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| http://dx.doi.org/10.1136/jmg.39.2.141 | DOI Listing |
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The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy.
Sci Rep
January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
View Article and Find Full Text PDFFeasibility and potential diagnostic value of [F]PI-2620 PET in patients with down syndrome and Alzheimer's disease: a case series.
Front Neurosci
January 2025
Department of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, Germany.
Purpose Of The Report: Adults with Down Syndrome (DS) have a substantially increased risk for Alzheimer's disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, tau PET assessments are not sufficiently implemented in DS-AD research or clinical work-up, and second-generation tau tracers such as [F]PI-2620 have not been thoroughly characterized in adults with DS. We aim at illustrating feasibility and potential diagnostic value of tau PET imaging with [F]PI-2620 for the diagnosis of DS-AD.
View Article and Find Full Text PDFVisualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results.
BMC Med Genomics
January 2025
Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, SE-751 85, Sweden.
Background: Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data.
View Article and Find Full Text PDFCaregivers' experience of having a child with Down syndrome: a meta-synthesis.
BMC Nurs
January 2025
Department of Nursing, Children's Hospital of Soochow University, No. 92 Zhong Nan Street, Soochow, Jiangsu Province, China.
Background: This study aimed to integrate the experiences of caregivers of children with Down syndrome during the care process and understand their feelings and needs.
Methods: We used Page et al.'s (2021) Preferred Reporting Items for Systematic Reviews and Meta-synthesis Statement.
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
Mol Genet Genomic Med
January 2025
Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Background: Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Materials And Methods: In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection.
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