Table 2.
Consistent CNVs detected by the NIPSCCD method and amniocytes testing in this study
| Sample ID | Fetal gender | GW | Amniocytes testing (AT) | NIPSCCD results | Location accuracy | FF by ChrY | Pathogenicitya | |
|---|---|---|---|---|---|---|---|---|
| Location | Size (Mb) | |||||||
| EC13CD00073 | Female | 20 + 5 | Dup 4q28.1‐4q35.2 | 66.10 | Dup 4q27‐4q35.2 | Covered the AT | NA | NA |
| Del 5p15.33‐5p14.1 | 26.55 | Del 5p15.33‐5p14.1 | 99% covered by AT (26.3 Mb) | Cri‐du‐chat syndrome | ||||
| EC13SA00154 | Female | 24 + 6 | Dup 12p13.33‐12q11 | 37.80 | Dup 12p13.33‐12q12 | Covered the AT | NA | NA |
| Dup 10q25.1‐10q25.1 | 1.05 | Dup 10q25.1‐10q25.2 | Covered the AT | NA | ||||
| EC13EX00442 | Female | 19 | Del 5p15.33‐5p14.3 | 20.70 | Del 5p15.33‐5p14.3 | Covered the AT | NA | Cri‐du‐chat syndrome |
| Dup 9p24.3‐9p23 | 11.20 | Dup 9p24.3‐9p23 | Covered the AT | NA | ||||
| Dup 9p23‐9p22.3 | 1.00 | Dup 9p23‐9p22.3 | Covered 70% of the AT (0.7 Mb) | NA | ||||
| EC13BD00154 | Female | 22 + 3 | Dup 18q21.32‐18q23 | 20.60 | Dup 18q21.32‐18q22.3 | 97% covered by AT (14.55 Mb) | NA | NA |
| Del 18p11.32‐18p11.31 | 4.75 | Del 18p11.32‐18p11.21 | Covered the AT | Chromosome 18p deletion syndrome | ||||
| EC13BK00001 | Female | 21 + 5 | Del 5q35.2‐5q35.3 | 7.05 | Del 5q35.3‐Del 5q35.3 | 97% covered by AT (3.0 Mb) | 2.55% | NA |
| Dup 7q36.1‐7q36.3 | 6.55 | Dup 7q36.1‐7q36.3 | Covered the AT | NA | ||||
| EC13BK00003 | Female | 20 + 5 | Dup 16q24.1‐16q24.3 | 5.35 | Dup 16q24.1‐16q24.3 | Covered by AT | NA | NA |
| Del Xp22.33‐Xp22.31 | 3.80 | Del Xp22.33‐Xp22.31 | 83% covered by AT (3.6 Mb) | NA | ||||
| EB13EX00305 | Female | 20 + 2 | Dup 2p21‐2p21 | 0.80 | Dup 2p21‐2p16.3 | Covered the AT | NA | NA |
| Dup Xp22.13‐Xp22.12 | 0.80 | Dup Xp22.13‐Xp22.12 | Covered the AT | NA | ||||
| EC13CD00028 | Female | 19 + 3 | Del Xp22.33‐Xp11.1 | 58.05 | Del Xp22.33‐Xq11.2 | Covered the AT | NA | Multiple diseasesb |
| EC13EX01294 | Male | 13 + 5 | Dup 11q14.3‐11q25 | 43.25 | Dup 11q14.3‐11q25 | 98% Covered by AT (41.20 Mb) | 15.91% | NA |
| EC13BK00006 | Male | 21 + 3 | Dup 12p13.33‐12p11.1 | 34.75 | Dup 12p13.33‐12p11.21 | Covered by AT | 5.19% | NA |
| EC17QD00108 | Male | 17 + 2 | arr 5p15.33p13.2 (113576–34046734)×1 | 33.93 | Del 5p15.33‐5p13.3 | Covered by the AT | 8.93% | Cri‐du‐chat syndrome |
| EC176L00184 | Female | 13 + 2 | arr 18q22.1q23 (63578361–78013728)×1 | 14.44 | Del 18q22.1‐18q23 | Covered by the AT | NA | NA |
| EC13HB00814 | Female | 12 + 1 | arr 5p15.33p15.2 (3222579–10164617)×1 | 6.95 | Del 5p15.33‐5p15.2 | Covered by the AT | NA | Cri‐du‐chat syndrome |
| EC16BE00322 | Male | 17 + 3 | arr 15q11.2q13.1 (23290787–28526905)×3 | 5.24 | Dup 15q11.2‐15q13.1 | 96% Covered by AT (4.90 Mb) | 5.12% | 15q11‐q13 duplication syndromes |
| EC13HB01069 | Male | 18 | Dup 22q11.21‐22q11.21 | 2.60 | Dup 22q11.21‐22q11.22 | 73% covered by AT (2.35 Mb) | 8.05% | 22q11duplication syndrome |
| EC13JD00020 | Male | 21 | Dup 3q26.1‐3q26.1 | 2.55 | Dup 3q26.1‐3q26.1 | Covered the AT | 16.02% | NA |
| EC13HB01084 | Male | 16 + 3 | Dup 22q11.21‐22q11.21 | 2.48 | Dup 22q11.21‐22q11.21 | Covered the AT | 14.38% | 22q11 duplication syndrome |
| EC13AN00018 | Female | 26 + 3 | Del 22q11.21‐22q11.23 | 2.35 | Del 22q11.21‐22q11.23 | Covered the AT | NA | 22q11.2 distal deletion syndrome |
| EC13HB01354 | Male | 15 + 2 | Del 1q21.1‐1q21.2 | 1.80 | Del 1q21.1‐1q21.2 | 51% covered by AT (0.90 Mb) | 12.34% | 1q21.1 microdeletion syndrome |
| EC17HB42450 | Male | 24 + 6 | arr 22q13.31q13.32 (47978041–49100597)×1 | 1.12 | Del 22q13.31‐22q13.33 | Covered the AT | 9.88% | NA |
| EC178L04039 | Male | 20 | Del 15q11.2‐15q11.2 | 0.36 | Del 15q11.1‐15q11.2 | Covered the AT | 8.89% | Prader‐Willi/Angelman syndrome |
GW, gestation weeks; FF, fetal fraction estimated with reads mapped chromosome Y.
a
Data from OMIM database (https://omim.org/) or DECIPHER database (https://decipher.sanger.ac.uk/); NA, not applicable.
b
Multiple diseases including Leri‐Weill dyschondrostosis (LWD) ‐ SHOX deletion, Steroid sulphatase deficiency (STS).