Prenatal Screening Via cfDNA - Paired-End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies [0.03%]
无创产前检查中利用片段大小信息的paired-end测序可降低性染色体异常的高风险率
Susan Hancock,Franchesca Liao,Theresa Boomer et al.
Susan Hancock et al.
Objective: Prenatal cfDNA screening has transformed care, yet it remains difficult to determine whether X aneuploidy signals originate from the patient or fetus, inflating screen positive and false positive rates. One pot...
Association Between Fetal Pulmonary Artery Acceleration Time/Ejection Time Ratio and Postnatal Inhaled Nitric Oxide Requirement in Surviving Infants With Left-Sided Congenital Diaphragmatic Hernia [0.03%]
左侧先天性膈疝存活婴儿肺动脉射血时间加速时间比与吸入一氧化氮需求之间的关联研究
Kyoko Namimatsu,Yuka Yamamoto,Rie Seyama et al.
Kyoko Namimatsu et al.
Objective: To evaluate whether fetal pulmonary artery (PA) measurements and PA Doppler parameters such as acceleration time/ejection time (AT/ET) ratio predict respiratory outcomes in surviving neonates with left-sided co...
Fetal Cranial Biometric Abnormalities: The Value of Routine Ultrasound for Early Diagnosis of Glutaric Acidemia Type 1 [0.03%]
胎颅部生物测量异常：常规超声筛查早期诊断戊二酸血症Ⅰ型的价值
Shunan Wang,Xiangli Meng,Xiaoxiao Zhang et al.
Shunan Wang et al.
Objective: Glutaric acidemia type 1 (GA-1) is a severe, life-threatening organic acidemia. This study aimed to evaluate fetal ultrasound findings as early clues for GA-1. ...
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia [0.03%]
胎儿贫血治疗的脑损伤神经影像学表现和危险因素
Laurence Sophie Carmant,Carlos Robles,Seungwoo Lee et al.
Laurence Sophie Carmant et al.
Objective: Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods: Retrospective coh...
Deep Learning-Based Segmentation of Fetal Anatomical Structures in the First Trimester [0.03%]
基于深度学习的早期妊娠胎儿解剖结构分割技术
Subeen Hong,Oyoung Kim,Byung Soo Kang et al.
Subeen Hong et al.
Objectives: To develop and evaluate an artificial intelligence (AI) system that automatically identifies and classifies the fetal structures in the first trimester. ...
Prenatal Diagnosis of Ververi-Brady Syndrome Associated With a Novel Nonsense QRICH1 Variant: A Case Presentation [0.03%]
Ververi-Brady综合征新型QRICH1终止密码变异的产前诊断：病例报告
Hong-Yu Luo,Dan-Ping Huang,Qiu-Xia Yu et al.
Hong-Yu Luo et al.
Case Reports
Prenatal diagnosis. 2026 May 5. DOI:10.1002/pd.70166 2026
Lyn S Chitty
Lyn S Chitty
Editorial
Prenatal diagnosis. 2026 May 4. DOI:10.1002/pd.70158 2026
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board [0.03%]
高度近亲繁殖人群中产前护理的变革：多学科委员会的影响
Abdullah H Alfalah,Hamad Alzaidan,Ahmed Alfares et al.
Abdullah H Alfalah et al.
Objective: This study aims to evaluate the outcomes of a new PND initiative designed to optimize healthcare delivery in a highly consanguineous population. ...
The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa [0.03%]
南非豪登省孕期医疗提供者使用遗传咨询服务中心的情况
Megan Duvenhage,Katryn Fourie,Monica Araujo
Megan Duvenhage
Introduction: Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low- and middle-income countries. Prenatal healthcare providers play a key role in id...
Prenatal Diagnosis of Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations [0.03%]
胎儿1型神经纤维瘤病的产前诊断：散发性胎儿发病无特殊产前表现
Qiu-Xia Yu,Xiang-Yi Jing,Zhi-Qing Xiao et al.
Qiu-Xia Yu et al.
Objective: To present the indications for prenatal diagnosis (PND) of neurofibromatosis type 1 (NF1) in a Chinese referral medical center. Method: ...