Table 2.
Prenatal cases with chromosome anomalies not detectable by non-invasive prenatal testing (NIPT).
| Chromosome Anomaly | Sample Type | Detectable by NIPT |
|---|---|---|
| 46,XX.arr[GRCh37]16p11.2(29652999_30198600)x3 pat | AF | No |
| 46,XY.arr[GRCh37]2p15(61529343_61564040)x1 mat,16p11.2(28833437_29046252)x3 dn | AF | No |
| 46,XX.arr[GRCh37]22q11.2(19010936_20434800)x1 dn | CVS | No |
| 46,XX.arr[GRCh37]1p36.23p36.33(453255_7284969)x1 dn | CVS | No |
| 46,XX.arr[GRCh37]22q11.2(19110226_19854855)x1 dn | CVS | No |
| 46,XY.arr[GRCh37]1q43(237335376_237418407)x1 dn | AF | No |
| 46,XY.arr[GRCh37]1q21.1(145429097_146756493)x3 pat | AF | No |
| 47,XX,+9 | AF | No |
| 47,XY,+mar .ish der(9)(wcp9+)mat.arr[GRCh37](1-22)x2,(X,Y)x1 | CVS | No |
| 47,XY,+mar.ish der(22)(wcp22+,TUPLE1+).arr[GRCh37]22q11.1q11.21(17374086_20088001)x3 dn | CVS | No |
| 47,XY,+mar .ish der(9)(wcp9+).arr[GRCh37](1-22)x2,(X,Y)x1 | CVS | No |
| mos 47,XX,+mar[8]/46,XX[8].ish i(12)(p10)(wcp12+) | CVS | No |
| mos 46,XX,inv(5)(p14p15)[7]/46,XX[9].arr[GRCh37]8q22.2(100072320_100155410)3 pat | CVS | No |
| 45,XY,der(18;22)(p11?;q11?).ish der(18;22)(D18Z1+,D18S552;TUPLE1+,SHANK3+)dn.arr[GRCh37]6q16.1(95588523_95662060)x1 pat,18p11.32p11.21(146484_14117327)x1 | AF | No |
| 46,XX,add(8)(p23).ish dup(8)(p21?p23)(wcp8+)dn.arr[GRCh37]8p23.3p23.1(228758_6911631)x1,8p23.1p11.22(11858401_38964086)x3 | AF | No |
| 46,XX,der(10)t(10;12)(q26;q23).arr[GRCh37]10q26.13q26.3(123190101_135104747)x1,12q23.3q24.33 (106838149_132878426)x3 | CVS | No |
| Short term culture: 46,XY/Long term culture: mos 45,X[4]/46,XY[12] | CVS | Not sure |
| mos 45,X[4]/46,XX[26] | CVS | Not sure |
| mos 45,X[3]/46,XX[22] | CVS | Not sure |
AF: amniotic fluid; CVS: samples from chorionic villi.