Celocentesis for Prenatal Diagnosis of Rare Monogenic Diseases: Development, Validation, and Clinical Outcome on 876 Cases [0.03%]
用于罕见单基因疾病产前诊断的细胞-free胎儿游离DNA检测技术的发展、验证及临床结果（876例报告）
Antonino Giambona,George Makrydimas,Aurelio Maggio et al.
Antonino Giambona et al.
Objective: To report on the development, validation, and clinical outcomes of 876 consecutive cases of prenatal diagnosis of rare monogenic diseases using celocentesis. ...
Prenatal Screening for Common Aneuploidy in Southeast Asian Countries: A Systematic Review of Challenges and Opportunities [0.03%]
东南亚国家针对常见染色体异常的产前筛查：挑战与机遇的系统评价
Rapphon Sawaddisan,Lucinda Freeman,Erin Turbitt et al.
Rapphon Sawaddisan et al.
Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this...
A Novel PPP1R12A Splice-Site Variant Identified in a Female Fetus With Perineal Hamartoma [0.03%]
PERINEAL海绵状 hamartoma女胎儿PPP1R12A新拼接变异体1例
Shiyu Chen,Xi Tan
Shiyu Chen
Case Reports
Prenatal diagnosis. 2026 May 21. DOI:10.1002/pd.70183 2026
Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing [0.03%]
严重早期胎儿生长受限的产前和产后遗传学检测的临床价值评估
Matthew H Mossayebi,Sophie J Adams,Megan E Bunnell et al.
Matthew H Mossayebi et al.
Objectives: We evaluated the diagnostic yield of karyotype (KT) and chromosomal microarray (CMA) with isolated severe FGR diagnosed before 32 weeks' gestation. Exome and genome sequencing (ES/GS) level data were available...
Prenatal Phenotype of a Heterozygous de Novo Missense COL4A1 Variant in a Fetus With Pleural Effusion, Ascites, Increased Placental Thickness, Decreased Amniotic Fluid, and Cerebral Structural Malformations [0.03%]
COL4A1新生错义杂合变异的产前表型：一例胸腔积液、腹水、胎盘厚度增加、羊水减少和脑结构畸形胎儿的病例报告
Jieni Jiang,Rong Xu,Haixia Zhang et al.
Jieni Jiang et al.
Case Reports
Prenatal diagnosis. 2026 May 18. DOI:10.1002/pd.70174 2026
High Risk for Rare Autosomal Trisomies Detected by Non-Invasive Prenatal Testing: Prenatal Diagnosis and Pregnancy Outcomes [0.03%]
非整倍体罕见病高风险的无创产前筛查与诊断及妊娠结局分析
Zihan Jiang,Wanjun Wang,Ying Zhang et al.
Zihan Jiang et al.
Objective: To investigate the incidence, positive predictive value (PPV) and pregnancy outcomes of rare autosomal trisomies (RATs) identified by non-invasive prenatal testing (NIPT). ...
Prenatal Diagnosis and Management of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Imaging Features and First Experience With Maternal Sirolimus Therapy [0.03%]
胎儿血管内皮瘤的产前诊断及治疗——影像学特征及母亲使用西罗莫司治疗首例报告
Antoine Fraissenon,Chris Minella,Marion Bordas-Fournel et al.
Antoine Fraissenon et al.
Objective: To describe the prenatal diagnosis, evolution, and perinatal management of kaposiform hemangioendothelioma (KHE) complicated by the Kasabach-Merritt phenomenon (KMP), and to report the first documented use of m...
Prenatal Diagnosis of Conotruncal Anomalies Before 16 Weeks: Longitudinal Evolution, Genetic Findings and Early Prognostic Markers [0.03%]
孕16周前先天性大动脉畸形的产前诊断：纵向演变、遗传发现及早期预后标志物
Paolo Volpe,Mariachiara Bosco,Valentina De Robertis et al.
Paolo Volpe et al.
Objective: To assess the natural history of conotruncal anomalies (CTA) diagnosed by early fetal echocardiography, focusing on lesion progression and genetic findings. A secondary aim was to develop nomograms for great ar...
MRI in Sheep Model for Myelomeningocele Repair Using a Novel Polymer and Other Dural Patches [0.03%]
用于脊膜膨出修补的新型聚合物和其他脊膜片的羊模型磁共振成像研究
Usha D Nagaraj,Marc Oria,Soner Duru et al.
Usha D Nagaraj et al.
Objective: To compare postnatal MRI outcomes after prenatal myelomeningocele repair using three different dural substitutes. Method: 32...
Impact of Fetoscopic Surgery on the Myometrium: Experimental Study in an Ovine Model of Myelomeningocele [0.03%]
胎儿镜手术对子宫平滑肌的影响：羊水栓塞的卵形模型实验研究
Enora Parc,Eugénie Jolivet,Corentin Maillet et al.
Enora Parc et al.
Objective: To investigate uterine healing at delivery after fetoscopic myelomeningocele (MMC) closure in an ovine model. Methods: This ...