Table 3.
CMA findings in prenatal tests (including cases tested after the termination of pregnancy).
| Case | Indication | Karyotype | CMA | Clinical significance | Outcome |
|---|---|---|---|---|---|
| 1 | Isolated increased nuchal translucency | – | arr[hg19] Xp21.1(31,665,779–32,096,779) × 3 | UCS | Termination of pregnancy |
| 2 | Recurrent spontaneous abortions | – | arr[hg19] 8q11.1q11.23(47,060,977–52,693,165) × 2 hmz | UCS | Tested after the termination of pregnancy |
| 3 | Positive triple test | 46,XX | Multiple long stretches of homozygosity | Pathogenic | Termination of pregnancy |
| 4 | Positive triple test | 46,XX[64]/47,XX,+7[9] | arr(7) × 2–3 (10–20%) | Likely benign | Normal female at term |
| 5 | Abnormal ultrasound | – | arr[hg19] 7p14.1p13(42,179,377–44,932,538) × 1 | Pathogenic (Greig syndrome, OMIM 175700) | Tested after the termination of pregnancy |
| 6 | Familial balanced rearrangement | 46,XX,rec(4)dup(4p)del(4q)inv(4)(p15.3q35)pat | arr[hg19] 4p13.33p16.3(1–13,912,694)x3, 4q35.2(188,730,709–190,880,409) × 1 | Pathogenic | Termination of pregnancy |
| 7 | Familial balanced rearrangement | 46,XY,inv(10)(p11.2;q21.2)mat | arr[hg19] 12q14.2q15(63,291,364–68,794,078) × 2 hmz | UCS | Not known |
| 8 | Dysmorphic fetus | – | Multiple long stretches of homozygosity | Pathogenic | Tested after the termination of pregnancy |
CMA, chromosomal microarray analysis; UCS, unknown clinical significance.