Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening. Issue 8 (27th April 2020)

• Record Type: Journal Article
• Authors: Lan, Liubing; Wu, Heming; She, Lingna; Zhang, Bosen; He, Yanhong; Luo, Dandan; Wang, Huaxian; Zheng, Zhiyuan
• Is Part Of: Journal of clinical laboratory analysis. Volume 34:Issue 8(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-04-27
• Subjects: chromosomal karyotype -- copy number variation sequencing -- nuchal translucency; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.23347
• Languages: English
• ISSNs: 0887-8013

Abstract

Abstract: Objective: Copy number variation sequencing (CNV‐seq) technique was used to analyze the genetic etiology of fetuses with increased nuchal translucency (NT). Methods: A total of 139 women with gestational 11‐14 weeks whose fetuses were detected with increased NT (NT ≥ 2.5 mm) in our hospital from July 2016 to December 2018 were selected. Fetal specimens were performed for karyotyping analysis and CNV sequencing. Results: According to the nuchal translucency thickness, 2.5‐3.4, 3.5‐4.4, 4.5‐5.4, and more than 5.5 mm, the rates of chromosomal abnormalities were 22.8% (13/57), 30.8% (12/39), 42.1% (8/19), and 62.5% (15/24), respectively. There was significant difference among the incidences of chromosomal abnormalities in four groups (χ 2 = 37.69, P < .01) and the incidences increased with fetal NT thickness. Among 139 cases, there were 36 cases (25.9%) with abnormal chromosome karyotypes. Meanwhile, there were 45 cases (32.3%) with abnormal CNV. In the 12 cases with abnormal CNV and normal chromosome karyotypes, there were 2 cases of pathogenic CNV, 7 cases of CNV with unknown clinical significance, and 3 cases of possibly benign CNV. There was no significant difference in CNV between pregnant women in advanced maternal age and those in normal maternal age (χ 2 = 1.389, P = .239). In the fetus who showed abnormalities in NT and ultrasonography (χ 2 = 5.13, P < .05) and the fetus aborted (χ 2 = 113.19, P < .05), the abnormal rate of CNV was higher with statistically significant difference. Conclusion: CNV‐seq combined karyotype analysis should be performed simultaneously in fetuses with increased NT, providing a basis for genetic counseling, which is of great significance for prenatal diagnosis.