Test Content

✔ Detect chromosomal disorders across 23 pairs of chromosomes.
✔ Data size of each sample reaches 25M,further increase the detection rate of microdeletions/microduplications.

  • NIFTY PRO Reassures You

Being pregnant is something each and every woman would be extremely excited for. Aside from being excited you may also want to ensure the healthiness of your baby. All mothers should go through prenatal tests to ensure that the baby has not inherited genetic disease. NIFTY Pro test technology can accurately test the risk of your baby having down syndrome and other chromosomal disorders using peripheral blood of the mother.

Due to technological restriction, listed below are women who cannot perform this test:

  1.  Multiple pregnancy (even fetal reduction occurs at later stage).
  2. Twin pregnancy undergone fetal reduction after 8 weeks of gestation.
  3. Has undergone fetal reduction within the past 8 weeks.
  4. Pregnant women or her spouse with chromosomal disorders.
  5.  Pregnancy with placental mosaicisms.
  6. Pregnant woman with Robertsonian translocatian fetus.
  7. Pregnancy less than 10 weeks.

Please contact you doctor if you have conditions listed as below:

  1. The receival of allogenic blood transfusion within one year.
  2.  The receival of transplant surgery or stem cell therapy.
  3. The receival of cellular immunotherapy where exogenous DNA is introduced within 4 weeks.
  4. The abnormal paternal karyotype, maternal abnormal karyotype with qh+/-, ps+/-, pstk+/-, pss.
  5. Pregnant woman with BMI>40.
  6. Being aected or had history of malignant tumor or benign tumor.
  7. The receival of heparin therapy or heparin analogue therapy.
  • Test Content
Chromosome Abnormality Incidence Clinical Features Accuracy Rate
NIFTY BASIC Trisomies: NIFTY PRO
Down Syndrome Trisomy 21 Risk will increase as the age of woman increases (Age 35: 1/400) It is a condition caused by an extra copy of chromosome 21. Miscarriage occurs in about 30% of pregnancies with Down Syndrome. Those children born with Down Syndrome will need extra medical care depending on the child’s specific health problems. Most children with Down Syndrome have intellectual disabilities that range from mild to moderate. Early intervention has proven to be essential in enabling individuals with Down Syndrome to lead healthy and productive lives. Sensitivity: >99.99%[1] Specificity: >99.97%[1]
Edwards Syndrome Trisomy 18 (1/6,000） It is caused when a baby has three copies of chromosome 18. Pregnancies with Edwards Syndrome are at high risk of miscarriage and most babies born with Edwards Syndrome die within the first few weeks of life while less than 10% live beyond one year. Infants with Edwards Syndrome have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys, and external abnormalities such as cleft lip/palate, small head, club feet, underdeveloped digits, and small jaw. Sensitivity: >99.99%[1] Specificity: >99.97%[1]
Patau Syndrome Trisomy 13 (1/10,000~1/21,700) It is caused when a baby has three copies of chromosome 13. Pregnancies diagnosed with Patau Syndrome are at high risk for miscarriage or stillbirth, and most babies born with Patau Syndrome will not survive beyond the first weeks of life. Babies with Patau Syndrome may have heart defects, brain or spinal cord problems, extra fingers and/or toes, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), and weak muscle tone. Many babies have birth defects of other organs as well. Sensitivity: >99.99%[2] Specificity: >99.96%[2]
Rare Autosomal Aneuploidies(only for singleton pregnancy):
Trisomy 9 unknown Trisomy 9 is a rare chromosomal condition. Full trisomy 9 is a lethal chromosomal disorder resulting in miscarriage in the first trimester. Rare survivors usually cannot live more than a week after birth. Mosaic Trisomy 9 is the condition that the fetus carries two entire chromosomes 9 plus part of a third copy. The Symptoms include developmental delay, dysmorphisms in the heart system, nervous systemm and skull. Rare Sample Sensitivity rate not yet validated
Trisomy 16 32/100,000 Trisomy 16 is a rare chromosomal condition. Full trisomy 16 is a lethal chromosomal disorder resulting in miscarriage in the first trimester. Mosaic Trisomy 16 is the condition that the fetus carries two entire chromosomes 16 plus part of a third copy. The rare survivors are at increased risk for delayed growth and cognitive disorder. Rare Sample Sensitivity rate not yet validated
Trisomy 22 9/1000,000~ 20/100,000 Trisomy 22 is a rare chromosomal condition. Full trisomy 22 is a lethal chromosomal disorder resulting in miscarriage in the first trimester. The majority of live births will die during early postnatal period. Mosaic Trisomy 22 is the condition that the fetus carries two entire chromosomes 22 plus part of a third copy. Affected individual usually experiences intellectual disability, kidney malformation and imbalanced development. Rare Sample Sensitivity rate not yet validated
NIFTY BASIC Sex Chromosome Aneuploidies (only for singleton pregnancy):
45, X (XO) Turner Syndrome 1/2,000~1/5,000 It is caused by a completely or partially missing X sex chromosome in females. Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Two that occur in almost all cases of Turner syndrome are: being shorter than average. underdeveloped ovaries (female reproductive organs), resulting in a lack of monthly periods and infertility. Sensitivity: >95%
XXY Klinefelter Syndrome 1/500 It is a genetic condition that only aects males. Aected males have an extra X chromosome. Males with Klinefelter’s syndrome have small testes which do not produce enough of the male hormone testosterone before birth and during puberty. This lack of testosterone means that during puberty, the normal male sexual characteristics do not develop fully. There is reduced facial and pubic hair, and some breast tissue often develops. The lack of testosterone is also responsible for other symptoms, including infertility. Sensitivity: >95%
XXX Triple X Syndrome 1/1,000 It is characterized by the presence of an additional X chromosome in each of a female’s cells. The symptoms and physical features associated with trisomy X vary greatly from one person to another. Some females may have no symptoms (asymptomatic) or very mild symptoms and may go undiagnosed. Other women may have a wide variety of dierent abnormalities. Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such an sitting and walking). weak muscle tone (hypotonia). and behavioral and emotional diculties are also possible, but these characteristics vary widely among aected girls and women. Seizures or kidney abnormalities occur in about 10 percent of aected females. Sensitivity: >95%
XYY XYY Syndrome 1/1,000 It aects only males and is caused by the presence of an extra Y chromosome. Aected individuals are usually very tall. Many experience severe acne during adolescence. Additional symptoms may include learning disabilities and behavioral problems such as impulsivity Sensitivity: >95%
Gender Inentification NA The singleton gender identification sensitivity rate. ＞99%

Condition List for Micro-deletion & Micro-duplication Syndromes

1
Chromosome 1p31 duplication syndrome
43
Jacobsen syndrome
2
Chromosome 1p32-p31 deletion syndrome
44
Chromosome 12q14 microdeletion syndrome
3
Chromosome 1p36 deletion syndrome
45
Chromosome 13q14 deletion syndrome
4
Chromosome 1q41-q42 deletion syndrome
46
Chromosome 14q11-q22 deletion syndrome
5
Chromosome 2p12-p11.2 deletion syndrome
47
Frias syndrome
6
Chromosome 2p16.1-p15 deletion syndrome
48
Chromosome 15q11-q13 duplication syndrome
7
Split-hand/foot malformation5
49
Angelman syndrome
8
Chromosome 2q31.1 duplication syndrome
50
Prader-Willi syndrome
9
Chromosome 2q31.1 deletion syndrome
51
Chromosome 15q14 deletion syndrome
10
Chromosome 2q35 duplication syndrome
52
Chromosome 15q25 deletion syndrome
11
Holoprosenc ephaly 6
53
Congenital Diaphragmatic Hernia, CDH
12
Chromosome 3pter-p25 deletion syndrome
54
Chromosome 15q26-qter deletion syndrome
13
Chromosome 3q13.31 deletion syndrome
55
Levy-Shanske syndrome
14
dandy-walker syndrome
56
Chromosome 16p deletion syndrome
15
Chromosome 3q29 deletion syndrome
57
Chromosome 16p11.2-p12.2 microduplication syndrome
16
Chromosome 3q29 duplication syndrome
58
Chromosome 16p12.2-p11.2 deletion syndrome
17
Wolf-Hir schhorn syndrome
59
Chromosome 16p13.3 deletion syndrome
18
Chromosome 4q21 deletion syndrome
60
Chromosome 16q22 deletion syndrome
19
Chromosome 4q32.1-q32.2 triplication syndrome
61
Potocki-Lupski syndrome
20
Cridu Chat syndrome
62
Smith-Magenis syndrome
21
Chromosome 5q12 deletion syndrome
63
Yuan-Harel-Lupski syndrome
22
Chromosome 5q14.3 deletion syndrome
64
Chromosome 17p13.3 duplication syndrome
23
Chromosome 6pter-p24 deletion syndrome
65
Chromosome 17p13.3 deletion syndrome
24
Chromosome 6q11-q14 deletion syndrome
66
Chromosome 17q12 deletion syndrome
25
Chromosome 6q24-q25 deletion syndrome
67
Chromosome 17q12 duplication syndrome
26
CHDM
68
Chromosome 17q21.31 duplication syndrome
27
Chromosome 7q deletion syndrome
69
Chromosome 17q23.1-q23.2 deletion syndrome
28
Chromosome 7q11.23 deletion syndrome
70
Chromosome 18p deletion syndrome
29
Chromosome 7q11.23 duplication syndrome
71
Chromosome 18q deletion syndrome
30
Chromosome 8p23.1 deletion syndrome
72
Chromosome 19q13.11 deletion syndrome
31
Chromosome 8p23.1 duplication syndrome
73
Holoprosencephaly 1
32
Chromosome 8q12.1-q21.2 deletion syndrome
74
Cat-Eye syndrome
33
Chromosome 8q22.1 duplication syndrome
75
Chromosome 22q11.2 deletion syndrome
34
Chromosome 8q22.1 deletion syndrome
76
Chromosome 22q11.2 duplication syndrome
35
Langer-Giedion syndrome
77
DiGeorge syndrome
36
Chromosome 9p deletion syndrome
78
Chromosome Xp11.23-p11.22 duplication syndrome
37
Digeorge syndrome 2
79
Chromosome Xp11.3 deletion syndrome
38
Chromosome 10q22.3-q23.2 deletion syndrome
80
Chromosome Xp21 deletion syndrome
39
Chromosome 10q26 deletion syndrome
81
Chromosome Xq21 deletion syndrome
40
Potocki-Shaer syndrome
82
Chromosome Xq22.3 telomeric deletion syndrome
41
WAGR syndrome
83
Chromosome Xq27.3-q28 duplication syndrome
42
WAGRO syndrome
84
Chromosome Xq28 deletion syndrome

Condition List for

Micro-deletion &

Micro-duplication Syndromes

1
Chromosome 1p31 duplication syndrome
43
Jacobsen syndrome
2
Chromosome 1p32-p31 deletion syndrome
44
Chromosome 12q14 microdeletion syndrome
3
Chromosome 1p36 deletion syndrome
45
Chromosome 13q14 deletion syndrome
4
Chromosome 1q41-q42 deletion syndrome
46
Chromosome 14q11-q22 deletion syndrome
5
Chromosome 2p12-p11.2 deletion syndrome
47
Frias syndrome
6
Chromosome 2p16.1-p15 deletion syndrome
48
Chromosome 15q11-q13 duplication syndrome
7
Split-hand/foot malformation5
49
Angelman syndrome
8
Chromosome 2q31.1 duplication syndrome
50
Prader-Willi syndrome
9
Chromosome 2q31.1 deletion syndrome
51
Chromosome 15q14 deletion syndrome
10
Chromosome 2q35 duplication syndrome
52
Chromosome 15q25 deletion syndrome
11
Holoprosenc ephaly 6
53
Congenital Diaphragmatic Hernia, CDH
12
Chromosome 3pter-p25 deletion syndrome
54
Chromosome 15q26-qter deletion syndrome
13
Chromosome 3q13.31 deletion syndrome
55
Levy-Shanske syndrome
14
dandy-walker syndrome
56
Chromosome 16p deletion syndrome
15
Chromosome 3q29 deletion syndrome
57
Chromosome 16p11.2-p12.2 microduplication syndrome
16
Chromosome 3q29 duplication syndrome
58
Chromosome 16p12.2-p11.2 deletion syndrome
17
Wolf-Hir schhorn syndrome
59
Chromosome 16p13.3 deletion syndrome
18
Chromosome 4q21 deletion syndrome
60
Chromosome 16q22 deletion syndrome
19
Chromosome 4q32.1-q32.2 triplication syndrome
61
Potocki-Lupski syndrome
20
Cridu Chat syndrome
62
Smith-Magenis syndrome
21
Chromosome 5q12 deletion syndrome
63
Yuan-Harel-Lupski syndrome
22
Chromosome 5q14.3 deletion syndrome
64
Chromosome 17p13.3 duplication syndrome
23
Chromosome 6pter-p24 deletion syndrome
65
Chromosome 17p13.3 deletion syndrome
24
Chromosome 6q11-q14 deletion syndrome
66
Chromosome 17q12 deletion syndrome
25
Chromosome 6q24-q25 deletion syndrome
67
Chromosome 17q12 duplication syndrome
26
CHDM
68
Chromosome 17q21.31 duplication syndrome
27
Chromosome 7q deletion syndrome
69
Chromosome 17q23.1-q23.2 deletion syndrome
28
Chromosome 7q11.23 deletion syndrome
70
Chromosome 18p deletion syndrome
29
Chromosome 7q11.23 duplication syndrome
71
Chromosome 18q deletion syndrome
30
Chromosome 8p23.1 deletion syndrome
72
Chromosome 19q13.11 deletion syndrome
31
Chromosome 8p23.1 duplication syndrome
73
Holoprosencephaly 1
32
Chromosome 8q12.1-q21.2 deletion syndrome
74
Cat-Eye syndrome
33
Chromosome 8q22.1 duplication syndrome
75
Chromosome 22q11.2 deletion syndrome
34
Chromosome 8q22.1 deletion syndrome
76
Chromosome 22q11.2 duplication syndrome
35
Langer-Giedion syndrome
77
DiGeorge syndrome
36
Chromosome 9p deletion syndrome
78
Chromosome Xp11.23-p11.22 duplication syndrome
37
Digeorge syndrome 2
79
Chromosome Xp11.3 deletion syndrome
38
Chromosome 10q22.3-q23.2 deletion syndrome
80
Chromosome Xp21 deletion syndrome
39
Chromosome 10q26 deletion syndrome
81
Chromosome Xq21 deletion syndrome
40
Potocki-Shaer syndrome
82
Chromosome Xq22.3 telomeric deletion syndrome
41
WAGR syndrome
83
Chromosome Xq27.3-q28 duplication syndrome
42
WAGRO syndrome
84
Chromosome Xq28 deletion syndrome
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