In women identified by biochemical and/or sonographic screening to be at increased risk for such aneuploidies, prenatal diagnosis then involves invasive testing by chorionic villus sampling or amniocentesis. The gold standard for prenatal diagnosis of chromosome abnormalities is the conventional cytogenetic ...
After discovering the cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women17, there has been tremendous development in the prenatal diagnosis using cffDNA8,12,18. The first NIPT using cffDNA was performed to determine fetal sex17and RhD status19,20. The application of NIPT...
摘要 伴随着1997年于孕妇的外周血中发现胎儿来源的基因片段(cfDNA)以及基因组测序技术、生物信息学技术的不断进步,无创性产前诊断技术(non—invasive prenatal testing,NIPT)得以迅速发展。N...展开更多 With the discovery of fetal fraction of cell free DNA (cfDNA) from plasma of pregnant women in 1997 and...
In December 2022, the American College of Medical Genetics and Genomics recommended that all pregnant women be offered non-invasive prenatal testing (NIPT) over traditional screening methods in its Evidence-Based Clinical Practice Guideline (EBG). BGI Genomics has been at the forefront of offering N...
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessi
Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. Method 362 fetuses were...
NIPT in a way that facilitates informed and autonomous decisions is imperative to the ethical application of this technology. We approach this imperative by systematically reviewing and synthesizing primary qualitative research on women’s experiences with and preferences for informed decision-making around...
Progress in Clinical Application of Chromosome Karyotype Analysis Combined with CNV-seq Technique in Prenatal Diagnosis of NIPT High-risk Pregnant Women/LI Yongjian, YAN Liqiong, ZHU Zhaoying. //Chinese and Foreign Medical Research, 2023, 21(19): 180-184 [Abstract] In recent years, chromos...
Boy or Girl? Scientific research reveals the influence of environment, temperature, sports and so on!Back25 / 03 / 2021人體每一個細胞裡都擁有23對染色體, 其中有一對特殊的染色體—— 性染色體(X染色體和Y染色體), 染色體本來是成雙成對的, 在細胞分裂過程中, 成對的染色體會分離, 因此每個生殖細胞(...
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