The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly
Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. Materials and methods: This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone...
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| Format: | Article |
| Language: | English |
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Elsevier
2019-03-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455919300154 |
| _version_ | 1828259411349471232 |
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| author | Hong-Lei Duan Xiang-Yu Zhu Yu-Jie Zhu Xing Wu Guang-Feng Zhao Wan-Jun Wang Jie Li |
| author_facet | Hong-Lei Duan Xiang-Yu Zhu Yu-Jie Zhu Xing Wu Guang-Feng Zhao Wan-Jun Wang Jie Li |
| author_sort | Hong-Lei Duan |
| collection | DOAJ |
| description | Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. Materials and methods: This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping. Real time quantitative PCR (qPCR) or multiplex ligation dependent probe amplification (MLPA) was used to confirm all fetal CNVs <400 Kb. Results: Except for three cases of chromosomal aneuploidy, CMA revealed pathogenic copy number variations (CNVs) in 3.0% (3/101) of the fetuses; these cases demonstrated involvement in the chromosomal regions 15q11.2, 1q21.1 and Xq27.3q28. Furthermore, we detected three likely pathogenic (3.0%) and two variants of uncertain significance (2.0%) among 101 fetuses diagnosed as isolated mild ventriculomegaly on ultrasound examination. Conclusion: Our study suggests that CNVs could aid in the risk assessment and genetic counseling in fetuses with isolated ventriculomegaly. Keywords: Chromosomal microarray analysis (CMA), Prenatal diagnosis, Ventriculomegaly, Copy number variations (CNVs) |
| first_indexed | 2024-04-13T03:07:14Z |
| format | Article |
| id | doaj.art-2e5b2ca279574ff7bf0ac9ef27ec6d6c |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-13T03:07:14Z |
| publishDate | 2019-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-2e5b2ca279574ff7bf0ac9ef27ec6d6c2022-12-22T03:05:11ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592019-03-01582251254The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegalyHong-Lei Duan0Xiang-Yu Zhu1Yu-Jie Zhu2Xing Wu3Guang-Feng Zhao4Wan-Jun Wang5Jie Li6Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaDepartment of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaDepartment of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaDepartment of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaDepartment of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaDepartment of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaCorresponding author.; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, ChinaObjective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. Materials and methods: This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping. Real time quantitative PCR (qPCR) or multiplex ligation dependent probe amplification (MLPA) was used to confirm all fetal CNVs <400 Kb. Results: Except for three cases of chromosomal aneuploidy, CMA revealed pathogenic copy number variations (CNVs) in 3.0% (3/101) of the fetuses; these cases demonstrated involvement in the chromosomal regions 15q11.2, 1q21.1 and Xq27.3q28. Furthermore, we detected three likely pathogenic (3.0%) and two variants of uncertain significance (2.0%) among 101 fetuses diagnosed as isolated mild ventriculomegaly on ultrasound examination. Conclusion: Our study suggests that CNVs could aid in the risk assessment and genetic counseling in fetuses with isolated ventriculomegaly. Keywords: Chromosomal microarray analysis (CMA), Prenatal diagnosis, Ventriculomegaly, Copy number variations (CNVs)http://www.sciencedirect.com/science/article/pii/S1028455919300154 |
| spellingShingle | Hong-Lei Duan Xiang-Yu Zhu Yu-Jie Zhu Xing Wu Guang-Feng Zhao Wan-Jun Wang Jie Li The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly Taiwanese Journal of Obstetrics & Gynecology |
| title | The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly |
| title_full | The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly |
| title_fullStr | The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly |
| title_full_unstemmed | The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly |
| title_short | The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly |
| title_sort | application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly |
| url | http://www.sciencedirect.com/science/article/pii/S1028455919300154 |
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