Peter Benn, Jingwen Zhang, Daniel Lyons, Wenbo Xu, Samantha Leonard, Zachary Demko
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引用次数: 0
摘要
背景:胎儿非整倍体的无创产前检测(NIPT)依赖于分析母体血浆中的胎盘无细胞 DNA(cfDNA)。可靠的检测结果需要最低的 cfDNA 胎儿组分(FF),但有些方法的 FF 测量精度可能不够理想。本研究调查了基于单核苷酸多态性(SNP)的 NIPT 方法评估 FF 的准确性:方法:使用基于 SNP 的 NIPT 对单胎男性妊娠的连续样本进行 FF 测量,并与使用 "金标准 "Y 染色体方法测量的 FF 进行比较:在一组 106,846 个样本中,基于 SNP 的 FF 方法的标准偏差 (SD) 为 0.42%。与 Y 染色体 FF 方法相比,相关系数 r 为 0.995,偏差为 0.17%。SD在特定的FF范围或高风险NIPT结果样本中没有实质性差异:结论:基于 SNP 的 NIPT 方法能准确估算 FF,其 SD 值是其他 NIPT 方法的 3 到 8 倍(0.42% 对 1.3%-3.4%)。FF是一个重要的质量控制参数,应作为NIPT的一部分进行常规报告。
Accuracy of fetal fraction measurements in a single-nucleotide polymorphism-based noninvasive prenatal test.
Background: Noninvasive prenatal testing (NIPT) for fetal aneuploidy relies on the analysis of fetoplacental cell-free DNA (cfDNA) found in maternal plasma. A minimum cfDNA fetal fraction (FF) is required for reliable test performance, but some methods may have suboptimal accuracy for FF measurement. This study investigated the accuracy of a single-nucleotide polymorphism- (SNP-) based NIPT method to assess FF.
Methods: FF measurements using SNP-based NIPT in consecutive samples from singleton male pregnancies were compared with FF measured using a "gold standard" Y-chromosome method.
Results: In a cohort of 106,846 samples, the SNP-based FF method showed a standard deviation (SD) of 0.42%. Compared to the Y chromosome FF method, a correlation coefficient, r, of 0.995, and bias of 0.17% were observed. The SD was not substantially different across specific FF ranges or for samples with high-risk NIPT results.
Conclusions: The SNP-based NIPT method estimates FF with good accuracy, with a SD three to eight times better than other NIPT methods (0.42% vs. 1.3%-3.4%). FF is an important quality control parameter and should be routinely reported as part of NIPT.
期刊介绍:
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling