10 April 2021 : Clinical Research
Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers
Zhu-Ming Hu1ABCE, Lei-Lei Li1ABD, Han Zhang1BF, Hong-Guo Zhang1BC, Rui-Zhi Liu1AFG, Yang Yu1ACF*DOI: 10.12659/MSM.929074
Med Sci Monit 2021; 27:e929074
Table 5 List of clinically significant CMA findings for group 3.
| Case | Age (years) | Soft marker | CMA result | Copy number changes | Size (Mb) | Conc. | Outcome |
|---|---|---|---|---|---|---|---|
| 31 | 37 | Increased NT | arr[GRCh37] 5q23.3(127674203-127935410)×1 | Del | 0.26 | Pathogenic | LB/BH |
| 32 | 37 | Increased NT | arr[GRCh37] 7q21.11(83597906-84859535)×1 | Del | 1.26 | Likely pathogenic | LB/BH |
| 33 | 37 | Cervical lymphatic hygroma | seq[hg19] 13q33.2-q34(105320000-115100000)×1 | Del | 9.78 | Pathogenic | TOP |
| 34 | 36 | Choroidplexuscyst | arr[GRCh37] 16p13.11(15051744-16508123)×3 | Dup | 1.46 | Likely pathogenic | LB/BH |
| 35 | 39 | Increased NT | seq[hg19] 17p12(14100000-15440000)×3 | Dup | 1.34 | Pathogenic | LB/BH |
| 36 | 41 | Choroidplexuscyst | arr[GRCh37] Xp22.31(6774894-7873402)×1 | Del | 1.10 | Pathogenic | LB/BH |
| 37 | 35 | Intestinal echo enhancement | seq[hg19] 46,XX, Xp21.1(33320000-33520000)×3.7 | Dup | 0.20 | Likely pathogenic | TOP |
| CMA – chromosomal microarray analysis; Del – deletion; Dup – duplication; TOP – termination of pregnancy; LB – live birth; BH – born healthy; NT – nuchal translucency; NF – nuchal fold. | |||||||