Table 1 Clinical characteristics and chromosomal abnormalities detected by conventional karyotyping
Case number | Maternal age | Gestational age | Ultrasound findings | Karyotype | CMA results | Related syndrome | Outcomes |
|---|---|---|---|---|---|---|---|
1 | 34 | 18 | FGR, increased nuchal translucency, tricuspid regurgitation | 47,XX, + 13 | NA | Patau sydrome | TOP |
2 | 25 | 20 | FGR | 47,XX, + 21 | arr[GRCh37] (21) × 3 | Down syndrome | TOP |
3 | 26 | 19 | FGR, increased nuchal fold, echogenic bowel | 47,XX, + 21 | arr[GRCh37] (21) × 3 | Down syndrome | TOP |
4 | 21 | 24 | FGR | 47,XX, + 21 | NA | Down syndrome | TOP |
5 | 29 | 20 | FGR | 47,XX, + 21 | arr[GRCh37] (21) × 3 | Down syndrome | TOP |
6 | 29 | 18 | FGR | 47,XX, + 21 | arr[GRCh37] (21) × 3 | Down syndrome | TOP |
7 | 32 | 19 | FGR, increased nuchal fold, nasal bone dysplasia, echogenic bowel, tricuspid regurgitation | 47,XY, + 21 | arr[GRCh37] (21) × 3 | Down syndrome | TOP |
8 | 33 | 27 | FGR | 47,XXX | arr[GRCh37] (X) × 3 | 47,XXX syndrome | TOP |
9 | 26 | 30 | FGR | 47,XXX | arr[GRCh37] (X) × 3 | 47,XXX syndrome | TOP |
10 | 31 | 33 | FGR | 47,XXY | NA | Klinefelter syndrome | TOP |
11 | 32 | 20 | Oligohydramnios, Increased nuchal fold | 47,XX, + mar dn | arr[GRCh37] 3p12.1p11.1(85,527,865–90,130,204) × 3,3q11.1q11.2(93,674,112–95,321,299) × 3 arr[GRCh37] 3p13p12.1(72,069,483–86,073,653) hmz,3q11.2q22.3(95,320,713–137,634,506) hmz |  | TOP |
12 | 24 | 24 | FGR, increased nuchal fold, aberrant right subclavian artery | 46,XX,add(10)(q26) | arr[GRCh37]10q26.2q26.3(128,251,975–135,426,386) × 1,11q23.3q25(116,683,754–134,937,416) × 3 |  | TOP |
13 | 23 | 21 | FGR | 46,XX,der(9)ins(9;5)(q34.2;q35q34)mat | NA | Â | TOP |
14 | 27 | 23 | FGR, increased nuchal fold | 46,XX,dup(12)(q14q23) | arr[GRCh37] 12q14.2q23.1(64,877,459–97,710,202) × 3 dn |  | TOP |
15 | 29 | 28 | FGR | 46,XY,add(7)(q35) | arr[GRCh37] 7q36.2q36.3(152,747,657–159,119,707) × 1, 11q23.1a25(111,067,572–134,937,416) × 3 |  | TOP |
16 | 29 | 23 | FGR, mild ventriculomegaly, single umbilical artery, echogenic intracardiac focus | 46,XY,del(4)(p15.3) | arr[GRCh37] 4p16.3p15.31(68,345–20,522,754) × 1 | Wolf-Hirschhorn syndrome | TOP |
17 | 30 | 21 | FGR | 46,X, + mar[54]/45,X[30] | NA | Turner syndrome | TOP |
18 | 40 | 24 | FGR, Oligohydramnios | 47,XX, + psu idic(9)(q12)[39]/46,XX[11] | arr[GRCh37] 9p24.3q13(208,454–68,216,577) × 4 |  | TOP |
19 | 31 | 27 | FGR, Single umbilical artery | 47,XY + 8[27]/46,XY[23] | NA |  | TOP |