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 4 List of clinically significant CMA findings for group 2.
| Case | Age (years) | USG soft marker | CMA result | Copy number changes | Size (Mb) | Conc. | Outcome |
|---|---|---|---|---|---|---|---|
| 16 | 29 | Long bone dysplasias | arr[GRCh37] 1q21.1q21.2(145895746-147898062)×1 | Del | 2.00 | Pathogenic | TOP |
| 17 | 23 | Nasal bone dysplasia | arr[GRCh37] 1q21.1q21.2(146023922-147820342)×3 | Dup | 1.80 | Pathogenic | TOP |
| 18 | 28 | Increased NT | arr[GRCh37] 1q21.1q21.2(146030328-147391923)×3 | Dup | 1.36 | Pathogenic | TOP |
| 19 | 32 | Cerebral ventriculomegaly | seq[hg19] 1q21.1-q21.2(145740000-147720000)×3 | Dup | 1.98 | Pathogenic | TOP |
| 20 | 27 | Increased NT | arr[GRCh37] 2q37.1(232768360-232955363)×0 | Del | 0.19 | Likely pathogenic | TOP |
| 21 | 27 | nasal bone dysplasia | arr[hg19] 4q24q25(107311349-108475537)×3 | Dup | 1.16 | Likely pathogenic | LB/BH |
| 22 | 29 | Increased NT | arr[hg19] 5q14.2q14.3(82251766-86044633)×1 | Del | 3.79 | Likely pathogenic | TOP |
| 23 | 31 | Increased NT | arr[hg19]| 11q25(134064675-134835852)×3 | Dup | 0.77 | Likely pathogenic | LB/BH |
| 24 | 26 | Nasal bone dysplasia | arr[hg19] 15q11.2q13.1(23688944-28375872)×1 | Del | 4.69 | Pathogenic | TOP |
| 25 | 23 | Nasal bone dysplasia | arr[GRCh37] 16p13.11(14910158-16495076)×1 | Del | 1.59 | Pathogenic | TOP |
| 26 | 28 | Nasal bone dysplasia | seq[hg19] 17p12(14120000-15360000)×1 | Del | 1.24 | Likely benign | LB/BH |
| 27 | 26 | Increased NT | arr[GRCh37] 17p12(14077970-15484335)×1 | Del | 1.41 | Pathogenic | LB/BH |
| 28 | 30 | Increased NT | seq[hg19] 22q11.21 (18980000-21460000)×1 | Del | 2.48 | Pathogenic | TOP |
| 29 | 31 | Cervical lymphatic hygroma | seq[hg19] 22q11.21(19040000-20320000) ×3 | Dup | 1.28 | Pathogenic | LB/BH |
| 30 | 21 | Increased NT | arr[GRCh37] 16p11.2(28748616-29051191)×1 | Del | 0.30 | Pathogenic | TOP |
| 30 | 21 | Increased NT | arr[GRCh37] Xp21.1(31728920-31962949)×0 | Del | 0.23 | Pathogenic | TOP |
| CMA – chromosomal microarray analysis; Del – deletion; Dup – duplication; TOP – termination of pregnancy; LB – live birth; NT – nuchal translucency; BH – born healthy. | |||||||