| Author |
Yang, Jie-xia Luo, Dong-hong Zhang, Kang Yin, Ai-hua Chen, Yang-yi Hou, Rui Wu, Jing Peng, Chun-fang Ou, Yan-mei Li, Dong-zhi Zhang, Xiao-zhuang Fu, Fang Mai, Ming-qin Zhang, Yong-ling Li, Ru Luo, Hongrong Liu, Hai-liang Li, Jian Liao, Can Wu, Frances |
| Description |
Author Affiliation: Liao C ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Yin AH ( Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China); Peng CF ( iGenomics Co., Ltd., Guangzhou 510005, China); Fu F ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Yang JX ( Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China); Li R ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Chen YY ( iGenomics Co., Ltd., Guangzhou 510005, China); Luo DH ( iGenomics Co., Ltd., Guangzhou 510005, China); Zhang YL ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Ou YM ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Li J ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Wu J ( Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China); Mai MQ ( Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China); Hou R ( Guangzhou Kang Rui Biological Pharmaceutical Technology Co., Ltd., Guangzhou Development District, Guangzhou 510005, China); Wu F ( Institute for Genomic Medicine and Department of Ophthalmology, University of California, San Diego, La Jolla, CA 92328); Luo H ( Institute for Genomic Medicine and Department of Ophthalmology, University of California, San Diego, La Jolla, CA 92328); Li DZ ( Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China); Liu HL ( iGenomics Co., Ltd., Guangzhou 510005, China); Zhang XZ ( Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China); Zhang K ( Institute for Genomic Medicine and Department of Ophthalmology, University of California, San Diego, La Jolla, CA 92328); |
| Abstract |
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques. A total of 2,275 pregnant subjects was included in the study; of these, 515 subjects who had full karyotyping results were used in a retrospective analysis, and 1,760 subjects without karyotyping were analyzed in a prospective study. In the retrospective study, all 55 fetal trisomy 21 cases were identified using the SSP with a sensitivity and specificity of 99.94% and 99.46%, respectively. The SSP also detected 16 trisomy 18 cases with 100% sensitivity and 99.24% specificity and 3 trisomy 13 cases with 100% sensitivity and 100% specificity. Furthermore, 15 fetuses with sex chromosome aneuploidies (10 45,X, 2 47,XYY, 2 47,XXX, and 1 47,XXY) were detected. In the prospective study, nine fetuses with trisomy 21, three with trisomy 18, three with trisomy 13, and one with 45,X were detected. To our knowledge, this is the first large-scale clinical study to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using the SSP and provides an effective strategy for large-scale noninvasive screening for chromosomal aneuploidies in a clinical setting. |
