Ukuhlolwa kombungu

Njengoba imibungu embalwa manje ishintshwa kumjikelezo ngamunye wokudluliswa kwe-IVF, ukukhetha imibungu sekubaluleke kakhulu kunanini ngaphambili. Ucwaningo lukhombisile ukuthi iningi lama-50% emibungu linama-chromosomally angajwayelekile futhi uma edluliswa imibungu enjalo kungenzeka yehluleke ukufakelwa esibelethweni noma kungaholela ekuphuphumeni kwesisu. Imibungu ngokwesiko ikhethwe ngokuya ngokuvela kwayo ngaphansi kwesibonakhulu ngemuva kwezinsuku ezi-3 noma ezi-5 zokukhula ku-incubator. Izindlela zobuchwepheshe obuphezulu manje sezisivumela ukuthi senze ukuhlolwa kombungu ukuthola imininingwane yezofuzo ne-chromosomal.

Ukuhlolwa Kokuzala Kwe-Embryo

Ungathola okuningi ngokuhlolwa kwe-Embryo Genetic ku-website yozakwethu - I-Bioscience elandelayo. Okulandelayo ama-Bioscience ochwepheshe emkhakheni wokuhlolwa kwezakhi zofuzo we-umbungu.

Amasu amasha wokuhlaziywa kombungu angakhombisa isimo se-chromosomal sembungu ngayinye. Lokhu kusivumela ukuthi sikhethe imibungu ebangeni eliphakeme yokudlulisa ngaleyo ndlela sinciphise ubungozi bokwehluleka ukukhulelwa futhi sithuthukise namathuba okuba nengane ephilile. Lezi zindlela ezithuthukile zokuhlaziywa kofuzo zenza sikwazi ukuhlola amaqanda nemibungu yezimpawu ezithile zokuthamba okuthile. Izindlela ezivame kakhulu zokuhlolwa kwe-umbungu ukuhlonza izakhi zofuzo (i-preimplantation genetic diagnosis (PGD)) kanye nokuhlolwa kwezakhi zofuzo (pre-previewlantation screening (PGS)).

Kuyini i-Preimplantation Genetic Diagnosis (PGD)?

I-PGD inqubo yokuhlola eyenza sikwazi ukuvivinya imibungu yombhangqwana ophethe uphawu lokuzalwa lwenkinga ethile yesifo esizuze ifa ukuze kukhethwe imibungu enempilo kuphela ukuthi ifakwe esikhundleni / idluliselwe esibelethweni sowesifazane ukuze izame ukufeza ukukhulelwa .

Ukuhlolwa kwe-PGD bekungumkhuba ojwayelekile iminyaka engaphezu kwe-20 futhi kuphumelela kakhulu ekutholeni ukuguqulwa kwezakhi zofuzo emizimbeni yemibhangqwana eyaziwa ngokuba sengozini yokudlulisela isifo esivela kubantwana bayo. Phakathi kwemibhangqwana engenalo inzalo, ukuhlolwa kwe-PGD kuvumela ukukhonjwa kwezimpawu zembeleko ezijwayelekile ze-chromosomally ezithuthukisa ezithuthukisa amazinga okukhulelwa we-IVF. I-PGD inenzuzo enkulu kwabesifazane abanomlando wokuphuphuma kwesisu, imijikelezo ye-IVF ehlulekile nakwiminyaka yobudala bomama abadala.

Phambilini, imibhangqwana enobungozi bokudlulisela ukuphazamiseka kwezakhi zofuzo yayikwazi ukuthola impilo yengane yayo engakazalwa ngemuva kokukhulelwa okwenzeka nge-amniocentesis. Kamuva, uma ukukhulelwa kuthinteka nokungahambi kahle, imibhangqwana ibhekene nenkinga yokuthi kufanele inqume ukuthi izokuqeda noma iqhubeke nokukhulelwa. Emibhangqwaneni ethwala ubungozi obaziwayo bokuthi ifa likhubazeke ngokungathi sína, i-PGD inikezela ngenye indlela yokuhlolwa kokukhulelwa nokuqedwa kokukhulelwa ngokuhlola imibungu (amaqanda aqukethe umquba) ngaphambi kokukhulelwa.

I-PGD yenziwa kusetshenziswa imicroscope enamandla amakhulu. Kususwa iseli elilodwa noma amaningi embungwini bese kuhlolwe uhlobo lwezintshisekelo. Imibungu engathintekile iyakhonjwa, yehlukaniswe nemibungu ethintekile, bese idluliselwa esibelethweni.

Yini i-Preimplantation Genetic Screening (PGS).

I-PGS ngokuvamile isho ekuhlolweni kwama-chromosome e-aneuploidy (inani elingajwayelekile lama-chromosomes). I-PGS yigama elisetshenziswa kaningi ngabachwepheshe bokuzala lapho bekhuluma ngokuzala nemibhangqwana ebhekene nezinkinga ezibandakanya iminyaka yobudala, ukwehluleka okuphindaphindiwe kwe-IVF, ukuphindaphindana kwezisu, noma ukukhulelwa okwakungajwayelekile. E-Medfem sisebenzisa i-PGS ukubhekisa ekutholeni imibungu engajwayelekile ye-chromosomally. Lokhu kugwema ukuthi imibungu engajwayelekile idluliselwe esibelethweni ngesikhathi se-IVF.

Indlela eyaziwa kakhulu nge-PGS yi-Array eqhathanisa i-genomic hybridization (aCGH), ehlaziya iseli elivela embungwini ekhulayo ngenombolo efanelekile yama-chromosomes. Lokhu kuhlolwa kungasebenza njengendlela yokuhlola ama-syndromes e-chromosome nolunye ushintsho lwesakhiwo se-chromosomal njengokudluliselwa.

Uyini umehluko phakathi kwe-PGD ne-PGS?

I-PGD ifaka ukutholwa kokuphazamiseka kwezakhi zofuzo olulodwa futhi i-PGS ifaka ukutholwa kwemibungu engajwayelekile yokuphuma kwesibeletho ebangela ukwehluleka kwe-IVF, ukuphuma kwesisu noma izinsana ezizalwe ne-Down's syndrome (Trisomy 21) noma i-Edward's Syndrome (Trisomy 18).

Ngubani i-PGD?

I-PGD isetshenziselwa abantu abaphatha uhlobo oluthile lwamalungu angaziwa eyaziwa ngokuthi i-gene eyodwa noma ukuphazamiseka kwe-chromosomal. Ukubiza okumbalwa:

  • I-cystic fibrosis
  • IHemophilia
  • Isifo SikaHuntington
  • I-Hypertrophic Cardiomyopathy
  • Isifo SikaMarfan
  • sokuwohloka kwemisipha
  • Ukudluliselwa kwaseRobertsonia
  • I-Sickle Cell Anemia
  • I-Spinal Musical Atrophy
  • Tay Sachs
  • Thalassemia

Obani abangazuza kwi-PGD ne-PGS?

Noma yimuphi umbhangqwana osengozini yokudlulisela isifo noma isimo sofuzo ungasizakala ngokuxilongwa kofuzo ngaphambi kokufakwa ngaphakathi. Abaqokiwe abangaba khona kufaka phakathi:

  • Abesifazane abaneminyaka engu-35 nangaphezulu
  • Izithwali zezinkinga zofuzo ezixhumene nobulili
  • Izithwali zezinkinga zofuzo olulodwa
  • Labo abanomlando womndeni wokuphazamiseka kwe-chromosomal
  • Abesifazane abathola ukulahleka kokukhulelwa okuphindaphindiwe okuhambisana nokukhathazeka kwe-chromosomal
  • Labo abake baba nemijikelezo eminingana engaphumelelanga ye-IVF lapho imibungu idluliselwe khona

Izinzuzo noma izinzuzo ze-PGD ne-PGS:

  • I-PGD inika amandla imibhangqwana ukuba iphishekele izingane zemvelo okungenzeka azikwazanga ukwenza ngenye indlela.
  • Ukwenza i-PGD ngaphambi kokufakelwa kunganciphisa isidingo se-amniocentesis ngokuhamba kwesikhathi lapho ekhulelwe.
  • I-PGD isiza ukunciphisa amathuba okukhulelwa kwengane ngesici sofuzo. Kodwa-ke, ayinakuyiqeda ngokuphelele le ngozi. Kwezinye izimo, ukuhlolwa okuthe xaxa okwenziwe ngesikhathi sokukhulelwa kuyadingeka ukuthola ukuthi isici sofuzo kungenzeka yini

Izici zobuchwepheshe ze-PGD

I-PGD yenziwa ngaphambi kokuthi umbungu udluliselwe esibelethweni. Kubalulekile ukuthi wazi ukuthi i-PGD ayithathi indawo yokuhlolwa kokubeletha. I-chorionic villi biopsy noma i-amniocentesis ivame ukunconywa ukuqinisekisa umphumela we-PGD. Inqubo yangempela ye-PGD ifaka i-IVF elandelwa ukwakhiwa kwesikhala ku-zona pellucida elandelwa ukufisa kweseli elilodwa kusuka kumbungu noma umzimba we-polar oocyte. Ngenye indlela amaseli we-trophectoderm avela ku-blastocyst angafiswa. Ngokuvamile i-PGS eMedFem itholakala ngokuhlola amaseli owodwa wombungu wosuku 3 lapho kusesigabeni sesithupha kuya kwayisishiyagalombili. Kulesi sigaba amangqamuzana embungu awakahlukaniswa ngakho-ke akwazi ukuba yiliphi iseli emzimbeni. Ukufaka iseli elilodwa embungwini ngeke kulilimaze ikhono lokukhula kombungu. Ukulandela inqubo ye-biopsy, isinyathelo sokuhlola siyalandela. Amaseli we-Biopsied ayahlaziywa kusetshenziswa inqubo ebizwa ngeFluorescent In Situ Hybridization (FISH) noma ithunyelwe ukuyohlolwa (PCR, CGH).

Umthetho waseNingizimu Afrika uyenqabela i-PGD ekukhetheni ubulili ngenxa yezizathu zenhlalo.

Kuyini iChromosomal Aneuploidy?

Sithola ifa le-23 lama-chromosomes ethu kumzali ngamunye (i-23 kusuka eqandeni kanye ne-23 kusuka isidoda). Lapho iqanda nesidoda kuhlangene i-zygote futhi lesi seli liqukethe ama-chromosomes e-46. I-zygote ihlukanisa ukwenza umbungu futhi ekugcineni umntwana akhelwe.

I-Aneuploidy ichaza inkinga ye-chromosome. Kusho ukuthi kukhona i-chromosomes eyodwa noma ambalwa ngaphezulu noma ngaphansi kwenombolo ejwayelekile ye-chromosome. Isibonelo, ama-chromosomes amathathu angama-21 noma i-trisomy 21 (i-Down Syndrome) yisibonelo se-aneuploidy. Ama-aneuploidies ajwayelekile kakhulu ama-trisomi kanye nama-chromosomes ocansi owengeziwe.

Izingane ezizalwe bukhoma zingaba ne-trisomy 13, 18, noma i-21. I-Trisomy yanoma iyiphi enye i-chromosome imvamisa iyabulala.

I-Trisomy 13 (i-Patau's syndrome) ibonakala ngokukhula kancane, udebe oluqhekezayo, ikhanda elincane nesilevu, nokubambezeleka kwengqondo. Izingane ezizalwe zine-trisomy 13 zinokukhubazeka kwengqondo okunzima nokunye ukukhubazeka kokuzalwa njengokungajwayelekile kwekhanda, izithupha, izindlebe, umlomo nezinyawo. Iningi lalezi zingane aliphili ngale kwezinyanga ezimbalwa zokuqala zokuphila.

Isifo i-Edward's syndrome (iTrisomy 18) sibonakala ngokubambezeleka okunzima, okuguquguqukayo nokwengqondo. Ingozi yokukhulelwa kwesisu ekukhulelweni inyuke ngokuphawulekayo. I-Trisomy 21 (Down's syndrome) ivela ngokulingana kuwo wonke amaqembu ezinhlanga, futhi ihlobene kakhulu nokukhula kweminyaka yobudala bomama. I-Down syndrome ibanga ukukhubazeka kwengqondo nezinye izinkinga zokuzalwa, njengokungajwayelekile kwenhliziyo.

Ukuxhaswa kwama-chromosomes ocansi kungadala ukukhula okungavamile kobulili, inzalo, nezinye izinkinga zokukhula. Abesilisa abane-aneuploidy ye-XXY bane-Klinefelter's syndrome, futhi banama-testes amancane futhi ngokuvamile abanaso isidoda.

I-Turner syndrome ibangelwa ukungabikho kwe-chromosome eyodwa yobulili (45, XO). Abantu abathintekile bangaba nezinkinga zenhliziyo, izinso nezinkinga zokuzala.

Okuningi mayelana ne-Advanced Maternal Age ne-PGD

Ukuhlobana okungafani phakathi kokuzala nokuzala kwabesifazane kuyaziwa. Ucwaningo oluningi selukhombisile ukuthi amanani okuzala ahla phakathi kwamashumi amathathu eminyaka wabesifazane, ancipha kancane bese ehla kakhulu ngemuva kwe-40.

Abesifazane abaneminyaka engama-20-34 ubudala batholwe ukuthi bane-50% yemibungu yabo ene-aneuploid lapho behlolwa, noma ngabe imibungu ibukeka ijwayelekile ngokuhlolwa okuncane. Kukhonjisiwe ukuthi awukho umehluko ophawulekayo esilinganisweni sokukhulelwa otholwa phakathi kwabesifazane abaneminyaka engama-35 neminyaka engama-40. Ngokuphambene, izinga lokukhulelwa liyehluka phakathi kwala maqembu amabili. Leli gebe likhula ngokwengeziwe lapho kubhekwa izinga lokulethwa. Izehlakalo zokuphuphunyelwa yisisu zikhuphuka zisuka ku-25% zineminyaka engama-35, ziya ku-33% eneminyaka engama-40 no-50% ezineminyaka engama-45. UMagli et al urekhode ukuthi ama-69% emibungu yeziguli zesifazane ezineminyaka engama-36-37 ithwele ukungahleleki kwama-chromosomal ngenkathi ukungajwayelekile inyuke yaya ku-81-90% ezigulini ezineminyaka engama-40 nangaphezulu. Lokhu okutholakele kwaholela esiphethweni sokuthi iminyaka yehle ekuzaleni kwabesifazane kungenxa yekhwalithi ye-oocyte empofu. I-PGD ichaza ukwehla kwezinga lokuzala nokwanda kokukhulelwa kwesisu kanye nezinga lokungajwayelekile lofuzo lwabesifazane asebekhulile.

Kwatholakala nokuthi izindlela zokuziphatha ezisetshenziselwa ukuhlolwa kwekhwalithi ye-umbungu kwezinye izikhathi kungenzeka ziyadukisa. Eminye yemibungu ebonakala iphelele ngokwesimo sokuziphatha yatholakala ingenzeki ngokwemvelo kanti eminye imibungu ingasebenzi empeleni yayijwayelekile. Uma kutholakala ukuthi iningi lama-embryos omuntu othize angajwayelekile ngokuchazayo angaphendukela kuhlelo lokunikela ngeqanda. Lolu lwazi lungasindisa izindleko kanye nokudumazeka kokuhluleka okuphindaphindiwe kwe-IVF.

Okuningi mayelana nokwehluleka kwe-IVF kwe-IVF

Singahlolela futhi ama-chromosomes 15, 16, 17, ne-22. Lawa ma-chromosomes angaholela ekufakweni kwehlulekile noma ukuphuma kwesisu.

Kutholakale ukuthi cishe imibungu engama-59% ehlolwe ezigulini ezinokukhulelwa okuphindaphindayo ibingajwayelekile ngokwe-chromosomally. Ekugcineni, abesifazane abaziwa ukuthi banezakhi zofuzo ezingajwayelekile okwatholakala ukuthi bane-62% yemibungu yabo eneuploid lapho behlolwa yi-FISH.

Izinkinga Zofuzo Ezixhunyaniswe Ngokobulili Ngini

Ukuzimisela kobulili kwenziwa kwizifo ezixhunywe ngokweqile ezixhunywe ku-X njengeDuchene muscular dystrophy, i-Lesch-Nylan syndrome, isifo seCharcot-Marie-Tooth, i-adrenoleukodystrophy nokungaboni kahle kombala. Zibizwa ngezifo ezixhumene nobulili ngoba kukhona ufuzo olungajwayelekile oluthwalwa nge-X chromosome. Owesifazane uthola i-chromosome eyodwa ye-X kuyise noyedwa kunina. Angazuza njenge-X chromosome eyodwa enesici kodwa uzoba ojwayelekile inqobo nje uma enye i-chromosome engu-X ijwayelekile. Owesifazane ngeke athintwe yilesi sifo kepha uzoba ophethe lesi sifo. Lesi sifo kungenzeka sidluliselwe emadodaneni akhe. Owesilisa uthola i-X chromosome kunina, ne-Y chromosome kuyise. Uma ethola njengefa i-chromosome X engalungile, uzoba nalesi sifo. Izifo ezixhunyaniswe ne-Y chromosome zivame ngokweqile.

Izifundo ze-Sperm FISH

Ukuhlukumezeka kwe-Chromosomal isidoda kungadala ukungabi nezisu nokuphuphuma kwezisu okujwayelekile. Imvamisa amaseli wesidoda awakahlolwa ukuhlukunyezwa kwe-chromosomal. Isidoda esingajwayelekile se-Chromosomal siyakwazi ukukhipha ukukhulelwa yize amathuba okuthi ukukhulelwa kwethemu ephelele nemijikelezo yehlulekile.

Ukuhlolwa kwe-Sperm FISH kungabhekelwa ezigulini ezinemijikelezo eminingi yokuNzala engasizakali engaphumelelanga, ukuphuka kwesisu okungachazwanga kanye nabesilisa abane-oligo- kanye ne-asthenozoospermia. Kuyaziwa ukuthi izehlakalo zokungalingani kwama-chromosomal emadodeni ase-Oligateroasthenozoospermic (OTA) aphakeme kunasesibalweni esijwayelekile. Lezi ziguli zinokubalwa kwesidoda esiphansi, i-morphology engemihle nokuhamba kwemoto. Imiphumela yokuhlola izokhombisa izehlakalo zokukhiqiza imibungu engajwayelekile.

Ukuhlolwa kwe-HLA

Kunezinkomba ezimbalwa zamanoveli lapho i-PGD ingasetshenziswa khona. Lokhu kufaka phakathi i-HLA - ukumatanisa noma "ukwakhiwa kweSling Sailing". Ukufaniswa kwe-leukocyte antigen (HLA) yomuntu kwenziwa lapho isiguli esithintekile sidinga umongo wethambo noma igazi lentambo ekufakweni kwe-stem cell. Ama-antigen e-HLA atholakala kumaseli amaningi emzimbeni wakho. Umnikeli ofanelana kahle ubalulekile, futhi i-HLA izuzwe njengefa. Umdlalo osondele kakhulu kungenzeka ube ngumfowethu noma udade. Ngabazali abafanayo, izingane zakwethu zinethuba lama-25% lokuba nomdlalo osondele we-HLA. Lapho abantu ababili babelana ngeHuman Leukocyte Antigens (HLA) efanayo, kuthiwa "bayamesha". Izicubu zabo ziyahambisana ngokuzivikela komzimba.

I-PGD ehlanganiswe nokuqhathaniswa kwe-HLA kusivumela ukuthi sikhombe isifo esisondelene nesibeletho. Ngakho-ke i-PGD ehambisana ne-HLA ayiqinisekisi nje kuphela ingane ephilile kepha futhi ivumela ukufaniswa kwesitokisi sokudluliselwa kwengane nengane ethintekile.

Amaphutha Obufuzo Obodwa

Muva nje sisungule ukuhlanganyela kwebhizinisi ngokujoyina izikhungo ezidumile zofuzo ezisenza sikwazi ukubona nokuhlolela izakhi zofuzo olulodwa. Basebenzisa izindlela ezikhethekile zokuhlola ezibenza bakwazi ukubona uhlobo olungenasici. Le ndlela ibizwa ngePCR (polymerase chain reaction) kanye neCGH (Ukuqhathanisa iGenome Hybridisation). Lezi Laboratories zofuzo ziyakwazi ukuthuthukisa izakhi zofuzo eziyinkambiso eyenzelwe imindeni.

Ezinye izinhlobo zofuzo abakwazi ukuzithola zibhalwe ngezansi.

Uma isifo esikhathazayo emndenini wakho singafakwanga ohlwini olungezansi, sizoxhumana nabo ukuthola ukuthi i-PGD kungenzeka yini.

Isifo sofuzo (iGene)

I-Aarskog (X-FGD1)

I-Achondroplasia (FGFR3)

I-Actin-Nemalin Myopathy (ACTA1)

I-Adenomatous Polyposis Coli (FAP-APC)

I-Adrenoleukodystrophy (ABCD1)

I-Agammaglobulinemia-Bruton (BTK)

I-Alagille Syndrome (JAG1)

Ukushoda kwe-Aldolase A (ALDOA)

I-Alfa Thalassemia (HBA1)

I-Alpha Thalassemia / Mental Retard (ATRX)

I-Alpha-1-Antitrypsin Defence (AAT)

I-Alport Syndrome (COL4A5)

I-ALS: I-Amyotrophic lateral Sclerosis 1, (SOD1)

I-Alzheimer Disease 3 (PSEN1)

I-Amegakaryocytic Thrombocytopenia, Congenital (CAMT)

I-Aniridia (PAX6)

I-Amyloidosis I-Transthyretin (TTR)

I-Angioedema, Hereditary (C1NH)

I-Ankylosing spondylitis (i-Susceptibility to, HLA-B27)

Ukuntuleka kwe-Antithrombin (SERPINC1)

I-Apert Syndrome (FGFR2)

I-Ataxia Telangiectasia (ATM)

I-Basal Cell (Gorlin) Synd (PTCH)

I-Beta Thalassemia (HBB)

Birt-Hogg-Dube (FLCN)

I-Bloom Syndrome (BLM)

I-Brachydactyly-Type C (GDF5)

Umdlavuza Webele (BRCA1 & 2)

I-CACH-Ataxia (EIF2B4)

I-CADASIL (Notch3)

ISifo seKanavan (ASPA)

I-Cardiomyopathy, Uhlobo lweBarth Dilated (TAZ)

I-Cardiomyopathy, iDilated Hypertrophic (MYH7)

I-Dilated Hypertrophic Cardiomyopathy MYH7

Carnitine-AcylCarn Translocase (SLC25A20)

Isifo seCeroid-Lipofuscinoses-Batten Disease (PPT1)

Uhlobo lwe-Ceroid-Lipofuscinoses-Finish Finish (CLN5)

Uhlobo lwe-Ceroid-Lipofuscinoses-Juvenile (CLN3)

UCharcot Marie Izinyo 1A (PMP22)

ICharcot Marie Tooth Neuropathy - 2E, (NF-L, NEFL)

I-Charcot-Marie-Tooth neuropathy 1B (MPZ)

I-Cherubism (SH3BP2)

I-Choroideremia (CHM)

Isifo Esingamahlalakhona I-Granulomatous Disease (CYBB)

I-Citrullinemia (ASS)

I-Cleidocranial Dysplasia (RUNX2)

Uhlobo lwe-Cockayne syndrome B (CSB; ERCC6)

I-Colon Cancer (HNPCC; MSH2)

I-Congenital Adrenal Hyperplasia (CYP21A2)

I-Congenital Disorder Glycosylation, 1a - CDG-1a (PMM2)

I-Congenital Disorder Glycosylation, 1c - CDG-1c (ALG6)

I-Congenital Disorder Glycosylation, 1e - CDG-1e (DPM1)

I-Congenital Disorder Glycosylation, 1g - CDG-1g (ALG12)

I-Congenital Erythropoietic Porphyria (UROS)

ICosman-Cyclic Neutropenia (ELA2)

I-Crigler Najjar (UGT1A1)

I-Crouzon Syndrome (FGFR2)

I-cystic Fibrosis (CFTR)

I-cystinosis (CTNS)

Isifo seDarier (ATP2A2)

Ubuthakathaka, Ukubuyisela emuva - (GJB2 Connexin 26)

Ubuthakathaka, Ukubuyisela emuva - (GJB6 Connexin 30)

Izithulu, Vuselela (DFBN1)

I-Denys-Drash Wilms Tumor (WT1)

Desmin Storage Myopathy (DES)

I-Diamond Blackfan (DBA-RPS19)

I-Diamond Blackfan (DBA2) Hhayi i-RPS19

I-Duchenne muscular dystrophy (DMD)

I-Dyskeratosis Congenita (DKC1)

I-Dystonia (TOR1A)

I-Dystrophia Myotonica-1 (DMPK) CTGrpt

I-Dystrophia Myotonica-2 (DM2; PROMM) CCTGrpt

I-Ectodermal Dysplasia I EDA1

I-Ehlers-Danlos COL3A1

I-Emery-Dreifuss X-Ixhunyaniswe Musical Dystrophy

I-Emery-Dryfuss AutoDom Musical Dystrophy (LMNA)

I-Epidermolysis Bullosa (KRT5)

I-Epidermolysis Bullosa Simplex KRT14

I-Epidermolysis Bullosa / Pyloric Atresia - ITGB4

I-Epidermolysis Dystrophic Bullosa-COL7A1

I-Epidermolytic Hyperkeratosis (KRT10)

I-Fabry (GLA)

I-Facioscapulohumeral Dystrophy (FSHD)

Ukuntuleka kwe-Factor 13 (F13A1)

I-Famsaal Dysautonomia (IKBKAP)

I-Familial Exudative Vitreoretinopathy FZD4

I-Fanconi Anemia A (FANCA)

I-Fanconi Anemia C (FANCC)

UFanconi Anemia F (FANC F)

UFanconi Anemia J (FANCJ, BRIP1)

I-Fanconia Anemia G (FANCG)

I-Fragile X (FMR1)

I-Friedreich Ataxia I (FRDA)

I-Galactosemia (GALT)

Umdlavuza Wesibeletho, Cadherin-E-1 (CDH1)

Isifo se-Gaucher (GBA)

IGenotyping-Molecular Signature-Fingerprinting

Isifo se-Gerstmann-Straussler Disease (PRNP)

I-Glutaric Acidemia 2A (ETFA)

I-Glycine Encephalopathy GLDC 80% (NKH)

Isifo Sokugcina iGlycogen I, Von Girke - GSD1a (G6PC)

Isifo Sokugcina iGlycogen 2, iPompe - GSD2 (GAA)

I-GM1 Gangliosidosis, Morquio (GLB1)

IHallervorden-Spatz-Pantothenate (PANK2)

IHemophilia A (Factor 8)

IHemophilia B (i-Factor 9)

Uhlobo lwe-Hereditary Hemmorrhagic Telangietasia Type 1 (HHT1)

I-Histiocytosis, Hemophagocytic Lympho- (HLH; PRF1)

IHLA DRBeta1 Iklasi II MHC (HLA DRB1 *)

I-HLA-Histocompatability, Ukufakelwa Kwe-transplantation (HLA)

I-Holt-Oram (TBX5)

I-Homocystinuria (CBS)

I-Hunter syndrome (IDS)

Isifo se-Huntington (HD)

I-Hurler Syndrome (MPSI-IDUA)

IHydrocephalus: I-X-Linked L1CAM

I-Hyper IgM (CD40-ligand; TNFSF5)

Ukukhubazeka ngezikhathi ezithile kwe-Hypokalemic (SCN4A-HYPP)

I-Hypophosphatasia (ALPL)

Hypophosphatemic VitD Rickets

Icthyosis, X-Steroid Sulf Def

Icthyosis.Congenital, Harlequin (ABCA12)

Incontinentia Pigmenti (NEMO)

Joubert Syndrome (AHI1)

KELL Antigen (KEL)

I-Kennedy-Spinalbarbar (AR)

I-Krabbe (GALC)

I-Leber Retinal Congenital Amaurosis-I (GUCY2D)

I-Leber Retinal Congenital Amaurosis-X (CEP290)

I-Leiomyomatosis-Hereditary (FH)

I-Lesch-Nyhan (HPRT1)

I-Leukemia, i-Acute Lymphocytic, Transplantation (KONKE)

I-Leukemia, i-Acute Myelo native, Transplantation (AML)

I-Leukemia, i-Chronic Myelo native, iTransplantation (CML)

I-Leukocyte Adhesion Defence (ITGB2)

I-Li-Fraumeni Syndrome (TP53)

I-Limb Girdle MD (FKTN)

I-Long-Chain-AcylCoA Dehydrogenase (LCHAD: HADHA)

I-Lymphedema-Hereditary (FOXC2)

Isiphazamiso se-Lymphoproliferative, X-exhunywe (i-SH2D1A)

IMachado-Joseph Spinocerebellar Ataxia-3 (SCA3)

I-Macular Dystr-Best Vitelliform (VMD2)

I-Maple Syurp Urine Dz E1-Beta (BCKDHB)

I-Marfan Syndrome (FBN1)

I-Meckel-Gruber Syndrome-3 (MKS3)

I-Menkes (ATP7A)

Uhlobo lwe-Merosin-deferior congenital musstr dystrophy uhlobo lwe-1A (MDC1A)

I-Metachromatic Leukodystrophy (ARSA)

Methylcobalamin G Defence (MTR)

I-Methylmalonic Acidemia (MUT)

I-Mitochondrial Myopathy-Complex I (NDUFS4)

I-Mucolipidosis 2, I Cell (GNPTAB)

I-Multiple Endocrine Neoplasia 1 (MEN1)

I-Multiple Endocrine Neoplasia 2 MEN2 (RET)

Ama-Multiple Extostoses (EXT1)

Ama-Multiple Extostoses (EXT2)

I-Myasthenia Gravis (CHRNE)

I-Myotubular Myopathy X-Linked (MTM)

I-NEMO immunodeficiency (IKBKG)

I-Nephrosis - Finnish (NPHS1)

I-Neurofibromatosis 1 (NF1)

I-Neurofibromatosis 2 (NF2)

I-Niemann Pick - Uhlobo A (SMPD1)

I-Niemann Pick - Uhlobo C (NPC1)

I-NonKetotic Hyperglycinemia (GLDC)

I-Noonan (PTPN11)

Norrie (NDP)

I-Occulocutaneous Albinism II- (OCA2)

I-Albulism ye-Occulocutaneous I, OCA1 (TYR)

I-Ocular Albinism-X Ixhunyiwe (GPR143)

I-Oculodentodigital Dysplasia (GJA1)

I-Optic Atrophy 1 (OPA1)

Ukuntuleka kwe-Ornithine transcarbamylase (OTC)

I-Osteogenesis Imper II / IV neChondrodysplasias (COL1A2)

I-Osteogenesis Imperfecta I (COL1A1)

I-Osteop Petrosis (CLCN7)

I-Osteop Petrosis (TCIRG1; APT6)

I-Pachyonychia Congenita (KRT6A)

I-Pachyonychia Congenita (KRT16A)

I-Pancreatitis, i-Chronic Calcific (PRSS1)

I-Pancreatitis-Hereditary (KEL)

I-Paraganglioma-Nonchromaffin (SDHB)

I-Pelizaeus-Merzbacher, i-X exhunyiwe (PLP1)

I-Periventricular Heteropia (FLNA)

I-Pendred Syndrome (SLC264A)

I-Persistent Hyperinsulinemic Hypoglycemia ye-Infancy (ABCC8)

I-Pfeiffer Syndrome (FGFR2)

I-Phenylketonuria PKU (PAH)

I-Pheochromocytoma (SDHB)

Isifo sezinso sePolycystic (PKD1)

Isifo sezinso sePolycystic (PKD2)

Isifo sezinso sePolycystic, Recessive (PKHD1)

I-Pompe, i-Glycogen Storage Disease 2, GSD2 (GAA)

I-Propionic Acidemia (PCCA)

I-Pseudohypoparathyroidism 1a (GNAS1)

I-retinitis Pigmentosa (RHO)

I-retinitis Pigmentosa adRP10 (IMPDH1)

I-Retinitis Pigmentosa X-exhunyiwe (RPGR)

I-Retinoblastoma 1 (RB1)

I-retinoschisis, (RS1)

I-Rett Syndrome (MECP2)

Iqembu legazi le-Rhesus D (RHD)

I-Rhizomelic Chondrodysplasia punctata (RCDP1)

I-Rothmund-Thompson Syndrome (RECQLA)

I-Sacral Agenesis (HLXB9)

ISanfilippo A (MPSIIIA)

Sanfillipo B (MPSIIIB) (NAGLU)

I-Sathre-Chotzen Craniosynostosis (TWIST)

I-SCIDX1 (IL2RG)

I-Severe Comb Immunodef (SCID)

I-Shwachman-Diamond Syndrome (SBDS)

I-Sickle Cell (HBB)

Simpson-Golabi-Behmel Syndrome (GPC3)

I-Sjogren-Larsson (ALDH3A2)

USmith-Lemli-Opitz (SLOS)

I-Sorsby Fundus Dystrophy (TIMP3)

I-spinal musr atrophy SMA (SMN1)

I-Spinocerebellar Ataxia-1, SCA1 (ATNX1)

I-Spinocerebellar ataxia-2, SCA2 (ATXN2)

ISpinocerebellar Ataxia-3, iMachado-Joseph (SCA3)

I-Spinocerebellar Ataxia-7 (ATXN7)

I-Spondyloepiphyseal dysplasia, i-congenital (SEDc)

Ukushoda kwe-Steroid Sulfatase (STS)

I-Stomach-Ovarian-Endometrial Cancer (CDH1)

I-Supravalvular Aortic Stenosis (ELN)

I-Surfactant-Pulmonary B (SFTPB)

Ama-Tay-Sachs (HEXA)

I-Thrombocytopenia nge-Beta-Thalassemia (GATA1)

I-Torsion dystonia (DYT1)

I-Treacher Collins (TCOF1)

I-Transplantation-BoneMarrow-StemCell (i-HLA locus)

I-Tuberous Sclerosis 1 (TSC1)

I-Tuberous Sclerosis 2 (TSC2)

I-Usher Syndrome (MYO7A)

IVanderWoude -Popliteal Pterygium (IRF6)

Isifo se-Von Hippel-Lindau (VHL)

I-Waardenburg Syndrome Type II (MITF)

I-Waardenburg Syndrome-I / III (PAX3)

I-West Syndrome (ARX)

UWilms Tumor (WT1)

I-Wiskott-Aldrich Syndrome (WAS)

Wolman Lipase A (LIPA)

Isifo seZellweger Peroxisome (PEX1)

 

Okubhekwayo

  1. Intshumayelo K, uVan Steirteghem A, uLiebaers I. (2004) Ukuxilongwa Kofuzo Ngaphambi Kokutshala. ILancet 363.9421: 1633.
  2. UFreyereisem E, uSteffann J, uRomana S, et al. (2007) Isipiliyoni seminyaka emihlanu sokuxilongwa kofuzo ngaphambi kokutshalwa esikhungweni saseParis: umphumela wemijikelezo yokuqala engama-441. Umanyolo weSteril 87: 60-73
  3. UHarper J, Handyside A. (1996) Ukuxilongwa Kwangaphambi Kokufakwa Kwesifo Esizuze Kifa. I-Alpha. UJan: 1-2
  4. U-Lewis, R. (2000) Ukuxilongwa kwezakhi zofuzo kusengaphambili. Usosayensi 14 (22); 16-19.
  5. IHarper, i-JC neDelhanty, i-JDA (1996) Ukutholwa kokungajwayelekile kwe-chromosomal emibungwini yokufakwa kwabantu kusetshenziswa i-FISH. J. Siza. Ukuhlambalaza. Izakhi zofuzo., 13, 137-139
  6. UMagli MC, uGianaroli L, Ferraretti D, Crippa A. (2003) ukungajwayelekile kweChromosomal emibungwini engakafakwa. Ingqungquthela yesine ye-European Cytogenetics. IBologna, e-Italy.
  7. UTarin JJ, i-Handyside AH. (1993) Amasu we-embryo biopsy wokuxilongwa kwangaphambi kokumila. Umanyolo Steril 59: 943-952.
  8. UMunè S, uCohen J, uSable D. (2002) Ukuxilongwa kokufakelwa kwezakhi zofuzo ngaphambi kokufakwa kobudala bomama kanye nezinye izinkomba. Umanyolo Steril 78: 234-236
  9. UMunè S, uLee A, uRozenwaks Z, uGrifo J, uCohen J. (1993) Ukuxilongwa kwama-chyposome anueploidies amakhulu emibungu yabantu engakafakwa. UHum Reprod 8: 2185-2191
  10. UGianaroli L, uMagli MC, uFerraretti AP. (2002) Indima yokuxilongwa kofuzo kusengaphambili kokufakelwa ama-anueploidies. I-Reprod Biomed Online 4: 31-36
  11. UGianaroli L, uMagli MC, uMunè S, uFiorentio A, et al. (1997) Ngabe ukuxilongwa kwezakhi zofuzo kusazosiza iziguli ezinesifo esibi sokufeza ukukhulelwa? UHum Reprod 12: 1762-1767
  12. URubio C, uSimon C, uVidal F, uRodrigo L, et al. (2003) Ukukhubazeka kweChromosomal nokukhula kombungu emibhangqwaneni ephindaphindwayo yokuphuphuma kwesisu. UHum Reprod 18: 182-188.
  13. Oyesiku JOO, Turner CF. (2002) Izinketho zokuzala zabashadikazi abane-haemophilia. I-Haemophilia 8: 348-352.
  14. IBraude P, iPickering S, iFinter F, i-Ogilvie CM. (2002) Ukuxilongwa Kofuzo Ngaphambi Kokufakelwa. Ukubuyekezwa Kwemvelo I-Genetics 3; 941-953.
  15. I-Wells D, i-Escudero T, i-Levy B, et al. (2002) Ukusetshenziswa kokuqala kokuqhathaniswa kwe-genomic hybridization nokuhlolwa komzimba we-polar ukuthola ukuxilongwa kwezakhi zofuzo kwe-anueploidy. Umanyolo Steril 78: 543-549.
  16. UHardy K, uMartin KL, uLeese HJ, et al. (1990) Ukuthuthukiswa kokufakwa komuntu ngaphambi kwe-in vitro akuthinteki kabi yi-biopsy esigabeni seseli lesishiyagalombili. UHum Reprod 5: 708-714.
  17. I-Strom CM, i-Rechitsky S, i-Wolf G, i-Verlinsky Y. (1994) Ukuthembela kokuhlaziywa kwe-polymerase chain reaction (PCR) kwamaseli owodwa wokuxilongwa kofuzo kusengaphambili. J Siza Ukuhlambalaza Genet 11: 55-62.
  18. URenwick, P, uTrussler J, u-Ostad-Saffari E, uFassihi H, uBlack C, et al. (2006) Ubufakazi Bemigomo Namacala Okuqala Kusetshenziswa i-Preimplantation Genetic Haplotyping- I-Paradigm Shift ye-Embryo Diagnosis. Ukuhlanjululwa Kwama-Biomed 13: 110-119
  19. UMeseguer N, uGarrido N, uRemohi J, uSimon C, et al. (2002) Ukukhethwa kobulili: Izindaba zokuziphatha, zesayensi, zezomthetho nezisebenzayo. J Siza Uhlobo Oluphikisiwe 19: 443- 446.
  20. UVerlinsk Y, uRechitsky S, uSharapova T, et al. (2004) Ukufakwa kwe-HLA kwangaphambili. I-JAMA 291: 2079 - 2085
  21. I-Sarrate Z, i-Vidal F ne-Blanco J. (2008) Iqhaza lesidoda se-fluorescent ezifundweni ze-hybridization ezigulini ezingazali: izinkomba, indlela yokufunda, nokubaluleka komtholampilo. Umanyolo Oyinyumba
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