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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 5 List of clinically significant CMA findings for group 3.

CaseAge (years)Soft markerCMA resultCopy number changesSize (Mb)Conc.Outcome
3137Increased NTarr[GRCh37] 5q23.3(127674203-127935410)×1Del0.26PathogenicLB/BH
3237Increased NTarr[GRCh37] 7q21.11(83597906-84859535)×1Del1.26Likely pathogenicLB/BH
3337Cervical lymphatic hygromaseq[hg19] 13q33.2-q34(105320000-115100000)×1Del9.78PathogenicTOP
3436Choroidplexuscystarr[GRCh37] 16p13.11(15051744-16508123)×3Dup1.46Likely pathogenicLB/BH
3539Increased NTseq[hg19] 17p12(14100000-15440000)×3Dup1.34PathogenicLB/BH
3641Choroidplexuscystarr[GRCh37] Xp22.31(6774894-7873402)×1Del1.10PathogenicLB/BH
3735Intestinal echo enhancementseq[hg19] 46,XX, Xp21.1(33320000-33520000)×3.7Dup0.20Likely pathogenicTOP
CMA – chromosomal microarray analysis; Del – deletion; Dup – duplication; TOP – termination of pregnancy; LB – live birth; BH – born healthy; NT – nuchal translucency; NF – nuchal fold.

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750