NIFTY Pro là xét nghiệm NIPT có thể khảo sát 10 loại lệch bội nhiễm sắc thể và 84 hội chứng microdeletion/duplication
NIFTY Pro đặc biệt hữu ích khi thai có nguy cơ bị dị tật bẩm sinh, chậm phát triển trong tử cung, gia đình có tiền sử bị hội chứng di truyền bẩm sinh trong danh sách 94 loại bất thường nhiễm sắc thể của NIFTY Pro.
Các lệch bội chính
Trisomy 21 (hội chứng Down)
Trisomy 18 (hội chứng Edwards)
Trisomy 13 (hội chứng Patau)
X (monosomy X, hội chứng Turner)
XXX (trisomy X, hội chứng triple X)
XXY (hội chứng Klinefelter)
XYY (hội chứng Jacob)
Các lệch bội gây sẩy thai phổ biến
Trisomy 9
Trisomy 16
Trisomy 22
Các hội chứng microdeletion/duplication
Phát hiện đến 84 hội chứng microdeletion/duplication (xem chi tiết bảng dưới đây)
| BỘ NIFTY PRO PHÁT HIỆN 84 HỘI CHỨNG MICRODELETION/ DUPLICATION (duy nhất trên thế giới) |
|||
|---|---|---|---|
| Vị trí NST | Hội chứng | Vị trí NST | Hội chứng |
| 7q | Chromosome 7q deletion | 16p13.3 | Chromosome 16p13.3 deletion syndrome |
| 18q | Chromosome 18q deletion syndrome | 16p12.2-p11.2 | Chromosome 16p11.2-p12.2 microduplication syndrome |
| 9p | Chromosome 9p deletion syndrome | 5q12 | Chromosome 5q12 deletion syndrome |
| 14q11-q22 | Chromosome 14q11-q22 deletion syndrome | 1p32-p31 | Chromosome 1p32-p31 deletion syndrome |
| 1p36 | Chromosome 1p36 deletion syndrome | 1p31.3 | Chromosome 1p31 duplication syndrome |
| 6q11-q14 | Chromosome 6q11-q14 deletion syndrome | 16q22 | Chromosome 16q22 deletion syndrome |
| 8q12.2-q21.2 | Chromosome 8q12.1-q21.2 deletion syndrome | 14q22.1-q22.3 | Frias syndrome |
| Xq21 | Chromosome Xq21 deletion syndrome | 15q11 | Chromosome 15q11-q13 duplication syndrome |
| 1q41-q42 | Chromosome 1q41-q42 deletion syndrome | 6q27 | CHDM (Chordoma) |
| 6q24-q25 | Chromosome 6q24-q25 deletion syndrome | 15q14 | Chromosome 15q14 deletion syndrome |
| 3q22-q24 | Dandy-Walker syndrome | 17q12 | Chromosome 17q12 duplication syndrome |
| 18p | Chromosome 18p deletion syndrome | 17q12 | Chromosome 17q12 deletion syndrome |
| 10q26 | Chromosome 10q26 deletion syndrome | 3q29 | Chromosome 3q29 duplication syndrome |
| 3pter-p25 | Chromosome 3pter-p25 deletion Syndrome | 3q29 | Chromosome 3q29 deletion syndrome |
| 2p12-p11.2 | Chromosome 2p12-p11.2 deletion syndrome | 8q22.1 | Chromosome 8q22.1 duplication syndrome |
| 5q14.3-q15 | Chromosome 5q14.3 deletion syndrome | 8q22.1 | Chromosome 8q22.1 deletion syndrome |
| 13q14 | Chromosome 13q14 deletion syndrome | 15q11.2 | Prader-Will syndrome |
| 10q23 | Chromosome 10q22.3-q23.2 deletion syndrome | 15q11.2 | Angelman syndrome |
| 15q26-qter | Levy-Shanske syndrome | 21q22.3 | Holoprosencephaly 1 |
| 15q26-qter | Chromosome 15q26-qter deletion syndrome | 11p13 | WAGR syndrome |
| 6pter-p24 | Chromosome 6pter-p24 deletion syndrome | 7q11.23 | Williams Beuren syndrome |
| 2q31 | Split-hand/foot malformation 5 | 7q11.23 | Chromosome 7q11.23 duplication syndrome |
| Xq27.3-q28 | Chromosome Xq27.3-q28 duplication syndrome | 11p11.2 | Potocki-Shaffer syndrome |
| 2q37.1-q37.3 | Holoprosencephaly 6 | 15q26.1 | Hernia Congenital Diaphragmatic (HCD) |
| Xp21 | Chromosome Xp21 deletion syndrome | Xq22.3 | Chromosome Xq22.3 telomeric deletion syndrome |
| 5p | Cri du Chat syndrom | 4p16.3 | Wolf-Hirschhorn syndrome |
| 11p13-p12 | WAGRO syndrome | 17q21.31 | Chromosome 17q21.31 duplication syndrome |
| 4q21 | Chromosome 4q21 deletion syndrome | Xp11.3 | Chromosome Xp11.3 deletion syndrome |
| 17p12-p11.2 | Yuan-Harel-Lupski syndrome | 3q13.31 | Chromosome 3q13.31 deletion syndrome |
| 22q11 | Cat-Eye syndrome | 8p23.1 | Chromosome 8p23.1 deletion syndrome |
| 11q23 | Jacobsen syndrome | 8p23.1 | Chromosome 8p23.1 duplication syndrome |
| 10p14-p13 | DiGeorge syndrome 2 | 12q14 | Chromosome 12q14 microdeletion syndrome |
| 8q24.11-q24.13 | Langer-Giedion syndrome | 17q23.1-q23.2 | Chromosome 17q23.1-q23.2 deletion syndrome |
| 2p16.1-p15 | Chromosome 2p16.1-p15 deletion syndrome | 17p11.2 | Potocki-Lupski syndrome |
| 4q32.1-q32.2 | Chromosome 4q32.1-q32.2 triplication syndrome | 17p11.2 | Smith-Magenis syndrome |
| 16p12.2-p11.2 | Chromosome 16p12.2-p11.2 deletion syndrome | 17p13.3 | Chromosome 17p13.3 duplication syndrome |
| Xp11.23-p11.22 | Chromosome Xp11.23-p11.22 duplication syndrome | 17p13.3 | Miller-Dieker syndrome |
| 2q31.1 | Chromosome 2q31.1 duplication syndrome | 19q13.11 | Chromosome 19q13.11 deletion syndrome |
| 2q33.1 | Chromosome 2q33.1 deletion syndrome | 2q34-q36 | Chromosome 2q35 duplication syndrome |
| Xq28 | Chromosome Xq28 deletion syndrome | 15q25 | Chromosome 15q25 deletion syndorme |
| 22q11.2 | Chromosome 22q11.2 duplication syndrome | 22q11.2 | Chromosome 22q11.2 deletion syndrome |
| 16pter-p13.3 | Chromosome 16p deletion syndrome | 22q11.21 | DiGeorge syndrome |
