Table 3 Variants of unknown significance detected in the enrolled fetuses using chromosomal microarray analysis.

From: Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Cases

CMA results

Size

Origin

Pathogenicity

Prenatal ultrasound examination results

Pregnancy outcome

Case 10

arr[GRCh37] 13q31.1q31.3(87,674,122_90,306,265) × 3

2.6 Mb

Paternal

VOUS

Right brain enlargement, craniosynostosis, microtia, brachydactyly of left thumb, congenital heart defect

TOP

Case 11

arr[GRCh37] 2q12.3q13(109,143,783_110,492,659) × 1, arr[GRCh37] 2q13(110,973,853_113,111,856) × 3

1.3 Mb; 2.1 Mb

/

VOUS

Anencephaly, enlarged heart

TOP

Case 12

arr[GRCh37] 6q22.1q22.31(118,049,152_119,335,244) × 3

1.2 Mb

/

VOUS

Holoprosencephaly, cleft lip and palate, beak nose

TOP

Case 13

arr[GRCh37] 7q21.11(82,710,348_83,035,315) × 3

324.9 Kb

/

VOUS

Spina bifida with lumbar meningo-myelocele

TOP

  1. VOUS variants of unknown significance, TOP termination of pregnancy, CMA chromosomal microarray analysis.
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