Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study
Background: To evaluate the clinical performance and clinical implementation of noninvasive prenatal testing (NIPT) using fetal fraction (FF) enrichment. Methods: Both standard NIPT and NIPT with FF enrichment were performed concurrently to 277 clinical samples. Results: On average, the FF of each s...
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| Format: | Article |
| Language: | English |
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IMR Press
2024-05-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
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| Online Access: | https://www.imrpress.com/journal/CEOG/51/5/10.31083/j.ceog5105114 |
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| author | Yun Chen Yunli Lai Jian Yi Shang Yi Xiaoshan Huang Yanqing Tang Jiasun Su Yiping Shen Hongwei Wei |
| author_facet | Yun Chen Yunli Lai Jian Yi Shang Yi Xiaoshan Huang Yanqing Tang Jiasun Su Yiping Shen Hongwei Wei |
| author_sort | Yun Chen |
| collection | DOAJ |
| description | Background: To evaluate the clinical performance and clinical implementation of noninvasive prenatal testing (NIPT) using fetal fraction (FF) enrichment. Methods: Both standard NIPT and NIPT with FF enrichment were performed concurrently to 277 clinical samples. Results: On average, the FF of each sample processed by NIPT with FF enrichment was 1.9-fold higher than without enrichment. 88% (43/49) of samples with low FF in standard NIPT were recovered by the enrichment method. 11 more copy number variants (CNVs) which were confirmed by prenatal diagnosis were detected by NIPT with FF enrichment. NIPT with FF enrichment generated a positive predictive value of 75% for CNVs (≥3 Mb and 22q11.2 ≥1 Mb). NIPT with FF enrichment showed similar performance in the detection of common trisomy when compared with the standard method. Pregnant women with higher body mass indexes experienced significantly greater enriching effects on FF from NIPT with the enrichment protocol. Conclusions: NIPT with FF enrichment effectively elevated the FF level. This method is capable of detecting significantly more concordant CNVs with a positive predictive value (PPV) of 75%. Our data suggest that this enhanced version of NIPT can be used to improve the screening performance of clinically significant fetal CNVs but it should only be recommended when comprehensive counseling is available. |
| format | Article |
| id | doaj-art-9585fa3211ca42f6bb3935460d66c7c8 |
| institution | DOAJ |
| issn | 0390-6663 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj-art-9585fa3211ca42f6bb3935460d66c7c82025-08-20T03:19:42ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632024-05-0151511410.31083/j.ceog5105114S0390-6663(24)02333-9Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot StudyYun Chen0Yunli Lai1Jian Yi2Shang Yi3Xiaoshan Huang4Yanqing Tang5Jiasun Su6Yiping Shen7Hongwei Wei8Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaGenetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530000 Nanning, Guangxi, ChinaBackground: To evaluate the clinical performance and clinical implementation of noninvasive prenatal testing (NIPT) using fetal fraction (FF) enrichment. Methods: Both standard NIPT and NIPT with FF enrichment were performed concurrently to 277 clinical samples. Results: On average, the FF of each sample processed by NIPT with FF enrichment was 1.9-fold higher than without enrichment. 88% (43/49) of samples with low FF in standard NIPT were recovered by the enrichment method. 11 more copy number variants (CNVs) which were confirmed by prenatal diagnosis were detected by NIPT with FF enrichment. NIPT with FF enrichment generated a positive predictive value of 75% for CNVs (≥3 Mb and 22q11.2 ≥1 Mb). NIPT with FF enrichment showed similar performance in the detection of common trisomy when compared with the standard method. Pregnant women with higher body mass indexes experienced significantly greater enriching effects on FF from NIPT with the enrichment protocol. Conclusions: NIPT with FF enrichment effectively elevated the FF level. This method is capable of detecting significantly more concordant CNVs with a positive predictive value (PPV) of 75%. Our data suggest that this enhanced version of NIPT can be used to improve the screening performance of clinically significant fetal CNVs but it should only be recommended when comprehensive counseling is available.https://www.imrpress.com/journal/CEOG/51/5/10.31083/j.ceog5105114noninvasive prenatal testingfetal fraction enrichmentbody mass indexcopy number variants |
| spellingShingle | Yun Chen Yunli Lai Jian Yi Shang Yi Xiaoshan Huang Yanqing Tang Jiasun Su Yiping Shen Hongwei Wei Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study Clinical and Experimental Obstetrics & Gynecology noninvasive prenatal testing fetal fraction enrichment body mass index copy number variants |
| title | Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study |
| title_full | Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study |
| title_fullStr | Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study |
| title_full_unstemmed | Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study |
| title_short | Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study |
| title_sort | noninvasive prenatal testing using fetal fraction enrichment a pilot study |
| topic | noninvasive prenatal testing fetal fraction enrichment body mass index copy number variants |
| url | https://www.imrpress.com/journal/CEOG/51/5/10.31083/j.ceog5105114 |
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