胎兒單基因遺傳病的
非侵入性產前篩查檢測

全球超過 13,700,000 檢測量實證。
港澳父母安心之選。

胎兒單基因遺傳病的
非侵入性產前篩查檢測

全球超過 13,700,000
檢測量實證。港澳父母安心之選。

NIFTY® mono 是一種針對胎兒單基因遺傳病的非侵入性產前篩查檢測。篩查胎兒中患有遺傳性疾病的風險，這些傳統產前篩查較難檢測到的，透過我們的檢測可以更全面地了解懷孕時胎兒有遺傳性疾病的相關風險。

技術：捕獲目標UMI及新一代測序

適用人群：

1. 所有懷孕10-24週的孕婦（包括IVF孕）

2. 超聲波檢查異常，如長骨縮短、NT增⼤，懷疑冇單基因疾病

3. 已知/已篩查到高遺傳病風險

4. ⽗親年齡⾼

  • 為何選擇 NIFTY® mono?

1. 超聲波檢查結果不完全可靠。

2. 家族史通常不是一個好的概率指標，因為這些情況通常是由新的突變引起。

3. NIFTY® mono檢測到的條件的累積發生率為1/1,500。

4. 篩選的條件包括那些與高齡父親（>40 歲的男性）相關，並且與母親年齡無關的條件。

  • NIFTY® mono 篩查項目

篩查202種疾病，包括由單基因變異引起的骨骼、心臟和綜合症。

篩查項目

篩查202種疾病，包括由單基因變異引起的骨骼、心臟和綜合症。

  • NIFTY® mono 檢測內容- 疾病列表
  • NIFTY® mono 篩查項目
No.基因 Gene疾病 Condition
1ACTBBaraitser-Winter syndrome 1
2ACTG1Baraitser-Winter syndrome 2
3ACTG2Visceral myopathy 1
4ACVR1Fibrodysplasia Ossificans Progressiva
5ADNPAutosomal Dominant Mental Retardation 28
6AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
7ANKRD11KBG Syndrome
8ARID1AAutosomal Dominant Mental Retardation 14
9ARID1BCoffin-Siris syndrome 1
10ASXL1Bohring-Opitz Syndrome
11ASXL3Bainbridge-Ropers Syndrome
12ATP1A2Alternating Hemiplegia of Childhood 1
13ATP1A2Developmental and epileptic encephalopathy 98
14ATP1A3Developmental and epileptic encephalopathy 99
15BCL11ADias-Logan syndrome
16BICD2Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
17BRAFNoonan Syndrome 7
18BRAFCardiofaciocutaneous Syndrome
19BRAFLEOPARD syndrome 3
20CACNA1ADevelopmental and epileptic encephalopathy 42
21CAMTA1Cerebellar dysfunction with variable cognitive and behavioral abnormalities
22CASKIntellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
23CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
24CDKL5Developmental and epileptic encephalopathy 2
25CHD2Developmental and epileptic encephalopathy 94
26CHD7CHARGE syndrome
27CHD8Intellectual developmental disorder with autism and macrocephaly
28COL11A1Stickler syndrome, type II
29COL1A1Osteogenesis Imperfecta type I
30COL1A1/COL1A2Osteogenesis Imperfecta type II
31COL1A1/COL1A2Osteogenesis Imperfecta type III
32COL1A1/COL1A2Osteogenesis Imperfecta type IV
33COL2A1Stickler syndrome, type I
34COL2A1Platyspondylic Lethal Skeletal dysplasia, Torrance type
35COL2A1Achondrogenesis, type II or hypochondrogenesis
36COL2A1SED congenita
37COL4A1Porencephaly 1
38COL9A2Epiphyseal dysplasia, multiple, 2
39COL9A3Epiphyseal dysplasia, multiple, 3, with or without myopathy
40COMPPseudoachondroplasia
41COMPEpiphyseal dysplasia, multiple, 1
42CREBBPRubinstein-Taybi Syndrome 1
43CREBBPMenke-Hennekam syndrome 1
44CTCFIntellectual developmental disorder, autosomal dominant 21
45CTNNB1Neurodevelopmental disorder with spastic diplegia and visual defects
46DNM1Developmental and epileptic encephalopathy 31
47DYNC1H1Intellectual developmental disorder, autosomal dominant 13
48DYRK1AIntellectual developmental disorder, autosomal dominant 7
49EBPChondrodysplasia punctata, X-linked dominant
50EFNB1Craniofrontonasal dysplasia
51EFTUD2Mandibulofacial dysostosis, Guion-Almeida type
52EHMT1Kleefstra Syndrome 1
53EP300Rubinstein-Taybi Syndrome 2
54EP300Menke-Hennekam syndrome 2
55ERFCraniosynostosis 4
56ERFChitayat syndrome
57FBN1Marfan Syndrome
58FGFR1/FGFR2Jackson-Weiss Syndrome
59FGFR1Trigonocephaly 1
60FGFR1/FGFR2Pfeiffer syndrome
61FGFR2Saethre-Chotzen Syndrome
62FGFR2Bent Bone Dysplasia Syndrome
63FGFR2Beare-Stevenson Cutis Gyrata syndrome
64FGFR2Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
65FGFR2Crouzon syndrome
66FGFR2Apert syndrome
67FGFR3Thanatophoric Dysplasia, type II
68FGFR3SADDAN
69FGFR3Muenke Syndrome
70FGFR3Crouzon syndrome with acanthosis nigricans
71FGFR3Thanatophoric Dysplasia, type I
72FGFR3Hypochondroplasia
73FGFR3Achondroplasia
74FLNAOtopalatodigital syndrome, type II
75FLNBAtelosteogenesis, type I
76FLNBLarsen Syndrome
77FLNBAtelosteogenesis, type III
78FLNBBoomerang dysplasia
79FOXG1Rett syndrome, congenital variant
80FOXP1Intellectual developmental disorder with language impairment with or without autistic features
81FREM1Trigonocephaly 2
82GABRA1Developmental and epileptic encephalopathy 19
83GABRB2Developmental and epileptic encephalopathy 92
84GATAD2BGAND syndrome
85GFAPAlexander Disease
86GNAO1Developmental and epileptic encephalopathy 17
87GNAO1Neurodevelopmental disorder with involuntary movements
88GRIN1Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
89GRIN2BDevelopmental and epileptic encephalopathy 27
90GRIN2BIntellectual developmental disorder, autosomal dominant 6, with or without seizures
91HDAC8Cornelia de Lange syndrome 5
92HNRNPKAu-Kline Syndrome
93HNRNPUDevelopmental and epileptic encephalopathy 54
94HRASCostello Syndrome
95IFITM5Osteogenesis imperfecta, type V
96JAG1Alagille Syndrome 1
97KANSL1Koolen-De Vries Syndrome
98KAT6BSBBYSS syndrome
99KAT6BGenitopatellar syndrome
100KCNB1Developmental and epileptic encephalopathy 26
101KCNJ2Andersen syndrome
102KCNQ2Developmental and epileptic encephalopathy 7
103KCNT1Developmental and epileptic encephalopathy 14
104KIF1ANESCAV syndrome
105KMT2AWiedemann-Steiner syndrome
106KMT2DKabuki Syndrome 1
107KRASCardiofaciocutaneous Syndrome 2
108KRASNoonan Syndrome 3
109LMNAMuscular dystrophy, congenital
110LMNAHutchinson-Gilford Progeria Syndrome
111LZTR1Noonan Syndrome 10
112MAP2K1Cardiofaciocutaneous Syndrome 3
113MAP2K2Cardiofaciocutaneous Syndrome 4
114MECP2Rett syndrome
115MED13LImpaired intellectual development and distinctive facial features with or without cardiac defects
116MEF2CNeurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
117MSX2Craniosynostosis 2
118MSX2Parietal Foramina With Cleidocranial Dysplasia
119NALCNCongenital Contractures Of The Limbs And Face, Hypotonia, And Developmental delay
120NF1Neurofibromatosis 1
121NF2Neurofibromatosis 2
122NFIXMarshall-Smith Syndrome
123NIPBLCornelia de Lange syndrome 1
124NOTCH2Hajdu-Cheney Syndrome
125NOTCH2Alagille Syndrome 2
126NR2F1Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
127NRASNoonan syndrome 6
128NSD1Sotos Syndrome 1
129NSDHLCHILD syndrome
130PACS1Schuurs-Hoeijmakers syndrome
131PIK3CAOvergrowth syndrome and/or cerebral malformations
132PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
133PPP2R1AIntellectual developmental disorder, autosomal dominant 36
134PPP2R5DIntellectual developmental disorder, autosomal dominant 35
135PRKAR1AAcrodysostosis 1, with or without Hormone Resistance
136PTPN11Noonan Syndrome 1
137PURANeurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
138RAD21Cornelia de Lange syndrome 4
139RAF1Noonan Syndrome 5
140RERENeurodevelopmental disorder with or without anomalies of the brain, eye, or heart
141RIT1Noonan Syndrome 8
142RPS6KA3Coffin-Lowry Syndrome
143RUNX2Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly
144RUNX2Cleidocranial dysplasia
145SATB2Glass Syndrome
146SCN1AEarly Infantile Epileptic Encephalopathy 6
147SCN1ADevelopmental and epileptic encephalopathy 6B, non-Dravet
148SCN2ADevelopmental and epileptic encephalopathy 11
149SCN2AEpisodic ataxia, type 9
150SCN8ADevelopmental and epileptic encephalopathy 13
151SCN8ACognitive Impairment With Or Without Cerebellar Ataxia
152SETBP1Schinzel-Giedion syndrome
153SETBP1Intellectual developmental disorder, autosomal dominant 29
154SETD2Luscan-Lumish Syndrome
155SETD5Intellectual developmental disorder, autosomal dominant 23
156SHANK3Phelan-McDermid Syndrome
157SHOC2Noonan-Like Syndrome with Loose Anagen Hair
158SKIShprintzen-Goldberg Syndrome
159SLC25A24Fontaine Progeroid Syndrome
160SMAD3Loeys-Dietz syndrome 3
161SMAD4Myhre Syndrome
162SMARCA2Nicolaides-Baraitser Syndrome
163SMARCA2Blepharophimosis-impaired intellectual development syndrome
164SMARCA4Autosomal Dominant Mental Retardation 16
165SMARCB1Autosomal Dominant Mental Retardation 15
166SMARCE1Coffin-Siris Syndrome 5
167SMC1ACornelia de Lange syndrome 2
168SMC3Cornelia de Lange syndrome 3
169SOS1Noonan Syndrome 4
170SOS2Noonan Syndrome 9
171SOX9Campomelic Dysplasia
172SPECC1LOpitz GBBB Syndrome, Type II
173SPTAN1Developmental and epileptic encephalopathy 5
174SRCAPFloating-Harbor Syndrome
175SRCAPDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
176STAT3Hyper-IgE recurrent infection syndrome
177STXBP1Developmental and epileptic encephalopathy 4
178SYNGAP1Intellectual developmental disorder, autosomal dominant 5
179TBL1XR1Pierpont Syndrome
180TBL1XR1Intellectual developmental disorder, autosomal dominant 41
181TBX5Holt-Oram Syndrome
182TCF4Pitt-Hopkins syndrome
183TGFB2Loeys-Dietz syndrome 4
184TGFBR1Loeys-Dietz syndrome 1
185TGFBR2Loeys-Dietz syndrome 2
186TRAF7Cardiac, Facial, and Digital Anomalies with Developmental Delay
187TRPS1Trichorhinophalangeal syndrome, type I
188TSC1Tuberous Sclerosis-1
189TSC2Tuberous sclerosis-2
190TUBA1ALissencephaly 3
191TUBBSymmetric circumferential skin creases, congenital, 1
192TUBBCortical Dysplasia, Complex, with Other Brain Malformations 6
193TUBB2ACortical Dysplasia, Complex, with Other Brain Malformations 5
194TUBB4ALeukodystrophy, hypomyelinating, 6
195TWIST1Saethre-Chotzen syndrome with or without eyelid anomalies
196TWIST1Craniosynostosis 1
197TWIST1Sweeney-Cox syndrome
198TWIST1Robinow-Sorauf Syndrome
199WDR45Neurodegeneration with brain iron accumulation 5
200ZBTB20Primrose syndrome
201ZC4H2Wieacker-Wolff syndrome, female-restricted
202ZEB2Mowat-Wilson syndrome
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