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 Hu ABCE , Lei-Lei Li ABD , Han Zhang BF , Hong-Guo Zhang BC , Rui-Zhi Liu AFG , Yang Yu ACF*DOI: 10.12659/MSM.929074
Med Sci Monit 2021; 27:e929074
Table 3 List of clinically significant CMA findings for group 1.
Case | Age (years) | CMA result | Copy number changes | Size (Mb) | Conc. | Outcome |
---|---|---|---|---|---|---|
1 | 41 | arr[GRCh37] 1q21.1q21.2(145895746-147830830)×1 | Del | 1.94 | pathogenic | LB/BH |
2 | 37 | arr[GRCh37] 1q21.1q21.2(146488130-147830830)×3 | Dup | 1.34 | pathogenic | LB/BH |
3 | 36 | arr[GRCh37] 2q13(110983417-113111856)×1 | Del | 2.13 | likely pathogenic | TOP |
4 | 40 | arr[hg19]6q26(162724247-162841979)×1 | Del | 0.12 | likely pathogenic | LB/BH |
5 | 39 | arr[GRCh37] 14q23.3(67256159-67541139)×1 | Del | 0.29 | likely pathogenic | LB/BH |
6 | 41 | arr[GRCh37] 15q11.2q13.1(22770421-28560664)×3 | Dup | 5.79 | pathogenic | TOP |
7 | 35 | arr[GRCh37] 16p13.11(15058820-16272403)×3 | Dup | 1.21 | likely pathogenic | LB/BH |
8 | 36 | arr[GRCh37] 16p13.11(15154356-16309046)×3 | Dup | 1.16 | likely pathogenic | LB/BH |
9 | 36 | arr[GRCh37] 16p13.11p12.3(15481747-18172468)×3 | Dup | 2.69 | likely pathogenic | LB/BH |
10 | 35 | arr[GRCh37] 17p12(14099504-15428902)×3 | Dup | 1.33 | pathogenic | LB/BH |
11 | 40 | seq[hg19]21q22.12(36500000-36820000)×1 | Del | 0.32 | likely pathogenic | LB/BH |
12 | 39 | arr[hg19]22q11.21(18897763-21462353)×3 | Dup | 2.56 | pathogenic | LB/BH |
13 | 42 | seq[hg19]Xp22.31(6580000-8120000)×3 | Dup | 1.54 | likely pathogenic | LB/BH |
14 | 36 | arr[GRCh37] Xp22.31(6518528-7831857)×0 | Del | 1.31 | pathogenic | TOP |
15 | 37 | arr[GRCh37] Xp22.33(168551-3185614)×1 | Del | 3.02 | pathogenic | LB/BH |
CMA – chromosomal microarray analysis; Del – deletion; Dup – duplication; TOP – termination of pregnancy; LB – live birth; BH – born healthy. |