Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters. Pregnant women, who underwent amniocenteses for prenatal genetic diagnoses du...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.00069/full |
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| author | Yiyang Zhu Yiyang Zhu Yiyang Zhu Qunda Shan Qunda Shan Jiayong Zheng Qunxi Cai Huanli Yang Jianhong Zhang Xiaodong Du Fan Jin Fan Jin |
| author_facet | Yiyang Zhu Yiyang Zhu Yiyang Zhu Qunda Shan Qunda Shan Jiayong Zheng Qunxi Cai Huanli Yang Jianhong Zhang Xiaodong Du Fan Jin Fan Jin |
| author_sort | Yiyang Zhu |
| collection | DOAJ |
| description | In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters. Pregnant women, who underwent amniocenteses for prenatal genetic diagnoses during their middle and late trimesters, were recruited at the Prenatal Diagnosis Center of Taizhou City. Maternal blood was separated for NIPT, and amniotic fluid cells were cultured for karyotyping and CMA. The diagnostic efficiency of NIPT for detecting fetal imbalanced anomalies was compared with karyotyping and CMA. A total of 69 fetal chromosomal imbalances were confirmed by CMA, 37 were diagnosed by NIPT and 35 were found by karyotyping. The sensitivities of NIPT and karyotyping for diagnosing aneuploidy were 96.3% and 100% respectively. Only one mosaic sexual chromosome monosomy was misdiagnosed by NIPT, whereas the sensitivity of NIPT and karyotyping was 70% and 30%, respectively, for detecting pathogenic deletions and duplications sized from 5–20 Mb. Taken together, our results suggest that the efficiency of NIPT was similar to the formula karyotyping for detecting chromosome imbalance in the second and third trimesters. |
| first_indexed | 2024-12-12T21:58:12Z |
| format | Article |
| id | doaj.art-ff5b223e33c54c05a444fe90fb093761 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-12T21:58:12Z |
| publishDate | 2019-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-ff5b223e33c54c05a444fe90fb0937612022-12-22T00:10:35ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-03-011010.3389/fgene.2019.00069414697Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third TrimestersYiyang Zhu0Yiyang Zhu1Yiyang Zhu2Qunda Shan3Qunda Shan4Jiayong Zheng5Qunxi Cai6Huanli Yang7Jianhong Zhang8Xiaodong Du9Fan Jin10Fan Jin11Department of Reproductive Endocrinology, Women’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaDepartment of Prenatal Diagnosis, Enze Women’s Hospital, Taizhou Hospital of Zhejiang Province, Zhejiang University, Taizhou, ChinaTaizhou Centers of Prenatal Screening, Taizhou Women and Children’s Hospital, Wenzhou Medical University, Taizhou, ChinaDepartment of Reproductive Endocrinology, Women’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaDepartment of Prenatal Diagnosis, Lishui Maternal and Child Health Care Hospital, Lishui, ChinaDepartment of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Maternal and Child Health Care Hospital, Wenzhou City Key Laboratory of Gynecology and Obstetrics, Wenzhou, ChinaDepartment of Prenatal Diagnosis, Enze Women’s Hospital, Taizhou Hospital of Zhejiang Province, Zhejiang University, Taizhou, ChinaDepartment of Prenatal Diagnosis, Enze Women’s Hospital, Taizhou Hospital of Zhejiang Province, Zhejiang University, Taizhou, ChinaTaizhou Centers of Prenatal Screening, Taizhou Women and Children’s Hospital, Wenzhou Medical University, Taizhou, ChinaDepartment of Prenatal Diagnosis, Lishui Maternal and Child Health Care Hospital, Lishui, ChinaDepartment of Reproductive Endocrinology, Women’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou, ChinaIn this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters. Pregnant women, who underwent amniocenteses for prenatal genetic diagnoses during their middle and late trimesters, were recruited at the Prenatal Diagnosis Center of Taizhou City. Maternal blood was separated for NIPT, and amniotic fluid cells were cultured for karyotyping and CMA. The diagnostic efficiency of NIPT for detecting fetal imbalanced anomalies was compared with karyotyping and CMA. A total of 69 fetal chromosomal imbalances were confirmed by CMA, 37 were diagnosed by NIPT and 35 were found by karyotyping. The sensitivities of NIPT and karyotyping for diagnosing aneuploidy were 96.3% and 100% respectively. Only one mosaic sexual chromosome monosomy was misdiagnosed by NIPT, whereas the sensitivity of NIPT and karyotyping was 70% and 30%, respectively, for detecting pathogenic deletions and duplications sized from 5–20 Mb. Taken together, our results suggest that the efficiency of NIPT was similar to the formula karyotyping for detecting chromosome imbalance in the second and third trimesters.https://www.frontiersin.org/article/10.3389/fgene.2019.00069/fullnon-invasive prenatal testingchromosome microarraykaryotypingcopy number variantprenatal diagnosis |
| spellingShingle | Yiyang Zhu Yiyang Zhu Yiyang Zhu Qunda Shan Qunda Shan Jiayong Zheng Qunxi Cai Huanli Yang Jianhong Zhang Xiaodong Du Fan Jin Fan Jin Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters Frontiers in Genetics non-invasive prenatal testing chromosome microarray karyotyping copy number variant prenatal diagnosis |
| title | Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters |
| title_full | Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters |
| title_fullStr | Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters |
| title_full_unstemmed | Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters |
| title_short | Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters |
| title_sort | comparison of efficiencies of non invasive prenatal testing karyotyping and chromosomal micro array for diagnosing fetal chromosomal anomalies in the second and third trimesters |
| topic | non-invasive prenatal testing chromosome microarray karyotyping copy number variant prenatal diagnosis |
| url | https://www.frontiersin.org/article/10.3389/fgene.2019.00069/full |
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