Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis [0.03%]
全基因组细胞游离DNA分析在流产染色体非整倍体检测中的性能评估meta分析
Montse Pauta,Raigam J Martinez-Portilla,Ana Cecilia Jara-Ettinger et al.
Montse Pauta et al.
Objective: To conduct a systematic review and meta-analysis of published series examining the efficacy of genome-wide cell-free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage. ...
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth [0.03%]
用于畸形胎儿和正常胎儿及死产的外显子组测序的诊断意义
Roni Zemet,Christian M Parobek,April D Adams et al.
Roni Zemet et al.
Objective: Exome sequencing (ES) benefits the genetic work-up for fetuses with structural anomalies, but data on its utility for fetuses without anomalies and stillbirths is more limited. We report our experience with pre...
Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics [0.03%]
胎儿先天性心脏病妊娠并发症的原因是早期共同的发育途径而不是胎儿血液动力学
Maartje C Snoep,Damla Demir,Anouk M C Roestenburg et al.
Maartje C Snoep et al.
Objective: The aim of this study was to compare placenta-related complications (adverse placental syndrome) between different types of fetal CHD based on cardiac hemodynamics. ...
Maya Rawal,Stephanie Galloway,Michelle E Florido et al.
Maya Rawal et al.
Objective: This study investigated existing practices and institutional guidelines on prenatal diagnostic testing (PND) for adult-onset neurodegenerative disease (AOND) to identify points of consensus, disparities, and ar...
Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review [0.03%]
在母体游离DNA中筛查胎儿从头和父亲传来的致病性单核苷酸变异可行吗？系统文献回顾
Kristína Valovičová,Karin E M Diderich,Wichor M Bramer et al.
Kristína Valovičová et al.
Objective: Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently ...
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study [0.03%]
胎儿巨颅的产前外显子组测序：一项大规模前瞻性队列研究
Hang Zhou,Fang Fu,Ruibin Huang et al.
Hang Zhou et al.
Objective: To assess the diagnostic utility of exome sequencing (ES) in macrocephalic fetuses. Methods: Fetuses with macrocephaly (head...
Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End-Diastolic Umbilical Artery Flow: Proximate Cord Insertion Is a Key Risk Marker [0.03%]
适当的单绒毛膜双胎妊娠中脐动脉血流间歇性消失或倒置的危险因素：近端脐带附着为重要的预测指标
Cesar Meller,Horacio Aiello,Juan Otaño et al.
Cesar Meller et al.
Differences in Prenatal and Postnatal Phenotypic Evaluations in Patients With Congenital Anomalies and Known Genetic Diagnoses [0.03%]
先天性疾病且已知遗传诊断患者孕期及出生后表型评估的差异
Nicole Horton,Leandra Tolusso,Kimberly Widmeyer et al.
Nicole Horton et al.
Objectives: Gaps exist in the understanding of the presentation of genetic conditions across the lifespan, especially the prenatal period. This study describes the limitations of prenatal phenotyping among neonates with g...
Prediction of Preeclampsia in Twins Using First Trimester: cffDNA Fraction, PlGF, and MAP [0.03%]
基于cffDNA分数、PlGF和MAP预测双胞胎子痫前期
Ran Svirsky,Adi Sharabi-Nov,Ron Maymon et al.
Ran Svirsky et al.
Objectives: To evaluate cell-free fetal DNA fraction (cffDNAF) as a first-trimester screening marker for preeclampsia necessitating delivery before 37 weeks' gestation in twin pregnancies alone and combined with other bio...
Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study [0.03%]
胎儿脑室增宽的临床预后及影响预后的因素分析：一项回顾性的多中心研究
Anouk Moens,Zoe Albersnagel,Marieke B Veenhof et al.
Anouk Moens et al.
Objective: To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective...