Wonke umuntu unezinhlobo zomzimba, lezi zintshintshi ezincane ezinquma izinwele zezinwele, umbala wamehlo, nezinye izici zigcwele ama-chromosomes angu-46 ngaphakathi kwamaseli wethu. I-human sperm kanye namaqanda eqanda ahlukile kwamanye amaseli ukuthi ngalinye linama-chromosomes angama-23 angalinganiselwe ngaphakathi. Uma ukhulelwe kuqala futhi iqanda nesidoda lijoyina uqala ngeseli elisha lomkhiqizo, ngama-chromosomes angu-46.
Ukukhathazeka Okukhulu
Iziyalezo zofuzo ngayinye zikhulu noma ziphindaphindiwe. Izibonelo zezinkinga ezinkulu zizoba yi-cholesterol ephakeme, isifo se-Huntington, iminwe eyengeziwe noma izinzwane, i-glaucoma, njll. Izinkinga ezibangelwa ukukhathazeka okuyinhloko kungenzeka ukuthi azikho noma zinzima kakhulu. Uma umzali enesisindo esiyinhloko sesimo esithile kunethuba elingama-50% ukuthi ingane ngayinye izoba ne-disorder.
Ukuphazamiseka Okubuhlungu
Uma umzali oyedwa kuphela enesifo esiyinkimbinkimbi yesifo sofuzo, isakhi sofuzo esivela komunye umzali sizovimbela lesi sifo. Uma bobabili abazali bephethe izakhi zofuzo ezithinta izifo, kuzoba khona ithuba elilodwa lokuthi ingane ngayinye izoba nefa lesi sifo. Izibonelo zokuphazamiseka ngokweqile: i-sickle cell anemia, Tay-Sachs, phenylketonuria (PKU). Ukuphazamiseka okuzuzelelwe njengefa ngokuvamile kuvame kakhulu.
Kunezinye izinhlobo zezinkinga, ezifana nezifo ezixhunyaniswe ne-X, kanye nabathwali.
Izinhlobo zokuhlola
I-Seram Alpha-fetoprotein (i-MSAFP) yama-maternal: Lokhu kuhlolwa kwegazi kwenziwa phakathi kwamasonto angu-15 kuya kwangu-17 okukhulelwa.
Ayikho ingozi kumntwana phakathi nalokhu kuhlola. Igazi lomama lihlolwe isisodwa noma ngaphezulu (i-alpha-fetoprotein, hCG, i-estradiol). Ukuphakama kunamazinga avamile kungabonisa i-neural tube defect ngenkathi amagugu aphansi angabonisa ukukhathazeka okuthile kwe-chromosomal, ngokuvamile i-Down Syndrome. Izinkinga ezikuhlolisiswa yilokho kunamathuba amaningi amanga.
Lokhu kungabangela ukuhlolwa okunamandla okukhulu, ukukhathazeka, njll. Uma isizathu singase sibe nje ukuthi uhamba phambili kunokulindeleke, ungase ube namawele. Kodwa-ke, ukuhlolwa okuvamile kufanele kusize ukukhulula ukukhathazeka.
I-Ultrasound: Lokhu kuhlola kungabonisa ukuthi ingane inezinkinga ezifana nezinkinga zezinso, ukukhubazeka kwenhliziyo, nokukhubazeka kwesitho. Le nqubo ayitholi zonke iziphambeko futhi ayibonwanga ukuthi iyasiza ekunqumeni i-Down Syndrome ebusweni. I-ultrasound enhle ayikhombisi ukuthi ngeke ube nomntwana onesici, nje kunciphisa amathuba.
I-MaterniT21PLUS: Lokhu kuhlolwa kugijimela ngegazi lomama futhi kungabheka izifo ezijwayelekile kakhulu zofuzo, kuhlanganise ne-Down Syndrome. Kungenziwa masonto amasonto ayishumi ekukhuleleni futhi kungabi engozini yokulimaza ingane noma ukukhulelwa. Kuzokutshela nokuthi unentombazane noma umfana.
I-Amniocentesis: Lokhu kuhlola kuzothola isikrini kuzo zonke iziphambeko ze-chromosomal eziziwa ngamasampuli amangqamuzana e-fetal ku-amniotic fluid. Kuyenziwa ngokubekwa kwenaliti, eholwa yi-ultrasound, ngaphakathi kwesibeletho ukuqoqa uketshezi. Ngokuvamile kwenziwa phakathi kwamasonto angu-15 no-18 wokubeletha, nakuba abanye odokotela benza amniocenteis ekuseni ngaphambi kwamasonto angu-9.
Ngokujwayelekile kuthatha amasonto amabili ukuthola imiphumela. Imiphumela ingaba nenembile kakhulu, kodwa, ayikwazi ukukutshela ubukhulu besici samanje. Kukhona futhi ingozi kumntwana kusuka kule nqubo. Abesifazane abangaba ngu-1 ku-200 bazokhipha isisu ngemuva kwe- amniocentesis , ngisho noma ngabe ingane ingathinteki, futhi cishe u-1 ku-1,000 uzobhekana nokutheleleka.
I-Chorionic Villus Sampling (CVS): I- CVS ingenziwa ngaphambi kokukhulelwa, ezinye izikhungo zenza cishe amasonto angu-8, kuyilapho iningi lizenza cishe amasonto ayishumi ukukhulelwa. I-tube encane ingafakwa ngaphakathi kwesisu, noma ingenziwa ngesisu futhi isampula esincane esithathwe ngaphandle kwesikhwama esinezingane zakho.
Imiphumela ye-CVS ingenziwa ngemuva kwezinsuku eziyishumi. Lokhu kunembile kunamniocentesis futhi amazinga ezinkinga aphezulu. Ukushada indiza kungu-1 ku-100 noma ku-200, ingozi encane yamadijithi angalahlekile (iminwe nezinzwane) kumuntu oyedwa ku-2 000 noma ku-3,000 wezingane. Lezi zingozi ziphakeme kakhulu ekuqaleni kwe-CVS.
Ngokwe-March of Dimes, noma ubani oye waba nemibuzo engaphenduliwe ngezifo noma izici emndenini wakhe kufanele acabangele ukululekwa. Ikakhulukazi:
- Labo abanomlando womndeni weziphambeko zokuzalwa .
- Abesifazane abakhulelwe noma abahlela ukukhulelwa ngemuva kweminyaka engama-35 .
- Abantu abashadile abanezingane ezinesifo sengqondo, isifo esizuzwe njengefa noma isici sokuzalwa.
- Abashadile abanezingane ezisanda kuzalwa ezitholwa ngesifo sofuzo ngokusebenzisa ukuhlolwa kwesimiso.
- Abesifazane abaye bahlaselwa ngamathambo amathathu noma ngaphezulu noma abantwana abafa besana.
- Abantu abathintekayo ukuthi indlela yabo yokuphila, imisebenzi, noma umlando wezokwelapha kungabangela ingozi ekukhulelweni, kuhlanganise nokuvezwa kwezidakamizwa, imisebe, amakhemikhali, ukutheleleka, noma imithi.
- Imibhangqwana engathanda ukuhlolwa noma ulwazi oluthe xaxa mayelana nesici sezakhi zofuzo esenzeka kaningi eqenjini labo.
- Abantu abashadile abazala bomndeni noma ezinye izihlobo zegazi.
- Abesifazane abakhulelwe, ngokusekelwe ekuvivinyweni kokuhlolwa, baye batshelwe ukuthi ukukhulelwa kwabo kungaba izingozi ezingaphezu kwezinkinga noma ukukhubazeka kokuzalwa.
Ekugcineni, isinqumo sinakho. Izinto okudingeka uzicabangele uma ucabanga ngokululekwa kwezakhi zofuzo yikuphi ozohamba khona nokuhlolwa? Yiziphi izinhlobo zezinqumo ozolenza nemiphumela? Yiluphi ulwazi oludingayo?
Le mibuzo akulula. Ngezinye izikhathi abacebisi bezakhi zofuzo bangakusiza ukuba uhlukanise yonke imininingwane futhi wenze izinqumo ezinolwazi. Okuhlangenwe nakho kwami okwenziwe ngezeluleko zofuzo kwenzeka emva kokuhlolwa kwe-AFP okuhle. Umeluleki wami wahlala nomyeni wami kanye nami ngamahora, ehamba ngomlando womndeni, umlando womsebenzi, izigaba zemingcipheko, futhi asinike ulwazi olungenabulungiswa mayelana nezinketho zethu. Wahlala lapho sakhala futhi sikhathazekile, futhi azange azame ukusithinta ngendlela eyodwa noma enye. Naphezu kwalesi simo, kwaba nakho okuhle.