A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction [0.03%]
WBP11新发致病变异导致胎儿脑囊性畸形和生长受限
Gulvir Gill,Kelly O&#x;Donovan,Dina Rubinfeld et al.
Gulvir Gill et al.
We report the first prenatal diagnosis of a de novo WBP11 variant in a fetus with growth restriction and structural brain anomalies. The case highlights the challenges of counselling with a new and evolving gene-disease association. ...
Case Reports
Prenatal diagnosis. 2025 Nov 3. DOI:10.1002/pd.70015 2025
Sara G Vargo,Daniella Rogerson,Patrick Devine et al.
Sara G Vargo et al.
Objective: We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal ...
Shortened and Hypomineralized Bones, Renal Agenesis, and a Heart Defect: Prenatal Diagnosis of a GLI3 Variant [0.03%]
GLI3变异的产前诊断：短肢、低钙化骨、肾发育不全和心脏畸形
Alexandra M Dinu,Yair J Blumenfeld,Carly M Smith
Alexandra M Dinu
Clinical Trials of Fetal Therapy With Continuing Neonatal Interventions: Legal Requirements and Customary Procedures Regarding Parental Consent. The BOOSTB4 Trial as a Case Study [0.03%]
胎儿治疗伴随持续新生儿干预的临床试验中的法律要求和惯例程序：以BOOST B4试验为例研究父母同意问题
Esther J Oldekamp,Martine C de Vries,Anna L David et al.
Esther J Oldekamp et al.
Objective: To analyze the legal consent requirements and customary procedures in clinical trials of fetal therapy with continuing neonatal interventions across four European countries using the BOOSTB4 trial as a case stu...
Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease [0.03%]
赖伯-泰耶布综合征的产前诊断(报道一罕见病12例)
Qiu-Xia Yu,Xiang-Yi Jing,Zhi-Qing Xiao et al.
Qiu-Xia Yu et al.
Objective: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Rubinstein-Taybi syndrome (RSTS). Methods: ...
Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant [0.03%]
孕前诊断Joubert综合征23型伴左异构症：KIAA0586变异致病新表型的产前诊断报告
Tamara Casteleyn,Markus Vogt,Alexander Weichert et al.
Tamara Casteleyn et al.
Joubert syndrome is a rare autosomal recessive ciliopathy defined by the "molar tooth" sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586...
Case Reports
Prenatal diagnosis. 2025 Oct 28. DOI:10.1002/pd.70008 2025
Predictors of Adverse Perinatal Outcome in Twin Anemia Polycythemia Sequence: Evidence From a Single Center Cohort Study [0.03%]
双胎贫血-多血序列不良围生期结局的危险因素分析：单中心队列研究证据
Keren Zloto,Noa Rosenthal,Stav Cohen et al.
Keren Zloto et al.
Objective: To evaluate the perinatal outcome of monochorionic pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) and identify prognostic factors associated with adverse outcomes. ...
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications [0.03%]
针对结构异常胎儿的产前外显子组测序分析：一项具有实践意义的多中心前瞻性队列研究
Yulin Jiang,Haibo Li,Xiangyu Zhu et al.
Yulin Jiang et al.
Objective: To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES-CNV/SNV) in fetuses with structural anomalies follow...
A Novel Homozygous Frameshift Variant in the FLVCR1 Gene Is Associated With Prenatal Microcephaly, Multiple Brain Structural Anomalies, and Abnormal Foot Posture [0.03%]
FLVCR1基因纯合子移码突变与宫内小头畸形、多发脑结构异常及足部姿势异常相关
Jing Chen,Hongjing Wang,Xin Chen et al.
Jing Chen et al.
We present a fetus in which, during the second trimester, ultrasound examination revealed multiple structural brain abnormalities and abnormal foot posture. Trio whole-exome sequencing (trio-WES) identified a novel homozygous frameshift var...
Case Reports
Prenatal diagnosis. 2025 Oct 14. DOI:10.1002/pd.70005 2025
Fetal Pancreas in Growth Restriction: A Prenatal Window Into Metabolic and Genetic Risk [0.03%]
生长受限胎儿胰腺：代谢和遗传风险的产前窗口
Hadas Miremberg,Catharina Bobrow,Noa Feldman et al.
Hadas Miremberg et al.
Objective: Animal models have demonstrated impaired pancreatic islet development in fetal growth restriction (FGR) cases, which can become apparent at or before birth and persist into adulthood, resulting in glucose intol...