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Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
A population of more than six million people worldwide at high risk of Alzheimer’s disease (AD) are those with Down Syndrome (DS, caused by trisomy...
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Van Wyk-Grumbach syndrome in a female pediatric patient with trisomy 21: a case report
BackgroundChildren with hypothyroidism typically present with delayed growth and development, but on rare occasions can present with signs of...
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Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort
To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the...
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Trisomy 21 is Associated with Caspase-2 Upregulation in Cytotrophoblasts at the Maternal-Fetal Interface
Impaired placentation is implicated in poor perinatal outcomes associated with Trisomy 21. Earlier studies revealed abnormal cytotrophoblast...
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A novel artificial intelligence model for fetal facial profile marker measurement during the first trimester
BackgroundTo study the validity of an artificial intelligence (AI) model for measuring fetal facial profile markers, and to evaluate the clinical...
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Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
BackgroundSystemic lupus erythematosus is a multi-organ inflammatory autoimmune disease; immune complexes are part of the pathogenesis, but not...
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Clinical value of fetal facial profile markers during the first trimester
ObjectivesTo study the correlations between facial profile markers and crown-lump length (CRL) in a Chinese population, and to evaluate the clinical...
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The value of combined detailed first-trimester ultrasound–biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing
PurposeThis study aimed to investigate the performance, cost-effectiveness and additional findings of combined detailed ultrasound and biochemical...
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A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester
Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology...
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The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study
PurposeCongenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down’s syndrome, in around a third of infants. The aim of this...
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Cardiac anomalies in children with congenital duodenal obstruction: a systematic review with meta-analysis
BackgroundCardiac anomalies occur frequently in patients with congenital duodenal obstruction (DO). However, the exact occurrence and the type of...
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Outcomes of surgical revascularization for pediatric moyamoya disease and syndrome
PurposeMoyamoya disease and syndrome represent rare entities characterized by progressive stenosis and/or occlusion of the intracranial blood...
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Performance of noninvasive prenatal testing for twin pregnancies in South China
Abstract ObjectiveThe purpose of this study was to evaluate the performance of noninvasive prenatal testing (NIPT) for the detection of chromosomal...
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Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report
BackgroundAneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down...
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Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children’s hospitals neonatal intensive care units (NICUs)
ObjectivesTo examine characteristics and outcomes of T18 and T13 infants receiving intensive surgical and medical treatment compared to those...
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Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters
BackgroundPolycystic ovary syndrome (PCOS) is characterized by insulin resistance and hormonal disorder in women. This study aimed to assess the...
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Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age
BackgroundPathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal...
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