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| Correlation analysis of fetal chromosome copy number variation and prenatal ultrasound abnormality |
| TANG Zhong-feng, LIN Xiao-juan, YANG Lei, SONG Xiao-yu, WU Ju, DAI Wei-si, SUN Qing-mei |
| Center of Prenatal Diagnosis Gansu Provincial Maternity and Child Health Care Hospital, Lanzhou 730050, China |
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Abstract Objective: To investigate the correlation between abnormal structure of prenatal ultrasound and chromosome copy number variation(CNV), so as to provide a suitable prenatal diagnosis strategy for pregnant women with abnormal structure in pregnancy. Methods: A retrospective analysis was carried out in 837 pregnant women with high throughput sequencing of chromosomes in our hospital. Through different prenatal diagnostic indications, the correlation between abnormal structural indications of ultrasound examination and the CNV of high throughput sequencing in pregnancy was evaluated. Results: The gestational ultrasonic indications in the CNV of high throughput sequencing were 79.4%. Compared with the previous single fetal chromosome karyotype analysis, 4.1% chromosomal abnormalities could be found by high throughput sequencing CNV detection. Conclusion: The abnormal ultrasound structure during pregnancy or the soft indexes of multiple ultrasound suggests the analysis of fetal chromosome karyotype and high throughput sequencing CNV detection is necessary, which can improve the prenatal diagnosis rate and decrease the incidence of birth defects.
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Received: 03 September 2018
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