An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal TestingReportar como inadecuado




An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Massively parallel sequencing MPS combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies SCAs by sequencing cell-free fetal DNA cffDNA from maternal plasma, so-called non-invasive prenatal testing NIPT. However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate FNR and false positive rate FPR in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration 1% in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing 1590 samples, suggesting that it is reliable and robust enough for clinical testing.



Autor: Ting Wang , Quanze He , Haibo Li, Jie Ding, Ping Wen, Qin Zhang, Jingjing Xiang, Qiong Li, Liming Xuan, Lingyin Kong, Yan Mao, Yi

Fuente: http://plos.srce.hr/



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