Adalina Sacco,Deepika Pannu,Fred Ushakov et al.
Adalina Sacco et al.
Introduction: Fetal dural sinus thrombosis (DST) is a rare condition. Although numerous case reports exist, the findings appear heterogenous and providing accurate patient counselling remains challenging. ...
Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation [0.03%]
妊娠11-14周诊断的巨大膀胱胎儿的围生儿结局及预后因素分析
Cindy Kao,Julie Lauzon,Marie-Anne Brundler et al.
Cindy Kao et al.
Objectives: To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11-14 week's gestation. M...
Fetal neurodevelopmental recovery in donors after laser surgery for twin-twin transfusion syndrome [0.03%]
激光治疗双胎输血综合征供胎神经发育恢复的长期预后研究
Vidya Rajagopalan,Karam Ashouri,Arlyn Llanes et al.
Vidya Rajagopalan et al.
Background: Fetal magnetic resonance imaging (MRI) and spectroscopy (MRS) provide a unique opportunity to non-invasively measure markers of neurodevelopment in survivors of twin-twin transfusion syndrome (TTTS). ...
Peter Benn
Peter Benn
Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the context of contemporary views on the mechanism leading to ane...
Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease [0.03%]
先天性心脏病产前诊断的社会经济障碍
Matthew J Campbell,Scott Lorch,Jack Rychik et al.
Matthew J Campbell et al.
Objective: The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD). ...
Impact of mosaicism ratio on positive predictive value of cfDNA screening [0.03%]
嵌合体比例对无创产前筛查阳性预测值的影响分析
Jill M Rafalko,Samantha Caldwell,John Tynan et al.
Jill M Rafalko et al.
Objective: To examine the relationship between the fraction of cell-free DNA (cfDNA) affected by aneuploidy compared to the overall fetal fraction of a prenatal screening specimen and its effect on positive predictive val...
Rachel Mangels,Yair J Blumenfeld,Margaret Homeyer et al.
Rachel Mangels et al.
Objective: The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation. ...
Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis [0.03%]
细胞基非侵入性产前诊断在囊性纤维化风险妊娠中的应用
Line Dahl Jeppesen,Lotte Hatt,Ripudaman Singh et al.
Line Dahl Jeppesen et al.
Objective: We aimed to develop cell-based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants. Method: ...
Case Reports
Prenatal diagnosis. 2021 Jan;41(2):234-240. DOI:10.1002/pd.5861 2021
Fetal mitochondrial DNA in maternal plasma in surrogate pregnancies: Detection and topology [0.03%]
代孕妊娠期间母体血浆中胎儿线粒体DNA的检测及来源分析
Mary-Jane L Ma,Sergey Yakovenko,Haiqiang Zhang et al.
Mary-Jane L Ma et al.
Objectives: Due to the maternally-inherited nature of mitochondrial DNA (mtDNA), there is a lack of information regarding fetal mtDNA in the plasma of pregnant women. We aim to explore the presence and topologic forms of ...
Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult-onset findings from chromosomal-microarray-analysis [0.03%]
孕前个性化基因检测：夫妻对染色体微阵列分析结果不确定项和成人发病项的选择体验
Talya Millo,Liza Douiev,Dov Popper et al.
Talya Millo et al.
Background: Chromosomal-microarray-analysis (CMA) can identify variants of uncertain clinical significance, susceptibility-loci for neurodevelopmental conditions, and risk for adult-onset conditions. We explored choices m...