Accurate Detection of Multiple Chromosome Rearrangements and Copy Number Variations by PacBio Sequencing in Complex Chromosomal Abnormality [0.03%]
利用PacBio测序技术准确检测复杂染色体异常中的多种染色体重排及拷贝数变异
Lili Liu,Kai Kang,Hao Wang et al.
Lili Liu et al.
Objective: Accurate detection is crucial for achieving healthy live births in families with complex chromosomal balanced translocations (CCBTs). Application of PacBio technology to investigate the chromosomal characterist...
Prenatal Diagnosis of Arthrogryposis Multiplex Congenita (AMC): Ultrasound and Genetic Findings in 69 Fetuses From 67 Unrelated Families [0.03%]
产前诊断先天性多发关节挛缩症（AMC）的超声和基因发现：涉及67个家系的69例胎儿
Tingting Yao,Limin Yuan,Xiaozhen Dong et al.
Tingting Yao et al.
Objective: To investigate the ultrasound features and genetic etiology of fetuses with arthrogryposis multiplex congenita (AMC) to improve prenatal counseling. ...
Prenatal Diagnosis of Bachmann-Bupp Syndrome Associated With an ODC1 Variant Presented With Macrocephaly and Ventricular Septal Defect Identified by Second Trimester Ultrasound [0.03%]
产前诊断一例Bachmann-Bupp综合征及相关ODC1变异症伴巨脑畸形和室间隔缺损的病例报告
Ru Li,Qiong Deng,Qiu-Xia Yu et al.
Ru Li et al.
Case Reports
Prenatal diagnosis. 2026 Apr 3. DOI:10.1002/pd.70147 2026
Prenatal Magnetic Resonance Imaging Assessment of Fetal Airway Dimensions: Establishing an Anthropometric Database [0.03%]
胎儿呼吸道尺寸的产前磁共振成像评估：建立人体测量数据库
Juliette Houssin,Ahmed El Ahmadi,Robinson Gravier-Dumonceau et al.
Juliette Houssin et al.
Objective: Fetal airway anomalies can severely impair breathing at birth, potentially causing brain injury or death. Thus, early prenatal diagnosis is essential. While MRI is the most effective imaging modality for evalua...
Artificial Intelligence as an Add-On Instrument in Fetal Ultrasound; Sonographers' and Obstetricians' Expectations [0.03%]
胎儿超声检查中人工智能的作用；医学超声波技师和妇产科医师的期望
Renée M Smit,Chiara C M M Lap,Rima Arnaout et al.
Renée M Smit et al.
Objective: Artificial intelligence applications (AIA) in fetal ultrasound are rapidly evolving, yet their integration into routine clinical practice remains limited. This study explores the attitudes, expectations and con...
Cytogenetic and Microarray Analysis Follow-Up of PGT-A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of Confirmation and Follow-Up Recommendations [0.03%]
胚胎植入前遗传学检测（PGT-A）嵌合及性别不符的胚胎在妊娠期间进行核型和微阵列分析随访：未得到证实与随访建议
Laura A Kline,Vanessa A Nitibhon,Erica L Soster et al.
Laura A Kline et al.
Objectives: The objective of this study was to examine the concordance of results between mosaic pre-implantation genetic testing for aneuploidy (PGT-A) and diagnostic testing in resulting pregnancies conceived by IVF wit...
Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses [0.03%]
先天性致死性挛缩症候群11的产前表型扩大：一个反复孕育患病胎儿的家庭中发现的新纯合GLDN变异
Ping Wang,Yan Wang,Jingjing He et al.
Ping Wang et al.
Case Reports
Prenatal diagnosis. 2026 Mar 28. DOI:10.1002/pd.70128 2026
Fetal Instability and Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis of 245 Fetal Cardiac and Spina Bifida Procedures [0.03%]
胎儿介入手术中胎儿不稳定及复苏处理：一项关于245例胎儿心脏和脊柱裂手术的回顾性描述性研究
Claire A Naus,Betul Yilmaz Furtun,Jessian L Munoz et al.
Claire A Naus et al.
Objective: The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management. ...
Prenatal Screening for Fetal X-Linked Ichthyosis: A Large Cohort Study Combining Non-Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis [0.03%]
胎儿X连锁鱼鳞病产前筛查：非侵入性产前检测与母体血清未结合雌三醇分析的大型队列研究
Miao Han,Min Chen,Yunqiu Du et al.
Miao Han et al.
Objective: This study aimed to evaluated the clinical utility of an integrated prenatal screening strategy combining non-invasive prenatal testing (NIPT) and maternal serum unconjugated estriol (uE3) quantification for de...
Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders [0.03%]
无小耳畸形的 prenatal 鼓环异常：对严重早期发生单基因病的重要产前征兆
Yung Hang Lam,Mengmeng Shi,Zirui Dong et al.
Yung Hang Lam et al.
Objective: To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second-trimester ultrasound in the absence of microtia. ...