Table 3 Segmental aneuploidies of the 782 fetuses with USMs.
Sample Number | USMs | Gestational Age (weeks) | Maternal Age (years) | Segmental Aneuploidies (size) (hg19) | Known Chromosome Disease Syndromes | Origin | Confirmation Test | Follow-up Outcome |
|---|---|---|---|---|---|---|---|---|
P17 | echogenic focus in the heart, persistent left superior vena cava | 23 | 30 | del1q21.1q21.2 (1.26 Mb) | 1q21.1 recurrent microdeletion | unknown | CMA | termination of pregnancy |
P5 | tricuspid regurgitation | 29.3 | 29 | del1q21.1q21.2 (1.34 Mb) | 1q21.1 recurrent microdeletion | maternal | CMA | termination of pregnancy |
P2 | thickened nuchal fold | 21.2 | 30 | del1q21.1 (0.36 Mb) | 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius syndrome | unknown | CMA | termination of pregnancy |
P8 | mild ventriculomegaly, mild pyelectasis | 22.5 | 26 | dup3q26.33q29 (15.28 Mb) del10q26.3 (2.54 Mb) | 3q29 microduplication syndrome | Maternal balanced reciprocal translocation | CMA | termination of pregnancy |
P7 | mild ventriculomegaly | 33.3 | 39 | del5p15.33p13.3(33.38 Mb) | Cri du Chat Syndrome | unknown | CMA | termination of pregnancy |
P3 | thickened nuchal fold | 20.3 | 27 | del17q12 (1.36 Mb) | renal cysts and diabetes | de novo | CMA | termination of pregnancy |
P6 | mild pyelectasis | 23.6 | 26 | del17q12(1.46 Mb) | renal cysts and diabetes | unknown | CMA | termination of pregnancy |
P9 | dilatation of the umbilical vein, short long bones | 22 | 39 | del7q11.23 (3.80 Mb) | Williams-Beuren Syndrome | de novo | CMA | termination of pregnancy |
P4 | Absence or dysplasia of nasal bone | 27.1 | 30 | del4p16.3p15.1 (29.50 Mb) | Wolf-Hirschhorn Syndrome | unknown | CMA | termination of pregnancy |
P1 | echogenic focus in the heart | 26.5 | 25 | del16p13.11 (1.18 Mb) | 16p13.11 recurrent microdeletion | de novo | CMA | no structural abnormality visible until 37 weeks of gestation |
P10 | echogenic focus in the heart | 24 | 26 | del3p26.3p26.2 (2.60 Mb) | — | de novo | CMA | normal development at 4 months |
P11 | short long bones | 28.3 | 27 | dup11q14.1q25 (57.24 Mb) delXp22.33p11.22 (50.76 Mb) | — | unknown | karyotyping | termination of pregnancy |
P18 | single umbilical artery, short long bones, tricuspid regurgitation | 25.2 | 40 | dup8p23.1p21.2 (12.92 Mb) del8p23.3p23.1 (6.78 Mb) | — | de novo | CMA | termination of pregnancy |
P20 | mild ventriculomegaly, mild mitral and tricuspid regurgitation | 22.4 | 37 | dup1q32.2q44 (41.80 Mb) dup15q11.1q13.2 (10.20 Mb) | — | Maternal balanced reciprocal translocation | karyotyping | termination of pregnancy |
