Wonke umntu unamajethi, ukutshintshana okuncinci kwimibala yeenwele, umbala wamehlo kunye nezinye iimpawu zifakwe kuma-chromosomes angama-46 ngaphakathi kweeseli zethu. Iisetyhini zesintu kunye neqanda zeseli zihluke kwezinye iiseli ekuthi ngasinye sinama-chromosomes angama-23 angenakulinganiswa ngaphakathi. Xa ukukhulelwa kuqalisa kwaye iqanda kunye nesidoda ziyahlanganiswa uqala ngeselitsha esitsha, kunye nama-chromosomes angama-46.
Izifo eziMkhulu
Imithetho nganye yemfuza iphezulu okanye iyaphindaphinda. Imizekelo yeengxaki eziphambili ziza kuba yi-cholesterol ephezulu, isifo se-Huntington, iminwe eminwe okanye iminwe, i-glaucoma, njl njl. Iingxaki ezibangelwa zizifo ezinokuthi zingabikho okanye zibi kakhulu. Ukuba umzali unomdla ophezulu kwiimeko ezithile kukho ithuba eli-50% lokuba umntwana ngamnye uya kuba neengxaki.
Iingxaki zokuBona
Ukuba ngaba omnye umzali unengxaki yokuguqula i-gene, i-gene ephezulu evela komnye umzali iya kuthintela ingxaki. Ukuba ngaba bobabini abazali babephethe isithintelo semfuza ngokoqobo kwakuya kubakho ithuba elilodwa lokuba umntwana ngamnye uza kuba nefa le ngxaki. Imizekelo yokuphazamiseka okugqithisileyo: i-sickle cell anemia, iTay-Sachs, phenylketonuria (PKU). Ukuphazamiseka ngokuphindaphindiweyo kwiintlungu zihlala zikhulu kakhulu.
Kukho ezinye iintlobo zeengxaki, ezinjengeengxaki ezixhaswe yi-X kunye nabathwali.
Iintlobo zovavanyo
I-Serum Alpha-fetoprotein (iMSAFP) yeMatern: Lo vavanyo lwegazi lwenziwa phakathi kweeveki ezi-15 ukuya kwe-17 zokukhulelwa.
Akukho mngcipheko kwintsana ngexesha lokuhlola. Igazi lomama lihlolwe enye okanye ngaphezulu kwezinto (i-alpha-fetoprotein, hCG, estradiol). Okuphakamileyo kunamanqanaba aqhelekileyo kunokubonisa isiphako se-tube ye-neural ngelixa amaxabiso angaphantsi angabonisa ukuphazamiseka okuthile kwe-chromosomal, ngokuqhelekileyo i-Down Syndrome. Iingxaki ezikulo khenketho kukuba zininzi izipho ezintle.
Oku kunokubangela ukuvavanya okungakumbi, ukukhathazeka, njl. Xa isizathu esingaba kukuba uhamba phambili kunokuba ulindeleke, unokuba namawele. Nangona kunjalo, uvavanyo oluqhelekileyo lufanele luncede ukuphelisa uxhalaba.
I-ultrasound: Ukuhlola oku kunokubonisa ukuba umntwana unesiphene ezinjengeengxaki zeengtso, iimpembelelo zentliziyo, kunye neziphene zesitho. Le nkqubo ayifumananga zonke iziphoso kwaye ayibonakalwanga iluncedo ekuqaliseni i-Down Syndrome ebusweni. I-ultrasound efanelekileyo ayibonakali ukuba awuyi kuba nomntwana onesiphene, nje ukunciphisa amathuba.
MaterniT21PLUS: Olu vavanyo luqhutywa kwigazi lomama kwaye luyakwazi ukujonga iimeko eziqhelekileyo zezifo zofuzo, kuquka i-Down Syndrome. Inokwenziwa kwangoko kwiiveki ezili-10 ekukhuleleni kwaye ayiyi mngcipheko kwintsana okanye ukukhulelwa. Kuya kukwazisa nokuba unentombazana okanye inkwenkwana.
I-Amniocentesis: Olu vavanyo luya kukhangela zonke iziphene ze-chromosomal ezichanekileyo ngeesampulu zeeseli zesisu kwi-amniotic fluid. Yenziwe ngokufakwa kwesaliti, ekhokelwa yi-ultrasound, kwisibilini sokuqokelela umkhuhlane. Ngokuqhelekileyo zenziwa phakathi kweeveki ezili-15 neye-18 zesigxina, nangona ezinye iingcali zenza amniocentesis zakuqala ngeveki ezili-9.
Ngokuqhelekileyo kuthatha iiveki ezimbini ukufumana iziphumo. Iziphumo zichanekileyo, nangona kunjalo, abanakukuxelela ubunzima besiphoso samanje. Kukho umngcipheko kumntwana kule nkqubo. Phantse i-1 kwabase-200 abafazi baya kuphutha emva kwe- amniocentesis , nangona umntwana engenakuphazamiseka, kwaye malunga no-1 kwaba-1 baya kufumana isifo.
I-Chorionic Vampus Sampling (CVS): I- CVS inokwenziwa ngaphambi kokukhulelwa, amanye amaziko akwenza okokuqala ngeveki eziyi-8, ngelixa abaninzi bebenza malunga neveki ezili-10. I-tube encinci inokufakwa kwisisu, okanye inokwenziwa ngesisu kunye nesampuli esincinci ithathwa ngaphandle kwesikhwama esinezingane zakho.
Iziphumo zeCVS zenziwa ngokukhawuleza iintsuku ezilishumi. Oku kuchanileyo kunokuba i-amniocentesis kunye neerhafu zeengxaki ziphezulu. Ukutshatyalaliswa kwemali ku-1 kwi-100 okanye kwi-200, umngcipheko omncinci weenombolo ezingekhoyo (iminwe neenzwane) kwi-1 kwi-2,000 okanye kwi-3,000 yabantwana. Ezi mngcipheko ziphezulu ngaphambili kwe-CVS.
Ngokwe-Matshi ye-Dimes, nabani na ongenakho ukuphendula imibuzo malunga nezifo okanye iimpawu kwiintsapho zabo kufuneka bacinge ngcebiso. Ingakumbi:
- Abo baneentsapho zembali zokukhubazeka kokuzalwa .
- Abafazi abakhulelweyo okanye abaceba ukukhulelwa emva kweminyaka engama-35 .
- Ababini abesele benomntwana onokuphulukiswa kwengqondo, isifo esizuze njengefa okanye isistim sokuzalwa.
- Ababini abanesifo esasisandul
- Abasetyhini abanobuhlwempu obuthathu okanye ngaphezulu okanye iintsana eziswele ebusaneni.
- Abantu abanenkxalabo yokuba indlela yabo yokuphila, imisebenzi, okanye imbali yonyango inokubeka umngcipheko wokukhulelwa, kubandakanywa nokuvezwa kweziyobisi, imishanguzo, imichiza, unyango, okanye unyango.
- Ababini abangathanda ukuvavanya okanye ulwazi oluninzi malunga nesiphene semfuza esenzeka rhoqo kwiqela labo lobuzwe.
- Ababini abatshatileyo okanye ezinye izihlobo zegazi.
- Abafazi abakhulelweyo, ngokusekelwe kwiimvavanyo zokuhlola, baye baxelelwa ukuba ukukhulelwa kwabo kubangelwa ingozi eyongeziweyo yeengxaki okanye ukukhubazeka kokuzalwa.
Ekugqibeleni, isigqibo senu. Izinto omele uziqwalasele xa ucinga ngeengcebiso zokuvelisa i-genetic yindlela oya kuhamba ngayo kunye novavanyo? Ziziphi iintlobo zezigqibo ozenzileyo kunye neziphumo? Yiyiphi ingcaciso oyifunayo?
Le mibuzo ayilula. Ngamanye amaxesha abacebisi bezofuzo banokukunceda ukuba uhlawule lonke ulwazi kwaye wenze ukhetho olululo. Amava am namava kunye neengcebiso zezofuzo zavela emva kokuvavanya kwe-AFP. Umcebisi wam wahlala kunye nomyeni wam kunye neyeeyure, ehamba kwimbali yentsapho, imbali yomsebenzi, iintlobo zeengozi, nokusinika ulwazi olungenamkhethe malunga neenketho zethu. Wahlala apho ngoxa sakhala kwaye sikhathazekile, kwaye azange azame ukusithonya ngendlela enye okanye enye. Nangona kunjalo, kwaba ngamava amahle.