Table 2 Details of discordant cases
Patient | NIPS result | Other clinical information | Fetal diagnostic genetic test results | Maternal results |
|---|---|---|---|---|
31 | Abnormal for DSa | US at 19.3w multiple anomalies consistent with T18 | nuc ish (D21S259x2) on FFPE fetal tissue | Not offered |
32 | Abnormal for DS | US at 12.3w abnormal NT; US at 20.7w normal; postpartum note “delivered a male infant at 36.6w…birth weight 6 lbs 10 oz….” | Declined | Not offered |
33 | Abnormal for DS | Paternal first cousin with DS; US at 13.4w normal NT; US at 16.6w normal | 46,XY in all 15 amniocyte clones; arr(1-22)x2,(XY)x1 on amniocytes | 46,XX in all 20 peripheral blood cells analyzed and 30 additional cells screened for 21 |
41 | Abnormal for T18 | AMA; FTS pos DS (1 in 43); US at 13.1w normal NT; US at 17.6w and 19.7w normal | Declined | Not offered |
42 | Abnormal for T18 | AMA; US at 19.6w normal | nuc ish(D18Z1x2)[200/200] on uncultured amniocytes; 46,XY in all 52 amniocyte clones | Not offered |
43 | Abnormal for T18 | AMA; US at 12.7w normal NT; US at 20.4w normal | Declined | Not offered |
44 | Abnormal for T18 | US at 19.0w EIF; discharge exam: “Baby does not have any physical exam findings concerning for trisomy 18.” | Declined | Not offered |
46 | Abnormal for T13 | AMA; US at 13.7w normal NT; US at 20.4w normal | nuc ish(RB1x2)[50/50] on uncultured amniocytes; 46,XX in all 15 amniocyte clones | 46,XX in all 20 peripheral blood cells analyzed and 50 additional cells screened for 13 |
51 | Abnormal for 45,X | AMA; US at 19.3 normal | nuc ish(DXZ1x2), (DYZ3x0)[191/200]; 46,XX in all 21 amniocyte clones and 100 cells from mass culture | 45,X[5]/46,XX[45] in peripheral blood |
52 | Abnormal for 45,X | AMA; US at 12.3w normal NT; US at 20.3w normal | nuc ish(DXZ1x2)[220/225], (DYZ3x0)[225/225] on uncultured amniocytes; 46,XX in all 16 amniocyte clones analyzed and 22 additional clones screened for 45X | 46,XX in all 20 peripheral blood cells analyzed and 30 additional cells screened for X |
55 | Abnormal for 47,XXX | US at 18.8w unilateral CPC and unilateral renal pelviectasis | 46,XX in all 20 cells analyzed from peripheral blood postnatally | 46,XX in all 20 peripheral blood cells analyzed and 30 additional cells screened for X |
56 | Abnormal for 47,XXX | Quad screen pos DS 1 in 15, maternal diabetes and renal failure, US at 21.3w two-vessel cord | 46,XX in all 20 cells analyzed from peripheral blood at 7 weeks of age | Not done secondary to chaotic family circumstances |