Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β-thalassemia by a novel method of noninvasive prenatal testing [0.03%]
一种新型无创产前检测方法同时筛查胎儿染色体非整倍体、新生FGFR3突变及父系遗传β-地贫
Lin Yang,Yujing Wu,Zhiyang Hu et al.
Lin Yang et al.
Objective: The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of de novo and paternally derived mutations. ...
Prenatal array comparative genomic hybridization in a well-defined cohort of high-risk pregnancies. A 3-year implementation results in a public tertiary academic referral hospital [0.03%]
产前基因组拷贝数分析在一组高危妊娠人群中的应用——美国一所三级公共教学医院三年来的经验报告
Laura M Tanner,Tiina Alitalo,Vedran Stefanovic
Laura M Tanner
Objective: To find out whether the diagnostic yield of prenatal array comparative genomic hybridization (aCGH) can be improved by targeting preselected high-risk pregnancies. ...
Elizabeth L Digby,Jessica Liauw,Janis Dionne et al.
Elizabeth L Digby et al.
Objectives: To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK). Methods: We conducted a retrospective chart rev...
Amanda Brasil de Freitas,Rossana Pulcineli Vieira Francisco,Sandra Frankfurt Centofanti et al.
Amanda Brasil de Freitas et al.
Objective: The purpose of this study was to describe the genomic deoxyribonucleic acid (DNA) methylation profile in fetuses with gastroschisis, determine whether the profile was inherited, and investigate any possible cor...
Biometric assessments of the posterior fossa by fetal MRI: A systematic review [0.03%]
胎儿磁共振成像后颅窝畸形生物测量的系统评价
Katie Mckinnon,Giles S Kendall,Cally J Tann et al.
Katie Mckinnon et al.
Background: Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior ...
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review [0.03%]
染色体8三体型胎盘嵌合体的丹麦队列研究及文献回顾——37例报告
Simon Horsholt Thomsen,Ida Charlotte Bay Lund,Christina Fagerberg et al.
Simon Horsholt Thomsen et al.
Objective: To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS). Methods: ...
Corinna Simonini,Brigitte Strizek,Christoph Berg et al.
Corinna Simonini et al.
Objective: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal teratomas of various locations in a single center between 2002 and 2019. ...
Observational Study
Prenatal diagnosis. 2021 Feb;41(3):301-307. DOI:10.1002/pd.5872 2021
Extracardiac Doppler indices predict perinatal mortality in fetuses with Ebstein anomaly and tricuspid valve dysplasia [0.03%]
胎儿艾森曼格综合征和三尖瓣发育不全的围产期死亡预测指标研究
Shuo Wang,Lindsay R Freud,Jon Detterich et al.
Shuo Wang et al.
Objectives: Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) carry high perinatal mortality. Past studies have focused on cardiac predictors of mortality; we sought to describe the fetal echo (FE) extracardiac Doppl...
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery [0.03%]
对还是错？回顾十年前对于产前诊断及胎儿外科的展望分析
Lyn S Chitty,Alessandro Ghidini,Jan Deprest et al.
Lyn S Chitty et al.
Trends in prenatal diagnosis: An analysis of 40 years of Medical Subject Heading (MeSH) terms in publications [0.03%]
产前诊断趋势：对40年文献中医学主题词表(MeSH)的分析
Ya-Ling Lu,Diana W Bianchi
Ya-Ling Lu
Objective: To understand the evolution of the field of prenatal diagnosis over the past four decades. Method: We analyzed the publicati...