Table 1:
Population-based retrospective series investigating the association between discordant NIPT results and maternal malignancies
|
type of reported maternal malignancies |
||||||||||||||||||||||||
|
solid cancer type |
hematological cancer type |
|||||||||||||||||||||||
|
Reference |
type of test |
number of NIPT tests |
NIPT tests suspicious of maternal cancer |
malignancies reported (in those with follow-up) |
detection rate of cancers in pregnancy |
PPV (%) |
time NIPT to cancer diagnosis (days) |
breast cancer |
cervical cancer |
ovarian cancer |
liver cancer |
colorectal cancer |
lung cancer |
lymphoma, type not specified |
Hodgkin lymphoma |
non-Hodgkin lymphoma |
follicular lymphoma |
T-cell lymphoma |
multiple myeloma |
chronic myeloid leukemia |
acute myeloid leukemia |
other malignancies or not specified |
||
|
Goldring et al. |
[17] |
SNP–based technology, targeted analysis |
2.004.428 |
38 |
20 (30) |
1 : 100.221 |
66,7 |
0–330 (median 210) |
5 |
1 |
3 |
6 |
4 |
1 |
||||||||||
|
Heesterbeek et al. |
[14] |
sequencing, genome-wide analysis |
168.452 |
48 |
16 (48) |
1 : 10.528 |
33,3 |
567 or less (median 35) |
4 |
1 |
7 |
4 |
1 |
1 |
||||||||||
|
sequencing, targeted analysis |
63.444 |
3 |
2 (3) |
1 : 31.722 |
66,7 |
|||||||||||||||||||
|
Lenaerts et al. |
[19] |
sequencing, genome-wide analysis |
88.294 |
15 |
11 (15) |
1 : 8.027 |
73,3 |
6–57 (median 32) |
2 |
1 |
3 |
3 |
1 |
1 |
||||||||||
|
Ji et al. |
[16] |
sequencing, genome-wide analysis |
1.930.000 |
639 |
41 (542) |
1 : 47.073 |
7,6 |
0–366 (median 115) |
10 |
1 |
9 |
7 |
1 |
9 |
4 |
|||||||||
|
Dharajiya et al. |
[15] |
sequencing, targeted analysis |
450.000 |
55 |
18 (43) |
1 : 25.000 |
41,9 |
na |
4 |
1 |
4 |
1 |
1 |
1 |
1 |
1 |
4 |
|||||||
|
Bianchi et al. |
[13] |
sequencing, targeted analysis |
125.426 |
na |
10 (na) |
1 : 12.543 |
na |
21 – 273 (median 84) |
1 |
1 |
3 |
1 |
4 |
|||||||||||
na, not available; PPV, positive predictive value; SNP, single nucleotide polymorphism