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 ...
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification [0.03%]
孕前肝板畸形复发导致PKHD1变异重新分类
Mario Abaji,Laurent Nasca,Marie-Pierre Audrezet et al.
Mario Abaji et al.
Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum o...
Case Reports
Prenatal diagnosis. 2025 Oct 3. DOI:10.1002/pd.6896 2025
Brachytelephalangic Chondrodysplasia Punctata Phenotype in Prenatally Diagnosed VKCFD1: A Novel GGCX Variant [0.03%]
妊娠期诊断的VKCFD1型短指性软骨发育不全样表型：GGCX新突变导致的疾病
Albert Jacob,Arthy Raman,Sree Rekha Jinkala et al.
Albert Jacob et al.
Case Reports
Prenatal diagnosis. 2025 Oct 1. DOI:10.1002/pd.6903 2025
Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries [0.03%]
大动脉转位胎儿大脑中动脉峰值收缩期血流速度的研究
Ditte S Jørgensen,Charlotte K Ekelund,Lone Nørgaard et al.
Ditte S Jørgensen et al.
Objective: To examine peak systolic velocity in the middle cerebral artery (MCA-PSV) in fetuses with transposition of the great arteries (TGA) and evaluate if TGA is associated with fetal anemia. ...
Fetoscopic Laser Ablation of Type II Vasa Previa-Case Report and Systematic Review [0.03%]
胎儿镜下II型前置胎盘血管激光凝固术：病例报告和系统性回顾
Rodrigo Ruano,Olivia Mihulka,Aishu Hombal et al.
Rodrigo Ruano et al.
Vasa previa is a rare but potentially fatal obstetric condition in which fetal vessels traverse the internal cervical os without the protection of placental tissue or Wharton's jelly, making them highly vulnerable to rupture during labor or...
Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies [0.03%]
循环低胎儿游离DNA片段率的临床意义：一项关于40716例妊娠的大规模回顾性队列研究
Kayono Yamamoto,Nobuhiro Suzumori,Kiyonori Miura et al.
Kayono Yamamoto et al.
Objective: This study aimed to investigate the association between fetal fraction (FF) on non-invasive prenatal testing (NIPT) and pregnancy-related complications using a large sample to support improved prenatal manageme...
Outcome of Rare Fetal Septal and Callosal Anomalies: A Systematic Review and Meta-Analysis [0.03%]
罕见胎儿隔膜和胼胝体异常结局的系统评价和 meta 分析
Marina Piergianni,Asma Khalil,Giuseppe Rizzo et al.
Marina Piergianni et al.
Objectives: To report the outcome of isolated rare anomalies of the cavum septi pellucidum (CSP) and corpus callosum (CC), including obliterated CSP, septal agenesis, hypoplasia of the CC, pericallosal lipoma, thin and th...
Congenital Vascular Anomalies: Prenatal Diagnosis, Perinatal Outcome and Postnatal Follow up [0.03%]
先天性血管异常：产前诊断、围生期结局和产后随访
Stefano Faiola,Vittoria Baraldini,Fiorenza Di Domenico et al.
Stefano Faiola et al.
Objective: The aims of this study were to evaluate positive predictive value (PPV) of prenatal diagnosis in congenital vascular anomalies (CVAs) and to conduct postnatal follow-up. ...