Objective To explore the positive predictive value (PPV) in noninvasive prenatal testing
(NIPT)-positive cases and analyze the effect of the Z-score intervals on PPV performance …

Objective To validate and evaluate the performance metrics of the high‐throughput
semiconductor sequencing platform, Ion Proton®, in non‐invasive prenatal genetic …

Copy number variation (CNV), which is deletion and multiplication of segments of a genome,
is an important genomic alteration that has been associated with many diseases including …

Aim To investigate the detectability of noninvasive prenatal screening (NIPS) with
conventional sequencing depth to detect fetal copy number variants. Methods We performed …

< 正> 21-三体综合征又名唐氏综合征, 是由多了一条21 号染色体引起的染色体异常疾病,
其发病率约为1/800~ 1/600 [1], 该病患儿在临床上常表现为先天性智力低下合并严重的多发 …

Motivation With the discovery of cell-free fetal DNA in maternal blood, the demand for non-
invasive prenatal testing (NIPT) has been increasing. To obtain reliable NIPT results, it is …

Objective To evaluate the clinical validity of a new ultrahigh‐throughput non‐invasive
prenatal test (NIPT) based on combinatorial probe–anchor ligation (cPAL) sequencing of …

Background Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-
free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities …

In Singapore, Down syndrome screening is routinely offered to all pregnant women
regardless of age.(1) The most common test offered is the combined first trimester screen …

目的: 探讨胎儿颈项透明层联合产前无创DNA 检测在胎儿染色体疾病产前筛查中的临床应用
价值. 方法: 2010 年10 月至2014 年6 月我院妇产科门诊就诊的孕11~ 14 周孕妇713 例 …