Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combine...
Ausführliche Beschreibung
Gespeichert in:
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Jiang, Fuman [verfasserIn] |
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E-Artikel |
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| Sprache: |
Englisch |
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2012 |
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© Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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| Übergeordnetes Werk: |
Enthalten in: BMC medical genomics - London : BioMed Central, 2008, 5(2012), 1 vom: 01. Dez. |
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| Übergeordnetes Werk: |
volume:5 ; year:2012 ; number:1 ; day:01 ; month:12 |
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| DOI / URN: |
10.1186/1755-8794-5-57 |
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| Katalog-ID: |
SPR028468015 |
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| 520 | |a Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. | ||
| 650 | 4 | |a Noninvasive Fetal Trisomy (NIFTY) test |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Massively parallel sequencing |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Autosomal aneuploidies |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Sex chromosomal aneuploidies |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Ren, Jinghui |4 aut | |
| 700 | 1 | |a Chen, Fang |4 aut | |
| 700 | 1 | |a Zhou, Yuqiu |4 aut | |
| 700 | 1 | |a Xie, Jiansheng |4 aut | |
| 700 | 1 | |a Dan, Shan |4 aut | |
| 700 | 1 | |a Su, Yue |4 aut | |
| 700 | 1 | |a Xie, Jianhong |4 aut | |
| 700 | 1 | |a Yin, Baomin |4 aut | |
| 700 | 1 | |a Su, Wen |4 aut | |
| 700 | 1 | |a Zhang, Huakun |4 aut | |
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| 700 | 1 | |a Chai, Xianghua |4 aut | |
| 700 | 1 | |a Lin, Linhua |4 aut | |
| 700 | 1 | |a Guo, Hui |4 aut | |
| 700 | 1 | |a Li, Qiyun |4 aut | |
| 700 | 1 | |a Li, Peipei |4 aut | |
| 700 | 1 | |a Yuan, Yuying |4 aut | |
| 700 | 1 | |a Pan, Xiaoyu |4 aut | |
| 700 | 1 | |a Li, Yihan |4 aut | |
| 700 | 1 | |a Liu, Lifu |4 aut | |
| 700 | 1 | |a Chen, Huifei |4 aut | |
| 700 | 1 | |a Xuan, Zhaoling |4 aut | |
| 700 | 1 | |a Chen, Shengpei |4 aut | |
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| 700 | 1 | |a Tian, Zhongming |4 aut | |
| 700 | 1 | |a Zhang, Zhengyu |4 aut | |
| 700 | 1 | |a Jiang, Hui |4 aut | |
| 700 | 1 | |a Zhao, Lijian |4 aut | |
| 700 | 1 | |a Zheng, Weimou |4 aut | |
| 700 | 1 | |a Li, Songgang |4 aut | |
| 700 | 1 | |a Li, Yingrui |4 aut | |
| 700 | 1 | |a Wang, Jun |4 aut | |
| 700 | 1 | |a Wang, Jian |4 aut | |
| 700 | 1 | |a Zhang, Xiuqing |4 aut | |
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10.1186/1755-8794-5-57 doi (DE-627)SPR028468015 (SPR)1755-8794-5-57-e DE-627 ger DE-627 rakwb eng Jiang, Fuman verfasserin aut Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. Noninvasive Fetal Trisomy (NIFTY) test (dpeaa)DE-He213 Massively parallel sequencing (dpeaa)DE-He213 Autosomal aneuploidies (dpeaa)DE-He213 Sex chromosomal aneuploidies (dpeaa)DE-He213 Ren, Jinghui aut Chen, Fang aut Zhou, Yuqiu aut Xie, Jiansheng aut Dan, Shan aut Su, Yue aut Xie, Jianhong aut Yin, Baomin aut Su, Wen aut Zhang, Huakun aut Wang, Wei aut Chai, Xianghua aut Lin, Linhua aut Guo, Hui aut Li, Qiyun aut Li, Peipei aut Yuan, Yuying aut Pan, Xiaoyu aut Li, Yihan aut Liu, Lifu aut Chen, Huifei aut Xuan, Zhaoling aut Chen, Shengpei aut Zhang, Chunlei aut Zhang, Hongyun aut Tian, Zhongming aut Zhang, Zhengyu aut Jiang, Hui aut Zhao, Lijian aut Zheng, Weimou aut Li, Songgang aut Li, Yingrui aut Wang, Jun aut Wang, Jian aut Zhang, Xiuqing aut Enthalten in BMC medical genomics London : BioMed Central, 2008 5(2012), 1 vom: 01. Dez. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:5 year:2012 number:1 day:01 month:12 https://dx.doi.org/10.1186/1755-8794-5-57 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 01 12 |
| spelling |
10.1186/1755-8794-5-57 doi (DE-627)SPR028468015 (SPR)1755-8794-5-57-e DE-627 ger DE-627 rakwb eng Jiang, Fuman verfasserin aut Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. Noninvasive Fetal Trisomy (NIFTY) test (dpeaa)DE-He213 Massively parallel sequencing (dpeaa)DE-He213 Autosomal aneuploidies (dpeaa)DE-He213 Sex chromosomal aneuploidies (dpeaa)DE-He213 Ren, Jinghui aut Chen, Fang aut Zhou, Yuqiu aut Xie, Jiansheng aut Dan, Shan aut Su, Yue aut Xie, Jianhong aut Yin, Baomin aut Su, Wen aut Zhang, Huakun aut Wang, Wei aut Chai, Xianghua aut Lin, Linhua aut Guo, Hui aut Li, Qiyun aut Li, Peipei aut Yuan, Yuying aut Pan, Xiaoyu aut Li, Yihan aut Liu, Lifu aut Chen, Huifei aut Xuan, Zhaoling aut Chen, Shengpei aut Zhang, Chunlei aut Zhang, Hongyun aut Tian, Zhongming aut Zhang, Zhengyu aut Jiang, Hui aut Zhao, Lijian aut Zheng, Weimou aut Li, Songgang aut Li, Yingrui aut Wang, Jun aut Wang, Jian aut Zhang, Xiuqing aut Enthalten in BMC medical genomics London : BioMed Central, 2008 5(2012), 1 vom: 01. Dez. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:5 year:2012 number:1 day:01 month:12 https://dx.doi.org/10.1186/1755-8794-5-57 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 01 12 |
| allfields_unstemmed |
10.1186/1755-8794-5-57 doi (DE-627)SPR028468015 (SPR)1755-8794-5-57-e DE-627 ger DE-627 rakwb eng Jiang, Fuman verfasserin aut Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. Noninvasive Fetal Trisomy (NIFTY) test (dpeaa)DE-He213 Massively parallel sequencing (dpeaa)DE-He213 Autosomal aneuploidies (dpeaa)DE-He213 Sex chromosomal aneuploidies (dpeaa)DE-He213 Ren, Jinghui aut Chen, Fang aut Zhou, Yuqiu aut Xie, Jiansheng aut Dan, Shan aut Su, Yue aut Xie, Jianhong aut Yin, Baomin aut Su, Wen aut Zhang, Huakun aut Wang, Wei aut Chai, Xianghua aut Lin, Linhua aut Guo, Hui aut Li, Qiyun aut Li, Peipei aut Yuan, Yuying aut Pan, Xiaoyu aut Li, Yihan aut Liu, Lifu aut Chen, Huifei aut Xuan, Zhaoling aut Chen, Shengpei aut Zhang, Chunlei aut Zhang, Hongyun aut Tian, Zhongming aut Zhang, Zhengyu aut Jiang, Hui aut Zhao, Lijian aut Zheng, Weimou aut Li, Songgang aut Li, Yingrui aut Wang, Jun aut Wang, Jian aut Zhang, Xiuqing aut Enthalten in BMC medical genomics London : BioMed Central, 2008 5(2012), 1 vom: 01. Dez. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:5 year:2012 number:1 day:01 month:12 https://dx.doi.org/10.1186/1755-8794-5-57 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 01 12 |
| allfieldsGer |
10.1186/1755-8794-5-57 doi (DE-627)SPR028468015 (SPR)1755-8794-5-57-e DE-627 ger DE-627 rakwb eng Jiang, Fuman verfasserin aut Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. Noninvasive Fetal Trisomy (NIFTY) test (dpeaa)DE-He213 Massively parallel sequencing (dpeaa)DE-He213 Autosomal aneuploidies (dpeaa)DE-He213 Sex chromosomal aneuploidies (dpeaa)DE-He213 Ren, Jinghui aut Chen, Fang aut Zhou, Yuqiu aut Xie, Jiansheng aut Dan, Shan aut Su, Yue aut Xie, Jianhong aut Yin, Baomin aut Su, Wen aut Zhang, Huakun aut Wang, Wei aut Chai, Xianghua aut Lin, Linhua aut Guo, Hui aut Li, Qiyun aut Li, Peipei aut Yuan, Yuying aut Pan, Xiaoyu aut Li, Yihan aut Liu, Lifu aut Chen, Huifei aut Xuan, Zhaoling aut Chen, Shengpei aut Zhang, Chunlei aut Zhang, Hongyun aut Tian, Zhongming aut Zhang, Zhengyu aut Jiang, Hui aut Zhao, Lijian aut Zheng, Weimou aut Li, Songgang aut Li, Yingrui aut Wang, Jun aut Wang, Jian aut Zhang, Xiuqing aut Enthalten in BMC medical genomics London : BioMed Central, 2008 5(2012), 1 vom: 01. Dez. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:5 year:2012 number:1 day:01 month:12 https://dx.doi.org/10.1186/1755-8794-5-57 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 01 12 |
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10.1186/1755-8794-5-57 doi (DE-627)SPR028468015 (SPR)1755-8794-5-57-e DE-627 ger DE-627 rakwb eng Jiang, Fuman verfasserin aut Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. Noninvasive Fetal Trisomy (NIFTY) test (dpeaa)DE-He213 Massively parallel sequencing (dpeaa)DE-He213 Autosomal aneuploidies (dpeaa)DE-He213 Sex chromosomal aneuploidies (dpeaa)DE-He213 Ren, Jinghui aut Chen, Fang aut Zhou, Yuqiu aut Xie, Jiansheng aut Dan, Shan aut Su, Yue aut Xie, Jianhong aut Yin, Baomin aut Su, Wen aut Zhang, Huakun aut Wang, Wei aut Chai, Xianghua aut Lin, Linhua aut Guo, Hui aut Li, Qiyun aut Li, Peipei aut Yuan, Yuying aut Pan, Xiaoyu aut Li, Yihan aut Liu, Lifu aut Chen, Huifei aut Xuan, Zhaoling aut Chen, Shengpei aut Zhang, Chunlei aut Zhang, Hongyun aut Tian, Zhongming aut Zhang, Zhengyu aut Jiang, Hui aut Zhao, Lijian aut Zheng, Weimou aut Li, Songgang aut Li, Yingrui aut Wang, Jun aut Wang, Jian aut Zhang, Xiuqing aut Enthalten in BMC medical genomics London : BioMed Central, 2008 5(2012), 1 vom: 01. Dez. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:5 year:2012 number:1 day:01 month:12 https://dx.doi.org/10.1186/1755-8794-5-57 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 01 12 |
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Enthalten in BMC medical genomics 5(2012), 1 vom: 01. Dez. volume:5 year:2012 number:1 day:01 month:12 |
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Jiang, Fuman @@aut@@ Ren, Jinghui @@aut@@ Chen, Fang @@aut@@ Zhou, Yuqiu @@aut@@ Xie, Jiansheng @@aut@@ Dan, Shan @@aut@@ Su, Yue @@aut@@ Xie, Jianhong @@aut@@ Yin, Baomin @@aut@@ Su, Wen @@aut@@ Zhang, Huakun @@aut@@ Wang, Wei @@aut@@ Chai, Xianghua @@aut@@ Lin, Linhua @@aut@@ Guo, Hui @@aut@@ Li, Qiyun @@aut@@ Li, Peipei @@aut@@ Yuan, Yuying @@aut@@ Pan, Xiaoyu @@aut@@ Li, Yihan @@aut@@ Liu, Lifu @@aut@@ Chen, Huifei @@aut@@ Xuan, Zhaoling @@aut@@ Chen, Shengpei @@aut@@ Zhang, Chunlei @@aut@@ Zhang, Hongyun @@aut@@ Tian, Zhongming @@aut@@ Zhang, Zhengyu @@aut@@ Jiang, Hui @@aut@@ Zhao, Lijian @@aut@@ Zheng, Weimou @@aut@@ Li, Songgang @@aut@@ Li, Yingrui @@aut@@ Wang, Jun @@aut@@ Wang, Jian @@aut@@ Zhang, Xiuqing @@aut@@ |
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Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies Noninvasive Fetal Trisomy (NIFTY) test (dpeaa)DE-He213 Massively parallel sequencing (dpeaa)DE-He213 Autosomal aneuploidies (dpeaa)DE-He213 Sex chromosomal aneuploidies (dpeaa)DE-He213 |
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Jiang, Fuman Ren, Jinghui Chen, Fang Zhou, Yuqiu Xie, Jiansheng Dan, Shan Su, Yue Xie, Jianhong Yin, Baomin Su, Wen Zhang, Huakun Wang, Wei Chai, Xianghua Lin, Linhua Guo, Hui Li, Qiyun Li, Peipei Yuan, Yuying Pan, Xiaoyu Li, Yihan Liu, Lifu Chen, Huifei Xuan, Zhaoling Chen, Shengpei Zhang, Chunlei Zhang, Hongyun Tian, Zhongming Zhang, Zhengyu Jiang, Hui Zhao, Lijian Zheng, Weimou Li, Songgang Li, Yingrui Wang, Jun Wang, Jian Zhang, Xiuqing |
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noninvasive fetal trisomy (nifty) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies |
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Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies |
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Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
| abstractGer |
Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
| abstract_unstemmed |
Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis. © Jiang et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Ren, Jinghui Chen, Fang Zhou, Yuqiu Xie, Jiansheng Dan, Shan Su, Yue Xie, Jianhong Yin, Baomin Su, Wen Zhang, Huakun Wang, Wei Chai, Xianghua Lin, Linhua Guo, Hui Li, Qiyun Li, Peipei Yuan, Yuying Pan, Xiaoyu Li, Yihan Liu, Lifu Chen, Huifei Xuan, Zhaoling Chen, Shengpei Zhang, Chunlei Zhang, Hongyun Tian, Zhongming Zhang, Zhengyu Jiang, Hui Zhao, Lijian Zheng, Weimou Li, Songgang Li, Yingrui Wang, Jun Wang, Jian Zhang, Xiuqing |
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| score |
7.3994217 |