Ukuhlolwa Kwamaseli Okungaphambi Kokubeletha kwe-DNA

-Delile

• Kuyini ukuhlolwa kwe-DNA (cfDNA) yangaphambi kokubeletha?
• Kusetshenziselwani?
• Kungani ngidinga ukuhlolwa kwe-cfDNA kokubeletha?
• Kwenzekani ngesikhathi sokuhlolwa kokubeletha kwe-cfDNA?
• Ngabe kukhona engizodinga ukukwenza ukulungiselela lolu vivinyo?
• Ingabe zikhona izingozi esivivinyweni?
• Isho ukuthini imiphumela?
• Ngabe kukhona okunye engidinga ukukwazi mayelana nokuhlolwa kwe-cfDNA kokubeletha?
• Izinkomba

Kuyini ukuhlolwa kwe-DNA (cfDNA) yangaphambi kokubeletha?

Ukuhlolwa kwe-DNA engenawo amaseli ngaphambi kokubeletha ukuhlolwa kwegazi kwabesifazane abakhulelwe. Ngesikhathi sokukhulelwa, enye i-DNA yengane engakazalwa ijikeleza egazini likanina. Ukuhlolwa kwe-cfDNA kubheka le-DNA ukuthola ukuthi ingane kungenzeka yini ukuthi ibe ne-Down syndrome noma esinye isifo esidalwa yi-trisomy.

I-trisomy ukuphazamiseka kwama-chromosomes. Ama-Chromosomes ayizingxenye zamaseli akho aqukethe izakhi zofuzo zakho. Izakhi zofuzo ziyingxenye ye-DNA edluliselwe isuka kumama nobaba wakho. Ziphethe imininingwane enquma izici zakho ezihlukile, njengokuphakama nombala wamehlo.

• Ngokuvamile abantu banama-chromosomes angama-46, ahlukaniswe ngamabili angama-23, esitokisini ngasinye.
• Uma elinye lala mawele linekhophi eyengeziwe ye-chromosome, ibizwa ngokuthi i-trisomy. I-trisomy idala ushintsho endleleni umzimba nobuchopho obukhula ngayo.
• Kwi-Down syndrome, kukhona ikhophi elengeziwe le-chromosome 21. Lokhu kwaziwa nangokuthi i-trisomy 21. I-Down syndrome yisifo esihlasela kakhulu i-chromosome e-United States.
• Ezinye izinkinga ze-trisomy zifaka i-Edwards syndrome (trisomy 18), lapho kukhona ikhophi eyengeziwe ye-chromosome 18, ne-Patau syndrome (trisomy 13), lapho kukhona ikhophi elengeziwe le-chromosome 13. Lezi zinkinga ziyivelakancane kodwa zimbi kakhulu kune-Down syndrome. Iningi lezingane ezine-trisomy 18 noma i-trisomy 13 zifa kungakapheli unyaka wokuqala wokuphila.

Ukuhlolwa kwe-cfDNA kunengozi encane kakhulu kuwe nasenganeni yakho, kepha akukwazi ukukutshela ngokuqinisekile ukuthi ngabe ingane yakho inenkinga ye-chromosome. Umhlinzeki wakho wokunakekelwa kwezempilo uzodinga uku-oda ezinye izivivinyo ukuqinisekisa noma ukukhipha ukuxilongwa.

Amanye amagama: i-DNA yengane engenaselula, i-cffDNA, ukuhlolwa kokukhulelwa okungakahlaseli, i-NIPT

Kusetshenziselwani?

Ukuhlolwa kwe-cfDNA kuvame ukusetshenziselwa ukukhombisa ukuthi ngabe ingane yakho engakazalwa inengozi eyengeziwe yesinye sezifo ezilandelayo ze-chromosome:

• I-Down syndrome (i-trisomy 21)
• I-Edwards syndrome (i-trisomy 18)
• IPatau syndrome (trisomy 13)

Ukuhlola kungasetshenziselwa uku:

• Nquma ubulili bengane (ucansi). Lokhu kungenziwa uma i-ultrasound ikhombisa ukuthi izitho zangasese zomntwana azicaci kahle njengowesilisa noma owesifazane. Lokhu kungabangelwa ukuphazamiseka kwama-chromosomes ocansi.
• Hlola uhlobo lwegazi lwe-Rh. I-Rh yiprotheni etholakala kumaseli abomvu egazi. Uma uneprotheni, ubhekwa njenge-Rh positive. Uma ungenjalo, uyi-Rh negative. Uma une-Rh negative futhi ingane yakho engakazalwa ine-Rh positive, amasosha omzimba wakho angahlasela amangqamuzana egazi engane yakho. Uma uthola ukuthi awunayo i-Rh ekuqaleni kokukhulelwa, ungathatha imithi ukuvikela ingane yakho ezinkingeni eziyingozi.

Ukuhlolwa kwe-cfDNA kungenziwa ngaphambi kweviki le-10 lokukhulelwa.

Kungani ngidinga ukuhlolwa kwe-cfDNA kokubeletha?

Abahlinzeki abaningi bezokunakekelwa kwezempilo batusa lokhu kuhlolwa kwabesifazane abakhulelwe abasengozini enkulu yokuba nengane enesifo se-chromosome. Ungaba sengozini enkulu uma:

• Uneminyaka engama-35 noma ngaphezulu. Ubudala bomama yiyona nto eyingozi enkulu yokuba nengane ene-Down syndrome noma ezinye izifo ze-trisomy. Ingozi iyanda njengoba owesifazane ekhula.
• Ubuye waba nomunye umntwana onesifo se-chromosome.
• I-ultrasound yakho yombungu ayibukanga ijwayelekile.
• Eminye imiphumela yokuhlolwa kokubeletha ibingejwayelekile.

Abanye abahlinzeki bezempilo batusa ukuhlolwa kwabo bonke abesifazane abakhulelwe. Lokhu kungenxa yokuthi ukuhlolwa akunabungozi futhi kunezinga eliphezulu lokunemba uma kuqhathaniswa nezinye izivivinyo zokuhlolwa kokubeletha.

Wena nomhlinzeki wakho wezokunakekelwa kwempilo kufanele nixoxe ngokuthi ukuhlolwa kwe-cfDNA kukufanele yini.

Kwenzekani ngesikhathi sokuhlolwa kokubeletha kwe-cfDNA?

Uchwepheshe wezempilo uzothatha isampula yegazi emthanjeni osengalweni yakho, esebenzisa inaliti encane. Ngemuva kokuthi kufakwe inaliti, kuzoqoqwa inani elincane legazi kufakwe ithubhu yokuhlola noma isitsha. Ungase uzizwe uluma kancane lapho inaliti ingena noma iphuma. Lokhu ngokuvamile kuthatha imizuzu engaphansi kwemihlanu.

Ngabe kukhona engizodinga ukukwenza ukulungiselela lolu vivinyo?

Ungahle uthande ukukhuluma nomeluleki wezofuzo ngaphambi kokuhlolwa. Umeluleki wezofuzo uchwepheshe oqeqeshwe ngokukhethekile kwezofuzo nasekuhloleni izakhi zofuzo. Angachaza imiphumela engaba khona nokuthi ingasho ukuthini kuwe nasenganeni yakho.

Ingabe zikhona izingozi esivivinyweni?

Ayikho ingozi enganeni yakho engakazalwa futhi ingozi encane kakhulu kuwe. Ungaba nobuhlungu obuncane noma ukulimaza lapho kufakwe khona inaliti, kepha izimpawu eziningi ziyaphela ngokushesha.

Isho ukuthini imiphumela?

Uma imiphumela yakho ibingeyinhle, mancane amathuba okuthi ingane yakho ibe ne-Down syndrome noma enye i-trisomy disorder. Uma imiphumela yakho ibitholile, kusho ukuthi kunengozi eyengeziwe yokuthi ingane yakho inalezi zinkinga. Kodwa akukwazi ukukutshela ngokuqinisekile ukuthi ngabe ingane yakho iyathinteka yini. Ukuthola ukuxilongwa okuqinisekisiwe uzodinga ezinye izivivinyo, ezifana ne-amniocentesis ne-chorionic villus sampling (CVS). Lezi zivivinyo ngokuvamile ziyizinqubo eziphephe kakhulu, kepha zinengozi encane yokubangela ukukhulelwa kwesisu.

Uma unemibuzo ngemiphumela yakho, khuluma nomhlinzeki wakho wezokunakekelwa kwempilo kanye / noma umeluleki wezofuzo.

Funda kabanzi mayelana nokuhlolwa kwelabhorethri, ububanzi bezinkomba, nemiphumela yokuqonda.

Ngabe kukhona okunye engidinga ukukwazi mayelana nokuhlolwa kwe-cfDNA kokubeletha?

Ukuhlolwa kwe-cfDNA akunembile kwabesifazane abakhulelwe izingane ezingaphezu kweyodwa (amawele, ama-triplets, noma ngaphezulu).

Izinkomba

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Imininingwane ekulesi siza akufanele isetshenziswe esikhundleni sezokunakekelwa kwezokwelapha noma iseluleko. Xhumana nomhlinzeki wezempilo uma unemibuzo ngempilo yakho.