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Table 4 Findings in Pregnancies with SCAs Predicted by NIPT

From: Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

CaseSCAMaternal AgeRoutine Screen textsBOBsFetal KaryotypeMaternal KaryotypePregnancy Outcome
145,X36NormalND46,XXNDNormal female
245,X32T21 1/99646,XX46,XXNDNormal female
345,X27NT 2.7 mm45,XNDNDTOP
445,X38NormalND46,XYNDMiscarriage
545,X34NormalND46,XX46,XXNormal female
645,X31T21 1/61546,XX46,XXNDNormal female
745,X29T21 1/895DeclinedDeclinedNDUnknown
845,X35NormalND46,XXNDNormal female
945,X34NormalDeclinedDeclinedNDUnknown
1045,X30NT 5.4 mm pleural effusionND45,XNDTOP
1145,X36NormalDeclinedDeclinedNDUnknown
1245,X30NT 7.7 mmNDNDNDUnknown
1345,X31T21 1/424NDNDNDUnknown
1445,X27T21 1/252NDPOC 45,XNDMiscarriage
1545,X31T21 1/758ND46,XXNDUnknown
1645,X33hypertension46,XXNDNDUnknown
1745,X32NormalDeclinedDeclinedNDUnknown
1845,X39NormalDeclinedDeclinedNDUnknown
1945,X34NT 2.1 mm46,XXNDNDUnknown
2045,X34NormalND46,XXNDUnknown
2145,X33T21 1/91146,XX46,XXNDUnknown
22XXX37Suspected XXXDeclinedDeclined47,XXXNormal female
23XXX/T1835Normalmos 47,XXX, dup(18)(q12–22)/47,XXXmos 47,XXX[74]/47,XX,+ 18[26]NDTOP
24XXX36NormalDeclinedDeclinedNDNormal female
25XXX33T21 1/460ND46,XYNDNormal male
26XXX34NormalND47,XXXNDTOP
27XXX28T21 1/429 NT 2.4 mm47,XXXNDNDTOP
28XXY34NormalND47,XXYNDTOP
29XXY37NormalND47,XXYNDTOP
30XXY39Fetal death history47,XXY47,XXYNDTOP
31XXY36NormalNormal46,X,del(X)(p22.2)NDTOP
32XXY44Normal47,XXY47,XXYNDTOP
33XXY36Normal47,XXY47,XXYNDTOP
34XXY22T21 1/46047,XXY47,XXY[96]/46,XY[4]NDTOP
35XXY37Normal47,XXY47,XXYNDTOP
36XXY35Normal47,XXYNDNDTOP
37XXY25Fetal death historyNDDeclinedNDUnknown
38XXY26NormalND47,XXYNDTOP
39XXY34Normal47,XXYNDNDTOP
40XYY35Fetal death historyDeclinedDeclinedNDNormal male
41XYY34NormalXXY/XY47,XXY[35]/46,XY[51]NDTOP
42XYY31T21 1/926ND46,XXNDNormal female
43XYY38HypertensionND47,XYYNDTOP
44XYY34NT 3.8 mmND47,XYYNDTOP
  1. Abbreviations: NT Nuchal translucency, ND Not done, POC Products of conception