Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019) [0.03%]
产前微阵列检测:“英国经验”。一项关于英国遗传学服务中报告实践的调查(2012-2019年)
Jenny Patterson,Diana Wellesley,Sian Morgan et al.
Jenny Patterson et al.
Background: The value of chromosome microarray (CMA) in the prenatal detection of significant chromosome anomalies is well-established. To guide the introduction of this technique in routine clinical practice, the Joint C...
Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy [0.03%]
拷贝数变异的嵌合体比整倍体异染色体的嵌合体更难以解释
Ida C Bay Lund,Naja Becher,Jesper Graakjaer et al.
Ida C Bay Lund et al.
Objective: To compare mosaicisms in prenatal chorionic villus samples (CVSs) with corresponding postpartum placental samples. Method: W...
Incidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta [0.03%]
开放性脊柱裂胎儿胼胝体异常发生率及表现形式研究
Yada Kunpalin,Jan Deprest,Ioannis Papastefanou et al.
Yada Kunpalin et al.
Objective: To determine the incidence and characterise corpus callosum (CC) abnormalities in fetuses with spina bifida aperta (SBA) between 18 and 26 weeks of gestation. ...
Observational Study
Prenatal diagnosis. 2021 Jul;41(8):957-964. DOI:10.1002/pd.5945 2021
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered [0.03%]
产前诊断当前争议:除了13、18和21三体外,NIPT应该纳入其他疾病的筛查
Lieve Christiaens,Lyn S Chitty,Sylvie Langlois
Lieve Christiaens
Non-invasive prenatal testing (NIPT) based on analysis of cell free DNA circulating in the maternal plasma has been available clinically to screen for chromosomal abnormalities since 2011. There is significant evidence to suggest that NIPT ...
Interrater agreement for sonographic stomach position classification in fetal diaphragmatic hernia across the North American Fetal Therapy Network [0.03%]
北美胎儿治疗网络中胎儿膈疝超声胃定位分类的评分者间一致性分析
Nimrah Abbasi,Greg Ryan,Rodrigo Ruano et al.
Nimrah Abbasi et al.
Objective: To evaluate inter-rater agreement for sonographic classification of stomach position (as a surrogate for liver herniation) in fetal left congenital diaphragmatic hernia (LCDH) among: (i) fetal medicine speciali...
First trimester fetal proportion volumetric measurements using a Virtual Reality approach [0.03%]
基于虚拟现实技术的一胎胎儿比例体积测量
Clarissa J Wiertsema,Jan S Erkamp,Annemarie G M G J Mulders et al.
Clarissa J Wiertsema et al.
Objective: To establish feasibility and reproducibility of fetal proportion volumetric measurements, using three-dimensional (3D) ultrasound and a Virtual Reality (VR) system. ...
Fetoscopic urethral meatotomy in fetuses with lower urinary tract obstruction by congenital megalourethra [0.03%]
先天性巨大尿道症导致下尿路梗阻胎儿的胎镜下尿道切开术
Rogelio Cruz-Martínez,Miguel Martínez-Rodríguez,Alma Gámez-Varela et al.
Rogelio Cruz-Martínez et al.
Background: To describe the perinatal outcomes of fetoscopic urethral meatotomy (FUM) in fetuses with lower urinary tract obstruction (LUTO) by congenital megalourethra. ...
Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed [0.03%]
只分析合体滋养细胞或间充质细胞时羊水细胞传统核型分析的结果质量
Francesca Romana Grati,Francesca Malvestiti,Gloria Gallazzi et al.
Francesca Romana Grati et al.
Objective: To provide an estimation of the probability of error when chorionic villi (CV) cytogenetic analysis is limited to a single placental layer; either a direct preparation (Dir) or long-term culture (LTC). ...
Prenatal diagnosis and postnatal management of congenital mesoblastic nephroma: Experience at a single center in China [0.03%]
中国单中心先天性间叶性肾瘤的产前诊断与产后管理经验
Yan-Xiong Chen,Chao Huang,Qiu-Ming He et al.
Yan-Xiong Chen et al.
Objective: To review the prenatal and postnatal clinical characteristics and pathological subtypes, as well as the surgical outcome for congenital mesoblastic nephroma (CMN) cases. ...
Perinatal outcome of twin-to-twin transfusion syndrome complicated with incidental septostomy after laser photocoagulation: A systematic review and meta-analysis [0.03%]
激光光凝术后偶发胎盘交通的双胎输血综合征围生期结局的系统评价和meta分析
Ahmed A Nassr,Kamran Hessami,Sherif A Shazly et al.
Ahmed A Nassr et al.
Aim: To evaluate perinatal outcomes of incidental septostomy (IS) after laser photocoagulation for twin-to-twin transfusion syndrome (TTTS), and to compare the outcomes with those who had intact intertwin membrane. ...
Meta-Analysis
Prenatal diagnosis. 2021 Nov;41(12):1568-1574. DOI:10.1002/pd.5935 2021