Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India-An LMIC Setting-Over Half a Decade [0.03%]
印度单基因疾病产前诊断的趋势与挑战——一个中低收入国家的设置——半个世纪以来的观察
Lois Sara James,Noel Deep Luke,Eunice Sindhuvi et al.
Lois Sara James et al.
Objectives: To study the overall trends, indications, timing, mode of testing, geographical distribution of cases and challenges in prenatal diagnosis (PND) of single gene conditions using invasive fetal testing in India ...
Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature [0.03%]
horseshoe肺的产前诊断：3例报告及文献复习
Benjamin Birene,Paul Maurice,Catherine Garel et al.
Benjamin Birene et al.
Objective: Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome. ...
Evaluation of Non-Immune Fetal Hydrops in Resource Poor Country: Challenges Faced in Ascertaining the Etiology [0.03%]
资源匮乏国家非免疫性胎儿水肿病因诊断面临的挑战
Mamatha Gowda,Avantika Gupta,H V Shreyanka et al.
Mamatha Gowda et al.
Objective: Analyze the proportion of cases of non-immune hydrops fetalis (NIHF), where etiology could be ascertained using limited tests and determine outcome. ...
Clinical Laboratory Experience With Prenatal cfDNA Screening in Triplet Pregnancies [0.03%]
三胎妊娠 prenatal cfDNA筛查的临床实验经验
Erica Soster,Brittany Dyr,Samantha Caldwell et al.
Erica Soster et al.
Objective: Prenatal cfDNA screening is the most sensitive and specific screen for common aneuploidies in singleton and twin pregnancies and has been endorsed by several professional societies as a first-tier screen or con...
Reporting Criteria for Prenatally Identified Variants of Uncertain Significance Differs Among Cytogenetics Laboratories in North America [0.03%]
北美细胞遗传学实验室对产前识别的变异意义不确定的报告标准存在差异
Matthew A Shear,Arun P Wiita,Jingwei Yu et al.
Matthew A Shear et al.
Objective: Current technical standards for chromosomal microarray (CMA) interpretation are not prescriptive for reporting variants of uncertain significance (VUS) identified prenatally. We sought to compare prenatal CMA r...
Médéric Jeanne,Wendy K Chung
Médéric Jeanne
Objective: Fetal gene therapy represents a promising approach to treat severe congenital disorders by intervening during a critical developmental period. This review aims to explore the unique advantages, specific applica...
Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys-Dietz Syndrome [0.03%]
产前检测到与严重脑室扩张和勒欧斯-迪茨综合征相关的TGFBR1变异型
Mia B Hodges,Sally Harris,Brianna Murphy et al.
Mia B Hodges et al.
Objectives: To report a novel prenatal presentation of Loeys-Dietz Syndrome type 1 (LDS1), characterized by severe ventriculomegaly and macrocephaly, associated with a likely pathogenic variant in the TGFBR1 gene. ...
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis [0.03%]
与胼胝体发育不良和中脑导水管狭窄相关的KIDINS220基因变异
Kimia Ghannad-Zadeh,Patrick Shannon,Rebekah Jobling et al.
Kimia Ghannad-Zadeh et al.
KIDINS220 plays a key role in neuronal survival, differentiation, and synaptic function. Abnormalities in its expression have been linked postnatally to neurodevelopmental disorders and SINO syndrome though prenatal presentations are rarely...
Case Reports
Prenatal diagnosis. 2025 May 2. DOI:10.1002/pd.6804 2025
Virtual Reality Simulation in Teaching Fetoscopic Laser Placental Photocoagulation in Twin-To-Twin Transfusion Syndrome [0.03%]
虚拟现实模拟在双胎输血综合征胎儿镜激光治疗教学中的应用
Catherine Windrim,Colin Charleson,David Rojas Gualdron et al.
Catherine Windrim et al.
Objective: To develop and validate a novel virtual reality (VR) simulation system for training fetoscopic laser placental photocoagulation in twin-to-twin transfusion syndrome (TTTS). ...
Fetal Endoscopic Tracheal Occlusion (FETO) for Left and Right Congenital Diaphragmatic Hernia in Canada [0.03%]
加拿大胎儿内镜下气管阻塞术(FETO)治疗膈疝疗效分析
Yada Kunpalin,Anna Otvodenko,Tim Van Mieghem et al.
Yada Kunpalin et al.
Objective: To describe perinatal and short-term pediatric outcomes and procedural safety of fetal endoscopic tracheal occlusion (FETO) in a Canadian national referral centre. ...