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. 2019 Sep 18;11(3):8124. doi: 10.4081/hr.2019.8124

Table 2.

Negative cases of the NIPST using modified ARMS RT- PCR for the detection of PIBTM in maternal plasma cell-free DNA in the at-risk couples.

Couple No. Maternal mutation Paternal mutation Gestation age (week) Paternal ARMS test ARMS results Postnatal diagnosis
1 CD17 A→T CD26 G→A 16 CD26 NEG CD17 trait
2 IVS1-1 G→T CD26 G→A 16 CD26 NEG Normal
3 -28 A→G CD26 G→A 10 IVS1-1 NEG -28 trait
4 CD17 A→T CD26 G→A 10 CD41/42 NEG Unaffected
5 CD26 G→A CD41/42 –CTTT 18 CD41/42 NEG Normal
6 CD26 G→A CD41/42 –CTTT 11 CD41/42 NEG Unaffected
7 CD41/42 –CTTT -28 A→G 18 CD17 NEG Unaffected
8 CD17 A→T CD26 G→A 16 CD41/42 NEG CD17 trait
9 CD17 A→T CD26 G→A 19 CD17 NEG Normal
10 CD41/42 –CTTT CD17 A→T 13 -28 NEG CD41/42 trait
11 CD26 G→A CD41/42 –CTTT 15 CD26 NEG CD26 trait
12 IVS1-1 G→T CD26 G→A 16 CD26 NEG Normal
13 CD41/42 –CTTT CD26 G→A 16 CD26 NEG CD41/42 trait
14 CD41/42 –CTTT CD26 G→A 14 CD26 NEG Normal
15 CD17 A→T CD41/42 –CTTT 14 CD26 NEG Normal
16 CD41/42 –CTTT CD26 G→A 10 CD41/42 NEG Normal
17 CD17 A→T CD26 G→A 7 CD26 NEG CD17 trait
18 CD26 G→A IVS1-1 G→T 8 CD26 NEG CD26 trait
19 CD26 G→A CD41/42 –CTTT 10 CD26 NEG CD26 trait

NEG, Negative result; POS, Positive results; Unaffected baby did not determine thalassemia genotype.