Cell-free DNA (cfDNA) screening has high detection for the common fetal autosomal aneuploidies, but is not diagnostic. The positive predictive value should be utilized in counseling after a positive cell-free DNA screen, and diagnostic testing should be offered for confirmation. cfDNA screening does...
Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single expe... 同意NIPT可检测SCA SCA的发病频率 SCA的PPV 目的 近年来,使用无细胞胎儿DNA(cffDNA)进行的非侵入性产前测试(NIPT)已被广泛接受,以检测常见的胎儿常染色体非整倍体和性染色体非整倍体(SCA)。本文分析9985例孕...
Women who had single-nucleotide-polymorphism-based cell-free DNA screening for trisomies 21, 18, and 13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. The test performance and test failure (no-call) rates were assessed for the cohort, and women with low...
黄荷凤院士团队联合博昊基因等单位在Cell Discovery期刊(IF38.079)发表文章“Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next- generation non-invasive prenatal screening”。研究团队提出了一种创新...
9 Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022. 韩国孕妇的无细胞胎儿 DNA 筛查分析 : 6 年的经验和 2017 年至 2022 年对 9327 例患者的回顾性研究。 影响指数 : 3.508 发表时间:Oct...
Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies. However, numerous severe conditions with underlying single-gene defects are not included in current prenatal cfDNA screening. In this...
of prenatal cell-free dna (cfdna) screening for chromosomal aneuploidies in pregnancies achieved either after single euploid transfer in invitro fertilization or preimplantation genetic testing for aneuploidy (pgt-a) cycles or transfer of single untested embryo, and to assess the concordance of prenatal...
This randomized trial compares the effects of maternal Down syndrome screening using plasma cell-free DNA (cfDNA) measures vs invasive screening on
Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screeni
摘要: Cell-free DNA screening for trisomy is rolled out in Israel. By - Anna Petherick 关键词: Cell-Free System Humans Down Syndrome Genetic Predisposition to Disease DNA Prenatal Diagnosis Amniocentesis Chorionic Villi Sampling Predictive Value of Tests Sequence Analysis, DNA DOI: 10.1016/S0140-...