Application of chromosome microarray analysis in prenatal diagnosis
Abstract Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound...
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| Format: | Article |
| Language: | English |
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BMC
2020-11-01
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| Series: | BMC Pregnancy and Childbirth |
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| Online Access: | http://link.springer.com/article/10.1186/s12884-020-03368-y |
| _version_ | 1819158970688864256 |
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| author | Mingjing Xia Xinhong Yang Jing Fu Zhenjuan Teng Yan Lv Lixia Yu |
| author_facet | Mingjing Xia Xinhong Yang Jing Fu Zhenjuan Teng Yan Lv Lixia Yu |
| author_sort | Mingjing Xia |
| collection | DOAJ |
| description | Abstract Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately. Within the ultrasound abnormality group, the results of the ultrasound structural malformation group, the ultrasound soft index abnormality group, and other ultrasound abnormality (including abnormal amniotic fluid volume and fetal growth restriction) groups were compared. Results Abnormal chromosome and CMA results were found in a total of 71 cases (15.88%, 71/447), which can be broken down into a total of 23 karyotype abnormalities (5.15%, 23/447), consisting of 18 cases of aneuploidy (4.03%, 18/447), 2 cases of unbalanced chromosome rearrangements (0.44%, 2/447), and 3 cases of chimerism (0.67%, 3/447); 17 cases with detection of pathogenic copy number variations (pCNVs) (3.80%, 17/447); and 31 cases of detection of clinical variants of unknown significance (VOUS) (6.93%, 31/447). CMA detected 3.8% more genetic abnormalities than karyotype analysis (in addition to the abnormalities detected simultaneously by karyotype analysis). Between the no ultrasound abnormality group and the ultrasound abnormality group, there was an extremely significant difference in the detection rate of an abnormal chromosomal karyotype (P < 0.01) and of VOUS (P < 0.01), but there was no significant difference in the detection rate of pCNV (P > 0.05). Comparing the ultrasound structural malformation group, the ultrasound soft index abnormality group, and the other ultrasound abnormality group, there were no significant differences in the detection rate of abnormal chromosomal karyotypes (P > 0.05), pCNV (P > 0.05) or VOUS (P > 0.05). Conclusions The detection rate of chromosomal karyotype abnormalities in prenatal diagnosis in cases with no ultrasound abnormalities was higher. For cases with fetal ultrasound structural abnormalities, when compared with traditional karyotype analysis, CMA can improve the detection rate of fetal genetic abnormalities. However, the no ultrasound abnormality group also had a high VOUS abnormality detection rate, so it is necessary to strictly define the CMA indications. |
| first_indexed | 2024-12-22T16:33:07Z |
| format | Article |
| id | doaj.art-41e66a476e434de68644a23afc40c6e9 |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-12-22T16:33:07Z |
| publishDate | 2020-11-01 |
| publisher | BMC |
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| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-41e66a476e434de68644a23afc40c6e92022-12-21T18:20:01ZengBMCBMC Pregnancy and Childbirth1471-23932020-11-0120111110.1186/s12884-020-03368-yApplication of chromosome microarray analysis in prenatal diagnosisMingjing Xia0Xinhong Yang1Jing Fu2Zhenjuan Teng3Yan Lv4Lixia Yu5Department of Obstetrics, Weihai Maternal and Child Health Hospital, the Affiliated Weihai Second Municipal Hospital of Qingdao UniversityDepartment of Obstetrics, Weihai Maternal and Child Health Hospital, the Affiliated Weihai Second Municipal Hospital of Qingdao UniversityDepartment of Obstetrics, Weihai Maternal and Child Health Hospital, the Affiliated Weihai Second Municipal Hospital of Qingdao UniversityDepartment of Obstetrics, Weihai Maternal and Child Health Hospital, the Affiliated Weihai Second Municipal Hospital of Qingdao UniversityDepartment of Obstetrics, Weihai Maternal and Child Health Hospital, the Affiliated Weihai Second Municipal Hospital of Qingdao UniversityDepartment of Obstetrics, Weihai Maternal and Child Health Hospital, the Affiliated Weihai Second Municipal Hospital of Qingdao UniversityAbstract Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately. Within the ultrasound abnormality group, the results of the ultrasound structural malformation group, the ultrasound soft index abnormality group, and other ultrasound abnormality (including abnormal amniotic fluid volume and fetal growth restriction) groups were compared. Results Abnormal chromosome and CMA results were found in a total of 71 cases (15.88%, 71/447), which can be broken down into a total of 23 karyotype abnormalities (5.15%, 23/447), consisting of 18 cases of aneuploidy (4.03%, 18/447), 2 cases of unbalanced chromosome rearrangements (0.44%, 2/447), and 3 cases of chimerism (0.67%, 3/447); 17 cases with detection of pathogenic copy number variations (pCNVs) (3.80%, 17/447); and 31 cases of detection of clinical variants of unknown significance (VOUS) (6.93%, 31/447). CMA detected 3.8% more genetic abnormalities than karyotype analysis (in addition to the abnormalities detected simultaneously by karyotype analysis). Between the no ultrasound abnormality group and the ultrasound abnormality group, there was an extremely significant difference in the detection rate of an abnormal chromosomal karyotype (P < 0.01) and of VOUS (P < 0.01), but there was no significant difference in the detection rate of pCNV (P > 0.05). Comparing the ultrasound structural malformation group, the ultrasound soft index abnormality group, and the other ultrasound abnormality group, there were no significant differences in the detection rate of abnormal chromosomal karyotypes (P > 0.05), pCNV (P > 0.05) or VOUS (P > 0.05). Conclusions The detection rate of chromosomal karyotype abnormalities in prenatal diagnosis in cases with no ultrasound abnormalities was higher. For cases with fetal ultrasound structural abnormalities, when compared with traditional karyotype analysis, CMA can improve the detection rate of fetal genetic abnormalities. However, the no ultrasound abnormality group also had a high VOUS abnormality detection rate, so it is necessary to strictly define the CMA indications.http://link.springer.com/article/10.1186/s12884-020-03368-yChromosome microarray analysisKaryotype analysisPrenatal diagnosisUltrasound abnormalities |
| spellingShingle | Mingjing Xia Xinhong Yang Jing Fu Zhenjuan Teng Yan Lv Lixia Yu Application of chromosome microarray analysis in prenatal diagnosis BMC Pregnancy and Childbirth Chromosome microarray analysis Karyotype analysis Prenatal diagnosis Ultrasound abnormalities |
| title | Application of chromosome microarray analysis in prenatal diagnosis |
| title_full | Application of chromosome microarray analysis in prenatal diagnosis |
| title_fullStr | Application of chromosome microarray analysis in prenatal diagnosis |
| title_full_unstemmed | Application of chromosome microarray analysis in prenatal diagnosis |
| title_short | Application of chromosome microarray analysis in prenatal diagnosis |
| title_sort | application of chromosome microarray analysis in prenatal diagnosis |
| topic | Chromosome microarray analysis Karyotype analysis Prenatal diagnosis Ultrasound abnormalities |
| url | http://link.springer.com/article/10.1186/s12884-020-03368-y |
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