Table 1 Summary of test results of NIPT and aCGH in this two cases
Case | NIPT | CMA | |||||
|---|---|---|---|---|---|---|---|
cffDNA | CNV | z-score | Reads | sample of fetus | Peripheral blood of mother | Peripheral blood of father | |
Case 1 | 19.70% | 1.1 Mb deletion at 21q21.1 | -10.76 | 4.29 Mb | arr[hg19] 15q13.3(32021609-32444043)×1 | arr[hg19] 21q21.1(19731098-20834451)×1 | arr[hg19] 15q13.3(32021609-32444043)×1 |
Case 2 | 14.70% | 1.5 Mb deletion at 22q11.21 | -6.71 | 5.93 Mb | arr[hg19] 22q11.21(18935464-20312661)×3 | arr[hg19] 22q11.21(20716876-21363447)×1 | arr[hg19] 22q11.21(18636749-21461017)×3 |