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 ^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 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.