基因診斷»PGD
技術介紹
PGD, 著床前基因診斷，是幫助帶有單一基因遺傳疾病的夫妻，避免生下具有相同遺傳性疾病小孩的技術，此技術涵蓋了試管嬰兒、胚胎切片及分子遺傳診斷。帶有顯性或隱性單一基因遺傳性疾病的夫妻，在孕育下一代，有二分之一，或四分之一的機率生下相同遺傳疾病的小孩，如地中海型貧血、脊髓性肌肉萎縮症、血友病及僵直性脊椎炎等等。為避免將此基因傳給下一代，可先採集家族血液檢體，經由分子遺傳實驗室確認其缺陷基因位點，設計客製化基因探針後，針對胚胎細胞進行診斷，進而將不帶遺傳疾病的胚胎植回母體內。
如何進行
- 請先於送子鳥生殖中心不孕專科醫師進行諮詢及檢查評估
- 由醫師和受檢者溝通 PGD 適應症，並簽署 PGD 同意書
- 受檢者提供家族遺傳病史表及所帶基因疾病的確診報告
- 受檢夫妻及其親屬進行血液採檢，檢體送至分子遺傳實驗室，進行探針設計(約11周工作天)
- 待探針製作完成後，受檢者經期第1至3天，於送子鳥生殖中心開始試管嬰兒療程，經期第3天開始施打排卵針
- 月經週期第8、10、12於送子鳥生殖中心追蹤卵泡發育狀況
- 約月經週期第14天進行取卵
- 於送子鳥生殖中心實驗室進行精卵受精、胚胎培養
- 約體外培養第5至6天形成囊胚期胚胎，於實驗室進行胚胎切片
- 切片後之囊胚進行玻璃化冷凍保存
- 切片之細胞送檢進行 PGD (約2週工作天)，挑選不帶基因疾病的胚胎進行植入
檢驗的限制
PGD 目的為挑選不帶已知基因疾病的胚胎進行植入，對於未檢測之突變基因、非家族性遺傳疾病、染色體微小片段缺失、染色體套數異常無法測出。進行 PGD 受孕後，仍應進行絨毛膜穿刺檢查或羊水穿刺檢查。
疾病項目參考
所有檢驗項目
| 名稱 | 英文名稱 | 縮寫 |
|---|---|---|
| 軟骨發育不全症 | Achondroplasia | FGFR3 |
| 僵直性脊椎炎 | Ankylosing spondylitis | HLA-B27 |
| Aarskog-Scott氏症候群 | Aarskog-Scott syndrome | FGD1 |
| Actin-Nemalin myopathy | ACTA1 | |
| Adenomatous polyposis Coli | FAP-APC | |
| 腎上腺腦白質失養症 | Adrenoleukodystrophy | ABCD1 |
| Agammaglobulinemia | BTK | |
| X-linked agammaglobulinemia (XLA) | BTK | |
| Bruton agammaglobulinemia | BTK | |
| Alagille syndrome | JAG1 | |
| Aldolase A deficiency (ALDOA) | ||
| Alpha thalassemia | HBA | |
| Alpha thalassemia/Mental retard (ATRX) | ||
| α1-抗胰蛋白酶缺乏症 | α1- Antitrypsin deficiency | AAT |
| Alport syndrome | COL4A5 | |
| Alzheimer disease | PSEN1 | |
| Congenital amegakaryocytic thrombocytopenia (CAMT) | ||
| Amyloidosis | TTR | |
| 肌萎縮性側索硬化症 | Amyotrophic lateral sclerosis (ALS) | SOD1 |
| 漸凍人 | Amyotrophic lateral sclerosis (ALS) | SOD1 |
| Hereditary Angioedema | C1NH | |
| Aniridia | PAX6 | |
| Antithrombin Deficiency | SERPINC1 | |
| 鎖骨顱骨發育異常 | Apert syndrome | FGFR2 |
| 共濟失調微血管擴張症候群 | Ataxia telangiectasia | ATM |
| Bardet-Biedl症候群 | Bardet-Biedl syndrome | BBS1, BBS10 |
| Barth Dilated Cardiomyopathy | TAZ | |
| Basal Cell Nevus Syndrome aka gorlin | PTCH | |
| Beta Thalassemia | HBB | |
| Bloom Syndrome | ||
| Birt-Hogge-Dube | FLCN | |
| Brachydactyly | GDF5 | |
| Brachydactyly - Hypertension Syndrome | HTNB | |
| A型血友病 | Hemophilia A | F8 |
| B型血友病 | Hemophilia B | F9 |
| Hereditary Breast and Ovarian Cancer | BRCA1, BRCA2 | |
| CADASIL - cerebral arteriopathy, AD, with subcortical infarcts & leukoencphalopathy | Notch3 | |
| Canavan Disease | ASPA | |
| Carnitine - AcylCarn Translocase | SLC25A20 | |
| CACH-Ataxia | EIF2B4 | |
| Cardiomyopathy, Barth Type Dilated | TZA | |
| Cardiomyopathy, Dilated Hypertrophic | MYH7 | |
| Ceroid-lipofuscinoses-Batton | PPT1 | |
| Ceroid-Lipofuscinoses-Finish Type | CLN5 | |
| Ceroid-Lipofuscinoses-Juvenile Type | CLN3 | |
| 進行性神經性腓骨萎縮症 | Charcot Marie Tooth Disease | PMP22, NEFL, GJB1 and MPZ |
| Cherubism | SH3BP2 | |
| Choroideremia | CHM | |
| 原發性慢性肉芽腫病 | Chronic primary granulomatous disease | CYBB |
| Ciliary Dyskinesia | DNAH5 | |
| 瓜胺酸血症 | Citrullinemia | ASS |
| DiGeorge’s症候群 | Cleidocranial dysplasia | RUNX2 |
| Cockayne氏症候群 | Cockayne syndrome | ERCC6 |
| 大腸癌 | Colon Cancer | HNPCC, MSH2 |
| Congenital Adrenal Hyperplasia | CYP21A2 | |
| Congenital Disorder of Glycosylation | CGD1 | |
| Congenital Icthyosis (Harlequin) | ABCA12 | |
| Cornelia de Lange Syndrome | NIPBL | |
| Cosman-Cyclic Neutropenia | ELA2 | |
| Crigler Najjar | UGT1A1 | |
| Crouzon氏症候群 | Crouzon syndrome | FGFR2 |
| 囊狀纖維化症 | Cystic fibrosis | CFTR |
| Cysteinyl Leukotriene Receptor 1 Deficiency | CYSLTR1 | |
| 胱胺酸症 | Cystinosis | CTNS |
| Darier氏症（毛囊角化病） | Darier’s disease | ATP2A2 |
| Deafness, Autosomal Recessive | GJB2 ,GJB6, DFBN1 | |
| Denys-Drash Syndrome | WT1 | |
| Desmin Storage Myopathy | DES | |
| Diamond Blackfan (DBA-RPS19) | DBA-RPS19 | |
| Diamond Blackfan (DBA2) Not RPS19 | DBA2 | |
| 裘馨氏肌肉失養症 | Duchenne muscular dystrophy | DMD |
| 先天性角化不全症 | Dyskeratosis Congenita | DKC1 |
| Dystonia | TOR1A | |
| Dystrophia Myotonica | DMPK, DM2, PROMN | |
| 外胚層增生不良症 | Ectodermal Dysplasias | EDA1, GJB6 |
| Ectrodactyly- Clefting Syndrome | TP63 | |
| 先天結締組織異常 | Ehlers Danlos syndrome | COL3A1 |
| Emery-Dreifuss Muscular Dystrophy | EMD, LMNA | |
| Epidermolysis Bullosa | KRT5, KRT14, LAMB3, ITGB4, COL7A1 | |
| 表皮鬆解角化過度症 | epidermolytic hyperkeratosis | KRT10 |
| 水泡性魚鱗癬樣紅皮症 | Bullous Congenital ichthyosiform erythoderma | |
| Prader-Willi氏症候群 | Fabry disease | GLA |
| 面肩胛肱肌失養症 | Facioscapulohumeral muscular dystrophy | FRG1 |
| Facioscapulohumeral dystrophy | FSHD | |
| Factor 13 Deficiency | F13A1 | |
| Factor V Leiden | F5 | |
| Familial Adenomatous Polyposis | APC | |
| Familial Dysautonomia | IKBKAP | |
| Familial Exudative Vitreoretinopathy | FZD4 | |
| Fanconi Anemia | FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG | |
| Finnish Nephrosis | NPHS1 | |
| Fragile X | FMR1 | |
| Friedreich Ataxia I | FRDA | |
| 半乳糖血症 | Galactosemia | GALT |
| 胃癌 | Gastric Cancer, Cadherin-E-1 | CDH1 |
| 高雪氏症 | Gaucher's disease | GBA |
| Gerstman-Straussler Disease | PRNP | |
| 戊二酸血症，第一、二型 | Glutaric aciduria type I,II | ETFA and GCDH |
| 肝醣儲積症 | Glycogen storage disease | G6PC, SLC37A4, GAA |
| GM1/GM2神經節甘脂儲積症 | GM1/GM2 gangliosidosis | GLB1 |
| Greig Cephalopolysyndactyly | GLI3 | |
| 亨汀頓氏舞蹈症 | Huntington disease(又稱Huntington's chorea) | HD |
| Hemophagocytic Lymphohistiocytosis | HPLH1 and PRF1 | |
| Hereditary Angioedema | C1NH | |
| 遺傳性出血性血管擴張症 | Hereditary Hemorrhagic Telangiectasia | HHT1 |
| Hereditary Leiomyomatosis | FH | |
| Hereditary Lymphedema | FOXC2 | |
| Hereditary Pancreatitis | PRSS1 | |
| Histiocytosis, Hemophagocytic Lympho- | HLH, PRF1 | |
| HLA | HLA-A | |
| Holt-Oram氏症候群 | Holt-Oram Syndrome | TBX5 |
| 高胱胺酸尿症 | Homocystinuria | CBS |
| Hunter Syndrome | IDS | |
| Hurler Syndrome | IDUA | |
| Hydrocephalus, X-linked | L1CAM | |
| 高免疫球蛋白M症候群 | Hyper-IgM syndrome | TNFSF5 |
| Hypertrophic Cardiomyopathy | LDB3, MYH7, TNNT2, MYBPC3 | |
| Hypokalemic periodic paralysis | SCN4A | |
| Hypophosphatasia | ALPL | |
| 性連遺傳型低磷酸鹽佝僂症 | X-linked hypophosphatemic rickets | |
| Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia | VCP | |
| Incontinentia Pigmenti | NEMO | |
| IPEX 症候群 | IPEX Syndrome | FOXP3 |
| Joubert氏症候群（家族性小腦蚓部發育不全） | Joubert syndrome | INPP5E |
| Kallmann氏症候群 | Kallmann syndrome | FGFR1 |
| KELL Antigen | KEL | |
| 甘迺迪氏症(脊髓延髓性肌肉萎縮症) | Kennedy Disease | SMAX1 |
| Krabbe Disease | GALC | |
| Lesch-Nyhan氏症候群 | Lesch-Nyhan syndrome | HPRT1 |
| Leber Retinal Congenital Amaurosis | GUCY2D, CEP290 | |
| Leigh Syndrome | LRPPRC | |
| Leukocyte Adhesion Deficiency | ITGB2 | |
| Li Fraumeni Syndrome | p53 | |
| Limb Girdle MD | POMT1, LMNA | |
| Long-Chain-AcylCoA Dehydrogenase | LCHAD, HADHA | |
| Long QT Syndrome | KCNQ1, SCN5A, KCNE2 | |
| Lymphedema-Hereditary | FOXC2 | |
| Lymphoproliferative Disorder, X-linked | SH2D1A | |
| Macular Dystrophy | VMD2 | |
| Machado-Joseph Spinocerebellar Ataxia-3 | SCA3 | |
| 楓糖尿症 | Maple syrup urine disease | BCKDHB |
| Marfan Syndrome | FBN1 | |
| Meckel Gruber | MKS1, MKS3 | |
| MCADD | MCADH | |
| Menkes氏症候群 | Menkes syndrome | ATP7A |
| Merosin-deficient congenital muscular dystrophy 1A | MCD1A | |
| MLD症候群 | Metachromatic Leukodystrophy（MLD） | ARSA |
| 甲基丙二酸血症 | Methylmalonic acidemia | MUT, MMACHC |
| Methylcobalamin G Deficiency (MTR) | MTR | |
| 黏脂質症 | Mucolipidosis | GNPTAB |
| Multiple Endocrine Neoplasia | MEN1, MEN2A, MEN2B | |
| Multiple Exostoses | EXT1, EXT2 | |
| Myasthenia Gravis | CHRNE | |
| 肌小管病變 | Myotubular Myopathy | MTM |
| Mitochondrial Myopathy-Complex I | NDUFS4 | |
| NEMO immunodeficiency | NEMO | |
| 神經纖維瘤症候群 | Neurofibromatosis | NF1, NF2 |
| 髮-肝-腸症候群 | Niemann-Pick disease | SMPD1, NPC1 |
| 非酮性高甘胺酸血症 | Nonketotic hyperglycinemia | AMT and GLDC |
| Noonan Syndrome | KRAS, PTPN11 and SOS1 | |
| Norrie | NDP | |
| Ocular Albinism, X-linked | GPR143 | |
| Oculocutaneous Albinism | TYR and OCA2 | |
| Oculodentaldigital Dysplasia | GJA1 | |
| Optic Atrophy | OPA1 | |
| 鳥胺酸甲胺醯基轉移?缺乏症 | Omithine transcarbamylase deficiency | OTC |
| 成骨不全症 | Osteogenesis imperfecta | COL1A2, COL1A1 |
| 骨質石化症 | Osteopetrosis | OSTM1, CLCN7 and TCIRG1 |
| OTOF related deafness | OTOF | |
| Pachyonychia Congenita | KRT16, KRT6A | |
| Paraganglioma-Nonchromaffin | SDHB | |
| Pelizaeus-Merzbacher氏症（慢性兒童型腦硬化症） | Pelizaeus-Merzbacher Disease | PLP1 |
| Periventricular Heteropia | FLNA | |
| Persistent Hyperinsulinemic Hypoglycemia of Infancy | ABCC8 | |
| Peutz-Jeghers Syndrome | STK11 | |
| Pfeiffer氏症候群 | Pfeiffer syndrome | EGFR2 |
| 苯酮尿症 | Phenylketonuria | PAH |
| Pheochromocytoma | SDHB | |
| 多囊腎 | Polycystic Kidney Disease | PKD1, PKD2 |
| Polycystic Kidney Disease, AR | PKHD1 | |
| Pompe Disease | GAA | |
| Propionic Acidemia | PCCA | |
| 假性副甲狀腺低能症 | Pseudohypoparathyroidism | GNAS1 |
| Retinitis Pigmentosa | RHO, IMPDH1, RPGR | |
| Retinoblastoma | RB1 | |
| Retinoschesis | RS1 | |
| 瑞特氏症候群 | Rett syndrome | MeCP2 |
| RhD | RHD | |
| Rothmund-Thomson | RECQL4 | |
| 肢近端型點狀軟骨發育不良 | Rhizomelic Chondrodysplasia Punctata | PCDP1 |
| Sacral Agenesis | HLXB9 | |
| Sanfillipo | SGSH | |
| Sanfilippo A | MPSIIIA | |
| Sanfillipo B | MPSIIIB, NAGLU | |
| Sathre-Chozen Craniosynostosis | TWIST | |
| Shwachman-Diamond syndrome | SBDS | |
| 嚴重複合型免疫缺乏症 | Severe combined immunodeficiency | ADA, IL2RG |
| 鐮刀型貧血 | Sickle Cell Anemia | HBB |
| Simpson-Golabi-Behmel | GPC3 | |
| Sjogren-Larsson | ALDH3A2 | |
| Smith-Lemli-Opitz 氏症候群 | Smith-Lemli-Opitz syndrome | SLOS |
| Sorsby Fundus Dystrophy | TIMP3 | |
| 脊髓性肌肉萎縮症 | Spinal muscular atrophy | SMN1 |
| 脊髓小腦退化性動作協調障礙 | Spinocerebellar ataxia | ATNX1, ATXN2, SCA3, ATXN7 |
| Spondyloepiphyseal Dysplasia | SECc | |
| Steroid Sulfatase Deficiency | STS | |
| Stomach-Ovarian-Endometrial Cancer | CDH1 | |
| Supravalvular Aortic Stenosis | ELN | |
| Surfactant Pulmonary B | SFTPB | |
| Tay-Sachs Disease | HEXA | |
| Thrombocytopenia with Beta Thalassemia | GATA1 | |
| Torsion dystonia | DYT1 | |
| Treacher Collins氏症候群 | Treacher Collins Syndrome | TCOF1 |
| 結節性硬化症 | Tuberous sclerosis | TSC1 and TSC2 |
| Ullrich Congenital Muscular Dystrophy | COL6A2 and COL6A3 | |
| Usher Syndrome | MYO7A | |
| VanderWoude -Popliteal Pterygium (IRF6) | IRF6 | |
| von Hippel-Lindau | VHL | |
| 瓦登伯格氏症候群 | Waardenburg syndrome | MITF and PAX3 |
| Walker-Warburg Syndrome | FKTN | |
| West Syndrome | ARX | |
| Wiskott- Aldrich氏症候群 | Wiskott- Aldrich Syndrome | WAS |
| Wilms Tumor | WT1 | |
| Wolman Lipase A | LIPA | |
| Zellweger氏症候群 | Zellweger syndrome | PEX1 |
| 水泡性魚鱗癬樣紅皮症（表皮鬆解角化過度症） | Bullous Congenital ichthyosiform erythoderma （epidermolytic hyperkeratosis） |