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...
PRKAG2 Syndrome Presenting With Fetal Sinus Bradycardia and Pulmonary Valve Stenosis as Initial Manifestations [0.03%]
以胎儿窦性心动过缓和肺瓣狭窄为初始表现的PRKAG2综合征
Jiangping Wu,Shuran Shao,Kaiyu Zhou et al.
Jiangping Wu et al.
This report describes a novel prenatal presentation of PRKAG2 syndrome in a female. Delivered at 37 weeks, she had severe pulmonary valve stenosis, successfully treated with balloon dilation at one month. Early childhood featured persistent...
Case Reports
Prenatal diagnosis. 2025 Oct 11. DOI:10.1002/pd.6906 2025
Performance of Prenatal Cell-Free DNA Screening for Foetal Chromosome Aneuploidies and Microdeletion/Microduplication Syndromes: A Retrospective Study of 64,482 Consecutive Cases From a Prenatal Diagnosis Centre in China [0.03%]
中国产前诊断中心64482例孕产妇外周血游离DNA检测胎儿染色体非整倍体和微缺失/微重复综合征的临床研究回顾性分析
Feiyan Pan,Xuejiao Chen,Yuanyuan Ying et al.
Feiyan Pan et al.
Objective: Prenatal cell-free DNA (cfDNA) screening has shown high accuracy for common trisomies, but its application in screening for sex chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs) or microdeletio...
Placental and Fetal Brain Volumes in Congenital Heart Disease Are Smallest Among Fetuses With Genetic Abnormalities [0.03%]
染色体异常先天性心脏病胎儿胎盘和脑体积较小
Sonali Ajwani,Erica L Jamro,Kaylin Taylor et al.
Sonali Ajwani et al.
Objective: To compare placental volumes between pregnancies with and without fetal CHD, including fetuses with CHD and genetic abnormalities, and to investigate the association between placental volume and regional fetal ...