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. ...
Fetal Anemia and Periventricular Hyperechogenicity/Halo as a Prenatal Indicator of CoQ10 Deficiency Associated With Biallelic Variant in COQ2 Gene [0.03%]
胎儿贫血和脑室周围高回声/晕征作为辅酶Q10缺乏的产前指标：COQ2基因双等位基因变异相关性研究
Shreyasi Sharma,Chanchal Singh,Vrunda Appannagari et al.
Shreyasi Sharma et al.
Coenzyme Q10 (CoQ10) is crucial for mitochondrial function, and its deficiency leads to diverse clinical manifestations. Prenatal phenotypes are rarely described, with no prior reports of fetal anemia. We present a case of a 24-year-old pri...
Case Reports
Prenatal diagnosis. 2025 Sep 26. DOI:10.1002/pd.6894 2025
Prenatal Evaluation of Scrotal Masses: A Systematic Literature Review [0.03%]
prenatal evaluation of scrotal masses: a systematic literature review出生前阴囊肿块的系统文献回顾
Federica Romanzi,Chiara Di Ilio,Chiara Airoldi et al.
Federica Romanzi et al.
Evaluation of fetal genitalia is often neglected after determining fetal sex, yet the identification of a scrotal mass may suggest significant underlying conditions requiring specific management. We conducted a systematic literature review,...
Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study [0.03%]
胎儿游离DNA产前筛查正常时的染色体异常残余风险：一项回顾性研究
Adriana I Iglesias,Diane Van Opstal,Florentine F Thurik et al.
Adriana I Iglesias et al.
Objectives: To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell-free DNA (cfDNA) screening results to refine prenatal counseling. ...