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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 4 List of clinically significant CMA findings for group 2.

CaseAge (years)USG soft markerCMA resultCopy number changesSize (Mb)Conc.Outcome
1629Long bone dysplasiasarr[GRCh37] 1q21.1q21.2(145895746-147898062)×1Del2.00PathogenicTOP
1723Nasal bone dysplasiaarr[GRCh37] 1q21.1q21.2(146023922-147820342)×3Dup1.80PathogenicTOP
1828Increased NTarr[GRCh37] 1q21.1q21.2(146030328-147391923)×3Dup1.36PathogenicTOP
1932Cerebral ventriculomegalyseq[hg19] 1q21.1-q21.2(145740000-147720000)×3Dup1.98PathogenicTOP
2027Increased NTarr[GRCh37] 2q37.1(232768360-232955363)×0Del0.19Likely pathogenicTOP
2127nasal bone dysplasiaarr[hg19] 4q24q25(107311349-108475537)×3Dup1.16Likely pathogenicLB/BH
2229Increased NTarr[hg19] 5q14.2q14.3(82251766-86044633)×1Del3.79Likely pathogenicTOP
2331Increased NTarr[hg19]| 11q25(134064675-134835852)×3Dup0.77Likely pathogenicLB/BH
2426Nasal bone dysplasiaarr[hg19] 15q11.2q13.1(23688944-28375872)×1Del4.69PathogenicTOP
2523Nasal bone dysplasiaarr[GRCh37] 16p13.11(14910158-16495076)×1Del1.59PathogenicTOP
2628Nasal bone dysplasiaseq[hg19] 17p12(14120000-15360000)×1Del1.24Likely benignLB/BH
2726Increased NTarr[GRCh37] 17p12(14077970-15484335)×1Del1.41PathogenicLB/BH
2830Increased NTseq[hg19] 22q11.21 (18980000-21460000)×1Del2.48PathogenicTOP
2931Cervical lymphatic hygromaseq[hg19] 22q11.21(19040000-20320000) ×3Dup1.28PathogenicLB/BH
3021Increased NTarr[GRCh37] 16p11.2(28748616-29051191)×1Del0.30PathogenicTOP
3021Increased NTarr[GRCh37] Xp21.1(31728920-31962949)×0Del0.23PathogenicTOP
CMA – chromosomal microarray analysis; Del – deletion; Dup – duplication; TOP – termination of pregnancy; LB – live birth; NT – nuchal translucency; BH – born healthy.

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