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A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester
BackgroundAlthough the traditional contingent screening strategy is effective, there are still undetected low-risk trisomy 21. This study aims to...
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Post-operative anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery
Morgagni hernias account for less than 5% of congenital diaphragmatic hernias. They are characteristically retrosternal and bilateral, with...
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Hemophagocytic lymphohistocytosis in trisomy 21: successful treatment with interferon inhibition
BackgroundHemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of immune dysregulation primarily driven by the cytokine...
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Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13
ObjectiveTo investigate the effect of the presence or absence of fetal anomalies and soft markers diagnosed by ultrasound on positive predictive...
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Inherent genome instability underlies trisomy 21-associated myeloid malignancies
Constitutional trisomy 21 (T21) is a state of aneuploidy associated with high incidence of childhood acute myeloid leukemia (AML). T21-associated AML...
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Cerebral organoids with chromosome 21 trisomy secrete Alzheimer’s disease-related soluble aggregates detectable by single-molecule-fluorescence and super-resolution microscopy
Understanding the role of small, soluble aggregates of beta-amyloid (Aβ) and tau in Alzheimer’s disease (AD) is of great importance for the rational...
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Effect of trisomy 21 on long-term gastrointestinal outcomes in duodenal atresia
PurposeWe aimed to determine if Trisomy 21 (T21) affected gastrointestinal outcomes for children with duodenal atresia (DA).
MethodsWe identified...
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APP and DYRK1A regulate axonal and synaptic vesicle protein networks and mediate Alzheimer’s pathology in trisomy 21 neurons
Trisomy 21 (T21) causes Down syndrome and an early-onset form of Alzheimer’s disease (AD). Here, we used human induced pluripotent stem cells...
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A Risk Model for Predicting Fetuses with Trisomy 21 Using Alpha-Fetoprotein Variants L2 Combined with Maternal Serum Biomarkers in Early Pregnancy
To establish a risk prediction model and the clinical value of trisomy 21 using alpha-fetoprotein variants L2 (AFP-L2) combined with maternal serum...
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Unusual Presentations of Trisomy 21
Trisomy 21 is the most common aneuploidy in liveborn infants. Most of the soft markers for trisomy 21 are non-specific and transient. We present 2...
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Diffuse alveolar hemorrhage in children with trisomy 21
BackgroundRespiratory conditions are the leading cause of hospitalization and death in children with Trisomy 21 (T21). Diffuse alveolar hemorrhage...
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Aberrant right subclavian artery as soft marker in the diagnosis of trisomy 21 during the first trimester of pregnancy
PurposeAberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5–1.5% of the general population, being more...
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Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyoty**, interphase FISH, and MS-MLPA, which technique to choose?
ObjectiveThis study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing...
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Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case
18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome...
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Hypoxemia in infants with trisomy 21 in the neonatal intensive care unit
ObjectiveNewborns with trisomy 21 (T21) often require NICU hospitalization. Oxygen desaturations are frequently observed in these infants, even in...
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Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report
BackgroundMonozygotic twins are nearly identical in genotype and phenotype because monozygotic twins arise from one fertilized oocyte. In all cases...
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Non-mosaic trisomy 22 and congenital heart surgery using the shared decision making model: a case report
BackgroundLiveborn infants with non-mosaic trisomy 22 are rarely described in the medical literature. Reported lifespan of these patients ranges from...
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Use of VA ECMO and percutaneous palliation of ductal dependent coarctation in a neonate with trisomy 21 and COVID-19 pneumonia
We present a case of a neonate with trisomy 21, ductal-dependent aortic coarctation, and severe respiratory failure secondary to coronavirus disease...
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