From: Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
No. | Age | Indication | Gestational age (weeks) | Specimen | Karyotype | Outcome |
---|---|---|---|---|---|---|
1 | 27 | MSS abnormality | 21 | Amniotic fluid | 47,XX, + mar | Normal at birth |
2 | 32 | NIPT abnormality (chromosome X) | 22 | Amniotic fluid | mos 46,X,r(X)[32]/45,X[18] | Terminated |
3 | 27 | MSS abnormality | 20 | Amniotic fluid | 47,XY, + dup(13)(q11q12.12) | Unknown |
4 | 39 | NIPT abnormality (chromosome X) | 19 | Amniotic fluid | 47,XX, + mar | Unknown |
5 | 42 | AMA | 19 | Amniotic fluid | mos 47,XY, + i(12)(p10)[14]/46,XY[16] | Terminated |
6 | 37 | AMA | 19 | Amniotic fluid | 47,XY, + idic(15)(q13.3) | Unknown |
7 | 27 | MSS abnormality | 19 | Amniotic fluid | mos 46,X,r(X)(p11.22q21.1)[36]/45,X[14] | Unknown |
8 | 40 | AMA | 22 | Amniotic fluid | 47,XX, + mar | Terminated |
9 | 41 | AMA | 20 | Amniotic fluid | 47,XX, + der(15)t(6;15)(p25.3;q13.2) | Terminated |
10 | 35 | MSS abnormality | 20 | Amniotic fluid | mos 47,XY, + mar[14]/46,XY[36] | Normal at birth |
11 | 25 | NIPT abnormality (chromosome X) | 19 | Amniotic fluid | 46,X,r(X)(q11.1q21.1) | Terminated |
12 | 27 | NIPT abnormality (chromosome X) | 21 | Amniotic fluid | mos 47,XX, + r(X)(p11.21q13.1)[27]/46,X,r(X)(p11.21q13.1)[1]/46,XX[8] | Terminated |
13 | 30 | Adverse pregnancy history | 18 | Amniotic fluid | 47,XX, + idic(15)(q13.3) | Normal at birth |
14 | 38 | AMA, MSS abnormality | 19 | Amniotic fluid | mos 47,XX, + mar[3]/46,XX[29] | Normal at birth |
15 | 40 | AMA, ultrasound abnormality | 24 | Amniotic fluid | mos 47,XY, + i(12)(p10)[10]/46,XY[18] | Terminated |
16 | 29 | Adverse pregnancy history | 19 | Amniotic fluid | mos 47,XX, + mar[3]/46,XX[36] | Normal at birth |
17 | 27 | Ultrasound abnormality | 25 | Amniotic fluid | mos 45,X[33]/46,X,r(X)(p11.21q21.1)[18] | Terminated |
18 | 36 | MSS abnormality | 22 | Amniotic fluid | mos 47,XY, + der(21)[12]/46,XY[84] | Stillbirth |
19 | 26 | NIPT abnormality (chromosome 9) | 15 | Amniotic fluid | mos 47,XX, + 9[12]/47,XX, + mar[5]/46,XX[33] | Unknown |
20 | 35 | AMA, NIPT abnormality (chromosome 15) | 14 | Amniotic fluid | 47,XY, + idic(15)(q13.3) | Unknown |
21 | 36 | AMA, ultrasound abnormality | 26 | Cord blood | mos 46,X,r(X)(p11.1q13.3)[35]/45,X[15] | Terminated |
22 | 34 | Ultrasound abnormality | 27 | Cord blood | mos 45,X[26]/46,X,r(X)(p11.3q13.3)[24] | Unknown |
23 | 29 | Ultrasound abnormality | 25 | Cord blood | 47,XY, + del(9)(q12) | Terminated |
24 | 39 | AMA | 26 | Cord blood | mos 47,XX, + i(18)(p10)[5]/46,XX[47] | Stillbirth |
25 | 27 | NIPT abnormality (chromosome X) | 27 | Cord blood | mos 46,X,r(Y)[16]/45,X[4] | Normal at birth |