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Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies.
Front Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.
Prenat Diagn
January 2025
Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results.
Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.
PLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
Imaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia.
Cells
January 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, WA 6009, Australia.
Acute lymphoblastic leukaemia is the most common childhood malignancy that remains a leading cause of death in childhood. It may be characterised by multiple known recurrent genetic aberrations that inform prognosis, the most common being hyperdiploidy and t(12;21) . We aimed to assess the applicability of a new imaging flow cytometry methodology that incorporates cell morphology, immunophenotype, and fluorescence in situ hybridisation (FISH) to identify aneuploidy of chromosomes 4 and 21 and the translocation .
View Article and Find Full Text PDFAnalysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencing.
Heliyon
January 2025
Molecular Diagnosis Center, Affiliated Qingyuan Hospital, Guangzhou Medical University (Qingyuan People's Hospital), 511518, Qingyuan, China.
Background: The fetal fraction (FF) is a critical factor influencing the performance of non-invasive prenatal testing (NIPT). Different NIPT methods and sequencing depths can lead to distinct minimum FF thresholds for Trisomy 21 (T21). This study aims to analyze the minimum FF thresholds for detecting T21 in PCR-free NIPT using a low-depth whole genome sequencing method.
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