Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers

10 April 2021 : Clinical Research

Zhu-Ming Hu^1ABCE, Lei-Lei Li^1ABD, Han Zhang^1BF, Hong-Guo Zhang^1BC, Rui-Zhi Liu^1AFG, Yang Yu^1ACF*

DOI: 10.12659/MSM.929074

Med Sci Monit 2021; 27:e929074

Background Material and Methods Results Discussion Conclusions References

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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.

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