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. 2014 Jan 9;2(2):166–175. doi: 10.1002/mgg3.57

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.