Table 3 Karyotype analysis and CNV results of 15 cases with fetal chromosome duplication 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 | 27 | 18+3 | Only NIPT | Chr14:dup(75 Mb-105 Mb), 30 Mb | 46,XN,inv(14)(q24q32) | Chr14:dup(q24.3q32.33), 28.61 Mb |
2 | 30 | 20+4 | High risk of trisomy 21 | Chr13:dup(27 Mb-30 Mb), 3 Mb | 46,XN | Chr13:dup(q12.2), 0.46 Mb; Chr13:dup(q12.3), 0.48 Mb |
3 | 36 | 15+1 | Advanced maternal age | Chr12:dup(0.1 Mb-21 Mb), 21 Mb | 46,XN,15cen+ | No abnormalities |
4 | 28 | 20+2 | Serological screening indicated low risk | Chr8:dup(34 Mb-40 Mb), 7 Mb | 46,XN | No abnormalities |
5 | 33 | 23+2 | Only NIPT | Chr20:dup(5 Mb-9 Mb), 4 Mb | 46,XN | No abnormalities |
6 | 37 | 19+6 | Advanced maternal age | Chr8:dup(85 Mb-91 Mb), 6 Mb | 46,XN | Chr8:dup(q21.2), 0.52 Mb |
7 | 28 | 14+6 | Only NIPT | Chr20:dup(47 Mb-58 Mb), 11 Mb | 46,XN | No abnormalities |
8 | 39 | 14+2 | Advanced maternal age | Chr12:dup(1 Mb-33 Mb), 32 Mb | Refused | Chr12:dup(p13.33p12.1), 23.6 Mb |
9 | 36 | 17+5 | Advanced maternal age | Chr11:dup(97 Mb-125 Mb), 29 Mb | 46,XN,dup(11)(q21q23) | Chr11:dup(q21q23.3), 20.12 Mb; Chr11:dup(q25), 0.63 Mb |
10 | 21 | 17+5 | Abnormal AFP MOM | Chr18:dup(0.1 Mb-13 Mb), 13 Mb | Refused | Chr18:dup(p11.32p11.21), 14.79 Mb |
11 | 34 | 16+0 | Only NIPT | Chr11:dup(56 Mb-133 Mb), 78 Mb | 46,XN | Chr16:dup(p11.2), 1 Mb |
12 | 39 | 17+1 | Advanced maternal age | Chr8:dup(116 Mb-129 Mb), 14 Mb | Refused | Chr8:dup(q23.3q24.12), 4.24 Mb; Chr17:dup(q21.32q22), 4.65 Mb |
13 | 29 | 19+6 | Only NIPT | Chr18:dup(0.1 Mb-11 Mb), 11 Mb | 46,XN | No abnormalities |
14 | 30 | 16+4 | Only NIPT | Chr15:del(38 Mb-100 Mb), 62 Mb | 46,XN | No abnormalities |
15 | 35 | 16+5 | Only NIPT | Chr20:del(3 Mb-60 Mb), 57 Mb | 46,XN | No abnormalities |
16 | 33 | 17+4 | Serological screening indicated low risk | Chr20:del(33 Mb-61 Mb), 28 Mb | 46,XN | No abnormalities |