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. 2020 Feb 13;7(7):1903354. doi: 10.1002/advs.201903354

Table 1.

Results of thalassemia related mutations in candidate fetal trophoblastic cells

Patient Age Gestational age (week) Single cells Genotypes for Father Mother Fetus (rare‐cell analysis) AC/CVS/ postnatal testing
P1 29 22+1 5 α‐globin SEA/ α α SEA/ α α SEA/ α α SEA/ α α
P2 25 23+6 6 β‐globin normal CDs41/42(‐TCTT) normal normal
P4 31 4+4 6 α‐globin SEA/ α α α α/ α α SEA/ α α SEA/ α α
P5 30 29+2 5 α‐globin SEA/ α α SEA/ α α SEA/ –SEA SEA/ –SEA
P18 19 13+6 5 α‐globin α α/ α α SEA/ α α α α/ α α normal
P30 25 32+6 4 α‐globin SEA/ α α SEA/ α α SEA/ –SEA SEA/ –SEA
P50 17 10 4 β‐globin normal CDs41/42(‐TCTT) CDs41/42(‐TCTT) CDs41/42(‐TCTT)
P54 27 17+5 5 β‐globin IVS‐II‐654(C > T) IVS‐II‐654(C > T) normal normal
P58 27 17+2 4 β‐globin IVS‐II‐654(C > T) −28(A > G) −28(A > G) −28(A > G)
P59 29 32 4 β‐globin normal IVS‐II‐654(C > T) normal normal
P60 27 16 7 α‐and β‐globin SEA/ α α, −28(A > G) normal −28(A > G) −28(A > G)