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 92 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
| BỘ NIFTY PRO PHÁT HIỆN 92 HỘI CHỨNG MICRODELETION/ DUPLICATION |
|---|
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Chromosome 1p36 deletion syndrome |
Chromosome 10q26 deletion syndrome |
|
Chromosome 1q41-q42 deletion syndrome |
Chromosome 10p12-p11 deletion syndrome |
|
Chromosome 1p32-p31 deletion syndrome |
Chromosome 10p duplication |
|
Chromosome 2p16.1-p15 deletion syndrome |
Chromosome 11p13 deletion syndrome |
|
Chromosome 2q33.1 deletion syndrome |
Chromosome 11p11.2 deletion syndrome |
|
Chromosome 2q31.1 duplication syndrome |
Jacobsen syndrome |
|
Chromosome 2q37 deletion syndrome |
Chromosome 11q23 deletion syndrome |
|
Chromosome 2q31.1 microdeletion syndrome |
Chromosome 12q14 microdeletion syndrome |
|
Chromosome 2q duplication |
Chromosome 12p12.1 microdeletion syndrome |
|
Chromosome 3pter-p25 deletion syndrome |
Chromosome 12p duplication |
|
Dandy-Walker syndrome |
Chromosome 13q14 deletion syndrome |
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Chromosome 3q13.31 deletion syndrome |
Distal chromosome 13q deletion |
|
Distal chromosome 3p duplication |
Chromosome 14q11-q22 deletion syndrome |
|
Chromosome 3q duplication |
Chromosome 14q22 deletion syndrome |
|
Chromosome 4p16.3 deletion syndrome |
Proximal chromosome 14q deletion |
|
Chromosome 4q21 deletion syndrome |
Chromosome 14q duplication |
|
Chromosome 4p duplication |
Prader-Willi syndrome |
|
Distal chromosome 4q duplication |
Angelman syndrome |
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Distal chromosome 4q deletion |
Chromosome 15q26-qter deletion syndrome |
|
Cri-du-Chat syndrome |
Levy-Shanske syndrome |
|
Chromosome 5q14.3 deletion syndrome |
Chromosome 15q14 deletion syndrome |
|
Chromosome 5q12 deletion syndrome |
Chromosome 15q24 microdeletion syndrome |
|
Chromosome 5p13 duplication syndrome |
Chromosome 15q26 overgrowth syndrome |
|
Chromosome 5p duplication |
Distal chromosome 15q deletion |
|
Chromosome 6pter-p24 deletion syndrome |
Chromosome 16p12.2-p11.2 deletion syndrome |
|
Chromosome 6q24-q25 deletion syndrome |
Chromosome 16p12.2-p11.2 duplication syndrome |
|
Chromosome 6q11-q14 deletion syndrome |
Chromosome 16p13.3 deletion syndrome |
|
Chromosome 6p deletion |
Chromosome 16p13.3 duplication syndrome |
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Chromosome 6q15-q23 deletion syndrome |
Proximal chromosome 16q duplication |
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Chromosome 6q25-qter deletion syndrome |
Smith-Magenis syndrome |
|
Chromosome 6q26-q27 deletion syndrome |
Chromosome 17p13.3 deletion syndrome |
|
Chromosome 7q deletion |
Potocki-Lupski syndrome |
|
Chromosome 7q11.23 deletion syndrome |
Chromosome 17p13.3 duplication syndrome |
|
Chromosome 7q21-q32 deletion |
Yuan-Harel-Lupski syndrome |
|
Chromosome 7q31-q32 deletion |
Chromosome 17p duplication |
|
Chromosome 8p23.1 deletion syndrome |
Chromosome 18p deletion syndrome |
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Chromosome 8p23.1 duplication syndrome |
Distal chromosome 18q deletion syndrome |
|
Langer-Giedion syndrome |
Alagille syndrome 1 |
|
Chromosome 8q22.1 deletion syndrome |
Chromosome 20p duplication |
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Chromosome 8q22.1 duplication syndrome |
Chromosome 21q22 deletion |
|
Chromosome 8p duplication |
Chromosome 22q11.2 deletion syndrome |
|
Chromosome 8q duplication |
Chromosome Xp11.23-p11.22 duplication syndrome |
|
Chromosome 9p deletion syndrome |
Chromosome Xp21 deletion syndrome |
|
Chromosome 9p duplication |
Chromosome Xq27.3-q28 duplication syndrome |
|
DiGeorge syndrome 2 |
Chromosome Xq21 deletion syndrome |
|
Chromosome 10q22.3-q23.2 deletion syndrome |
Chromosome Xq22.3 deletion syndrome |
