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Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Proc Natl Acad Sci U S A 2014; 111(20):7415-20PN

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.

Authors+Show Affiliations

Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China; kang.zhang@gmail.com canliao@hotmail.com hlliu@igenomics.com.cn Zhangxiaozhuang55@126.com.Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;Guangdong Thalassemia Diagnostic Centre, Guangzhou 510010, China;iGenomics Co., Ltd., Guangzhou 510005, China;Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China;Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China;iGenomics Co., Ltd., Guangzhou 510005, China;iGenomics Co., Ltd., Guangzhou 510005, China;Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China;Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China;Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China;Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;Guangzhou Kang Rui Biological Pharmaceutical Technology Co., Ltd., Guangzhou Development District, Guangzhou 510005, China;Institute for Genomic Medicine and Department of Ophthalmology, University of California, San Diego, La Jolla, CA 92328;Institute for Genomic Medicine and Department of Ophthalmology, University of California, San Diego, La Jolla, CA 92328;Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital and Sichuan University, Chengdu 610041, China; and.Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China;iGenomics Co., Ltd., Guangzhou 510005, China; kang.zhang@gmail.com canliao@hotmail.com hlliu@igenomics.com.cn Zhangxiaozhuang55@126.com.Prenatal Diagnosis Centre andMaternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;Guangdong Thalassemia Diagnostic Centre, Guangzhou 510010, China; kang.zhang@gmail.com canliao@hotmail.com hlliu@igenomics.com.cn Zhangxiaozhuang55@126.com.Institute for Genomic Medicine and Department of Ophthalmology, University of California, San Diego, La Jolla, CA 92328;Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital and Sichuan University, Chengdu 610041, China; andVeterans Administration Healthcare System, San Diego, CA 92161 kang.zhang@gmail.com canliao@hotmail.com hlliu@igenomics.com.cn Zhangxiaozhuang55@126.com.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24799683

Citation

Liao, Can, et al. "Noninvasive Prenatal Diagnosis of Common Aneuploidies By Semiconductor Sequencing." Proceedings of the National Academy of Sciences of the United States of America, vol. 111, no. 20, 2014, pp. 7415-20.
Liao C, Yin AH, Peng CF, et al. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci USA. 2014;111(20):7415-20.
Liao, C., Yin, A. H., Peng, C. F., Fu, F., Yang, J. X., Li, R., ... Zhang, K. (2014). Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proceedings of the National Academy of Sciences of the United States of America, 111(20), pp. 7415-20. doi:10.1073/pnas.1321997111.
Liao C, et al. Noninvasive Prenatal Diagnosis of Common Aneuploidies By Semiconductor Sequencing. Proc Natl Acad Sci USA. 2014 May 20;111(20):7415-20. PubMed PMID: 24799683.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. AU - Liao,Can, AU - Yin,Ai-hua, AU - Peng,Chun-fang, AU - Fu,Fang, AU - Yang,Jie-xia, AU - Li,Ru, AU - Chen,Yang-yi, AU - Luo,Dong-hong, AU - Zhang,Yong-ling, AU - Ou,Yan-mei, AU - Li,Jian, AU - Wu,Jing, AU - Mai,Ming-qin, AU - Hou,Rui, AU - Wu,Frances, AU - Luo,Hongrong, AU - Li,Dong-zhi, AU - Liu,Hai-liang, AU - Zhang,Xiao-zhuang, AU - Zhang,Kang, Y1 - 2014/05/05/ PY - 2014/5/7/entrez PY - 2014/5/7/pubmed PY - 2014/7/16/medline SP - 7415 EP - 20 JF - Proceedings of the National Academy of Sciences of the United States of America JO - Proc. Natl. Acad. Sci. U.S.A. VL - 111 IS - 20 N2 - 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. SN - 1091-6490 UR - https://www.unboundmedicine.com/medline/citation/24799683/Noninvasive_prenatal_diagnosis_of_common_aneuploidies_by_semiconductor_sequencing_ L2 - http://www.pnas.org/cgi/pmidlookup?view=long&pmid=24799683 DB - PRIME DP - Unbound Medicine ER -