产前脊柱裂开的演变实践：选择标准、手术技术和诊断趋势的全球调查
Corinna Keil,Noemi Wiora,Eyal Krispin et al.
Corinna Keil et al.
Objective: To provide an updated overview of international clinical practice in prenatal repair of open spinal dysraphism (OSD), focusing on evolving eligibility criteria, surgical techniques, and diagnostic standards. ...
Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing [0.03%]
纳米孔长读测序在产前或植入前遗传学检测DMPK1基因CTG重复长度中的潜在作用
Yui Shichiri,Hidehito Inagaki,Tasuku Mariya et al.
Yui Shichiri et al.
Objective: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neurodevelopmental disorder caused by CTG repeat expansion in the DMPK gene. Although the clinical classification of DM1 is determined by the CTG repeat ...
Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing [0.03%]
Sotos 综合征的产前诊断：染色体微阵列分析与外显子组测序联合应用
Xi Yang,Hongke Ding,Yiqun He et al.
Xi Yang et al.
Objective: To present prenatal sonographic features, genomic results of chromosomal microarray analysis (CMA) and exome sequencing (ES), and pregnancy outcomes of fetuses with Sotos syndrome, and to provide genetic counse...
Michelle Joy Wang,Tyler Lueck,Alexis Burian et al.
Michelle Joy Wang et al.
Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B [0.03%]
胎儿SMALED2B的新发BICD2变异：产前表型的进一步扩展（小脑发育不全、关节挛缩和胎儿水肿）
Francesca Romana Lepri,Ludovico Graziani,Lucia Menale et al.
Francesca Romana Lepri et al.
Case Reports
Prenatal diagnosis. 2025 Nov 17. DOI:10.1002/pd.70024 2025
Early Second Trimester Diagnosis of Bardet-Biedel in a Fetus With a Novel In-Frame Deletion Variant in BBS12 Gene: The Phenotype Informs the Genotype [0.03%]
胎儿BBS12基因新型无移码缺失变异的巴德特-毕德尔综合征（Bardet-Biedl syndrome）产前诊断：表型指导基因检测
Claudiana Olivieri,Mariachiara Bosco,Angela Gentile et al.
Claudiana Olivieri et al.
Case Reports
Prenatal diagnosis. 2025 Nov 16. DOI:10.1002/pd.70018 2025