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
Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice [0.03%]
脊髓肌肉萎缩症携带者的筛选：评估提供者知识和临床实践
Melissa Riegel,Whitney Bender,Elizabeth Critchlow et al.
Melissa Riegel et al.
Objective: The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowle...
The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis [0.03%]
系统性回顾与meta分析：游离胎儿DNA检测在胎儿生长受限中筛查染色体异常的收益评估——与产前核型分析比较
Ioakeim Sapantzoglou,Evangelia Kontogeorgi,Vasilios Pergialiotis et al.
Ioakeim Sapantzoglou et al.
The main objective of our study was to conduct a systematic literature review and a meta-analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our revie...
Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome [0.03%]
FGFR1基因新型错义突变致Hartsfield综合征的产前诊断病例报告
Mia B Hodges,Kelly L Gilmore,Madeline J Dyke et al.
Mia B Hodges et al.
Case Reports
Prenatal diagnosis. 2025 Nov 14. DOI:10.1002/pd.70019 2025