Table 2 Karyotype analysis and CNV results of 15 cases with fetal chromosome deletion indicated by NIPT
From: Application value of NIPT for uncommon fetal chromosomal abnormalities
No | Age (years) | Gestational weeks | NIPT indication | NIPT results | Karyotype results | CNV results |
|---|---|---|---|---|---|---|
1 | 36 | 14+3 | Advanced maternal age | Chr9:del(23 Mb-32 Mb), 10 Mb | Refused | Chr9:del(p21.3p21.1), 10.13 Mb |
2 | 37 | 21+3 | Advanced maternal age | Chr22:del(18.64 Mb-20.14 Mb), 1.5 Mb | Refused | Chr22:del(q11.21), 1.02 Mb |
3 | 36 | 17+1 | Advanced maternal age | Chr15:del(24 Mb-28 Mb), 5 Mb | 46,XN | Chr15:del(q11.2q13.1), 4.96 Mb |
4 | 37 | 16+6 | Advanced maternal age | ChrX:del(4 Mb-19 Mb), 15 Mb | 46,XN | Chr4:del(q35.2), 2.54 Mb; ChrX:del(q28), 0.26 Mb |
5 | 40 | 15+6 | Advanced maternal age | Chr5:del(127.22 Mb-130.70 Mb), 3.48 Mb | 46,XN | No abnormalities |
6 | 35 | 14+5 | Only NIPT | Chr9:del(100 Mb-110 Mb), 10 Mb | 46,XN,del(9)(q22q31) | Chr9:del(q22.33q31.3), 9.68 Mb |
7 | 36 | 17+1 | Advanced maternal age | Chr6:del(76 Mb-145 Mb), 69 Mb; Chr13:del(59 Mb-80 Mb), 21 Mb | 46,XN | No abnormalities |
8 | 29 | 14+6 | Only NIPT | Chr22:del(18 Mb-22 Mb), 5 Mb | 46,XN,inv(9)(p12q13) | No abnormalities |
9 | 30 | 20+5 | Serological screening indicated low risk | Chr22:del(18 Mb-20 Mb), 3 Mb | 46,XN | Chr22:del(q11.21), 2.79 Mb |
10 | 35 | 16+5 | Only NIPT | Chr8:del(0.1 Mb-15 Mb), 15 Mb | 46,XN,del(8)(p21.3p23) | Chr8:del(p23.2p21.3), 14.94 Mb |
11 | 26 | 13+6 | Only NIPT | Chr18:del(65 Mb-76 Mb), 12 Mb | 46,XN | Chr18:del(q22.1q23), 12.41 Mb |
12 | 38 | 22+1 | Advanced maternal age | Chr22:del(19 Mb-20 Mb), 1.56 Mb | 46,XN | Chr22:del(q11.21), 0.96 Mb |
13 | 34 | 16+5 | NT (3.2 mm) | Chr1:del(54 Mb-58 Mb), 5 Mb | 46,XN | Chr1:del(p32.3p32.2), 3.42 Mb |
14 | 39 | 16+0 | Advanced maternal age | Chr22:del(18 Mb-20 Mb), 2.58 Mb | Refused | No abnormalities |
15 | 36 | 17+1 | Advanced maternal age | Chr4:del(75 Mb-81 Mb), 7 Mb | 46,XN | Chr4:del(q13.3q21.21), 8.12 Mb |