Molecular Cytogenetics

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

Case	SCA	Maternal Age	Routine Screen texts	BOBs	Fetal Karyotype	Maternal Karyotype	Pregnancy Outcome
1	45,X	36	Normal	ND	46,XX	ND	Normal female
2	45,X	32	T21 1/996	46,XX	46,XX	ND	Normal female
3	45,X	27	NT 2.7 mm	45,X	ND	ND	TOP
4	45,X	38	Normal	ND	46,XY	ND	Miscarriage
5	45,X	34	Normal	ND	46,XX	46,XX	Normal female
6	45,X	31	T21 1/615	46,XX	46,XX	ND	Normal female
7	45,X	29	T21 1/895	Declined	Declined	ND	Unknown
8	45,X	35	Normal	ND	46,XX	ND	Normal female
9	45,X	34	Normal	Declined	Declined	ND	Unknown
10	45,X	30	NT 5.4 mm pleural effusion	ND	45,X	ND	TOP
11	45,X	36	Normal	Declined	Declined	ND	Unknown
12	45,X	30	NT 7.7 mm	ND	ND	ND	Unknown
13	45,X	31	T21 1/424	ND	ND	ND	Unknown
14	45,X	27	T21 1/252	ND	POC 45,X	ND	Miscarriage
15	45,X	31	T21 1/758	ND	46,XX	ND	Unknown
16	45,X	33	hypertension	46,XX	ND	ND	Unknown
17	45,X	32	Normal	Declined	Declined	ND	Unknown
18	45,X	39	Normal	Declined	Declined	ND	Unknown
19	45,X	34	NT 2.1 mm	46,XX	ND	ND	Unknown
20	45,X	34	Normal	ND	46,XX	ND	Unknown
21	45,X	33	T21 1/911	46,XX	46,XX	ND	Unknown
22	XXX	37	Suspected XXX	Declined	Declined	47,XXX	Normal female
23	XXX/T18	35	Normal	mos 47,XXX, dup(18)(q12–22)/47,XXX	mos 47,XXX[74]/47,XX,+ 18[26]	ND	TOP
24	XXX	36	Normal	Declined	Declined	ND	Normal female
25	XXX	33	T21 1/460	ND	46,XY	ND	Normal male
26	XXX	34	Normal	ND	47,XXX	ND	TOP
27	XXX	28	T21 1/429 NT 2.4 mm	47,XXX	ND	ND	TOP
28	XXY	34	Normal	ND	47,XXY	ND	TOP
29	XXY	37	Normal	ND	47,XXY	ND	TOP
30	XXY	39	Fetal death history	47,XXY	47,XXY	ND	TOP
31	XXY	36	Normal	Normal	46,X,del(X)(p22.2)	ND	TOP
32	XXY	44	Normal	47,XXY	47,XXY	ND	TOP
33	XXY	36	Normal	47,XXY	47,XXY	ND	TOP
34	XXY	22	T21 1/460	47,XXY	47,XXY[96]/46,XY[4]	ND	TOP
35	XXY	37	Normal	47,XXY	47,XXY	ND	TOP
36	XXY	35	Normal	47,XXY	ND	ND	TOP
37	XXY	25	Fetal death history	ND	Declined	ND	Unknown
38	XXY	26	Normal	ND	47,XXY	ND	TOP
39	XXY	34	Normal	47,XXY	ND	ND	TOP
40	XYY	35	Fetal death history	Declined	Declined	ND	Normal male
41	XYY	34	Normal	XXY/XY	47,XXY[35]/46,XY[51]	ND	TOP
42	XYY	31	T21 1/926	ND	46,XX	ND	Normal female
43	XYY	38	Hypertension	ND	47,XYY	ND	TOP
44	XYY	34	NT 3.8 mm	ND	47,XYY	ND	TOP

Abbreviations: NT Nuchal translucency, ND Not done, POC Products of conception

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ISSN: 1755-8166

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