Ingabe ukhathazekile ngempilo yengane yakho? Khona-ke udinga ukwazi nge-NIPT (Ukuhlolwa Kwangaphambi Kokubeletha Okungahlaseli)!

Njengoba manje usulindele ukuba ngumama, kumelwe ukuthi ucabanga kakhulu ngempilo yakho kanye nengane yakho esesiswini sakho, akunjalo? Ngakho-ke namuhla sizokhuluma ngokuhlolwa okukhethekile okungenziwa ngesikhathi sokukhulelwa. Lokhu kubizwa ngokuthi i-NIPT (Ukuhlolwa Kwangaphambi Kokubeletha Okungahlaseli). Lokhu kukuvumela ukuthi ufunde ulwazi olubalulekile mayelana nempilo yengane yakho ngaphandle kokulimaza wena noma ingane.

Kuyini i-NIPT (Ukuhlolwa Kwangaphambi Kokubeletha Okungahlaseli)?

Kalula nje, i-NIPT ukuhlolwa okwenziwa ngesikhathi sokukhulelwa kwakho ukuze kubonakale ukuthi ingane yakho engakazalwa inezinkinga ezithile ze-chromosome . Isibonelo, ihlola ingozi yezimo ezifana ne -Down syndrome ( Trisomy 21) , i-Trisomy 18 ( Edwards syndrome) , kanye ne -Trisomy 13 (Patau syndrome) . Ingakutshela nobulili bengane yakho.

Lokhu kwenziwa ngesampula yegazi elithathwe kuwe. Ungamangali, igazi lakho liqukethe inani elincane kakhulu le -DNA yengane yakho (i-Deoxyribonucleic Acid) . I-DNA yilokho okwenziwa yizakhi zofuzo nama-chromosome ethu. Kufana nomdwebo womzimba wethu. Ngakho-ke kungokuhlola lezi zingcezu ze-DNA lapho odokotela bengathola khona umbono othile ngolwazi lwezakhi zofuzo lomntwana. Leli sampula legazi lithunyelwa elabhorethri ukuze lihlolwe. Kodwa khumbula, i-NIPT ayikwazi ukuhlonza yonke i-chromosome noma izimo zezakhi zofuzo.

Lokhu kuhlolwa kwe-NIPT kubizwa ngamanye amagama. Abanye bakubiza ngokuthi ukuhlolwa kwe-DNA okungenamaseli noma ukuhlolwa kwe-cfDNA . Abanye bakubiza ngokuthi ukuhlolwa kokukhulelwa okungahlaseli noma i-NIPS . Ungakhathazeki uma uzwa la magama, wonke ayivivinyo elifanayo.

Kubaluleke kakhulu ukuqaphela ukuthi lokhu ukuhlolwa kokuhlolwa , hhayi ukuhlolwa kokuxilonga . Lokhu kusho ukuthi kukutshela kuphela ukuthi ingane yakho inethuba noma akunakwenzeka kangakanani ukuba nesimo. Akunakusho ngokuqinisekile ukuthi, 'Yebo, ingane yakho inalesi simo' noma 'Cha, ingane yakho ayinaso lesi simo.'

Ukuthi kufanele wenze ukuhlolwa kwe-NIPT noma cha kuyisinqumo sakho ngokuphelele. Udokotela wakho uzokunikeza ulwazi ngalokhu futhi akusize wenze isinqumo esingcono kakhulu kuwe.

Yini ngempela efunwa ukuhlolwa kwe-NIPT?

Njengoba sishilo ngaphambili, i-NIPT ayikwazi ukuthola zonke izimo ze-chromosome noma izinkinga zokuzalwa. Ezimweni eziningi, ukuhlolwa kwe-NIPT kubheka:

• I-Down syndrome (i-Trisomy 21)
• I-Trisomy 18
• I-Trisomy 13
• Ukungahambi kahle okuhlobene nama-chromosome ocansi (X no-Y)

I-Down syndrome, i-trisomy 18, kanye ne-trisomy 13 kubangelwa yi-chromosome eyengeziwe. Ukuhlolwa kwe-chromosome yocansi kunganquma ubulili bomntwana futhi kungahlola nanoma yiziphi izinguquko enanini elijwayelekile lama-chromosome ocansi. Izimo ezivamile ze-chromosome yocansi zifaka phakathi i-Turner syndrome , i-Klinefelter syndrome , i-Triple X syndrome, kanye ne-XYY syndrome . Nokho, khumbula ukuthi akuzona zonke izivivinyo ze-NIPT ezithola zonke lezi zimo. Ngakho-ke kubalulekile ukukhuluma nodokotela wakho ngalokho ukuhlolwa kwakho kwe-NIPT okuzokufuna.

Kungani kwenziwa lokhu kuhlolwa kwe-NIPT? Kungcono kubani?

I-NIPT isiza ekunqumeni ingozi yokuthi ingane izalwe ine-chromosome engavamile. Odokotela bangase batuse lokhu kuhlolwa ezimweni ezilandelayo:

• Uma usuvele unengane enesifo esingavamile se-chromosome.
• Uma uhlolwe nge-ultrasound ukhombisile ukuthi ingane ingase ibe nokukhubazeka okuthile.
• Uma wake waba nokuhlolwa kokuhlolwa kwangaphambilini okwabonisa ukuthi kungase kube nenkinga.

I-American College of Obstetricians and Gynecologists (ACOG) yayivame ukuncoma i-NIPT kuphela uma ukhulelwe ngendlela enobungozi obukhulu . Lokho kusho ukuthi, mhlawumbe, uma uneminyaka engaphezu kwengu-35, noma uma othile emndenini wakho eye waba nesinye salezi zimo. Kodwa manje bathi bonke abesifazane abakhulelwe, kungakhathaliseki ukuthi basengozini, kufanele baziswe nge-NIPT futhi banikezwe ithuba lokuyithatha.

Kuye ngemiphumela yokuhlolwa kwe-NIPT, udokotela wakho wokubeletha angancoma ukuhlolwa kokuxilonga . Njengoba sishilo ngaphambili, ukuhlolwa kokuhlolwa kukutshela kuphela ukuthi kungenzeka yini. Ukuhlolwa kokuxilonga yikona okunganikeza impendulo eqinisekile ethi 'yebo' noma 'cha' yokuthi ingane yakho inesifo esithile.

Ukuhlolwa kwe-NIPT kufanele kwenziwe nini ngesikhathi sokukhulelwa?

Ukuhlolwa kwe-NIPT kuvame ukwenziwa ngemva kwamasonto ayi-10 okukhulelwa, kodwa kungenziwa nganoma yisiphi isikhathi kuze kube yilapho umntwana ezalwa . Ngokuvamile, akwenziwa ngaphambi kwamasonto ayi-10. Lokhu kungenxa yokuthi kungase kungabi ne-DNA eyanele egazini likamama ngaphambi kwaleso sikhathi ukuze kwenziwe ukuhlolwa ngokunembile.

Zinembe kangakanani izivivinyo ze-NIPT?

Lona umbuzo abantu abaningi abawubuzayo. Ukunemba kokuhlolwaKuye ngokuthi yisiphi isimo esihlolwayo. Futhi, izinto ezinjengokuthi ulindele amawele, ukuthi uthwele umntwana womunye umuntu (ukukhulelwa okungesinye), noma ukuthi ukhuluphele kakhulu kungathinta imiphumela ye-NIPT.

I-NIPT ngokuvamile inembe cishe ngo-99% ekutholeni i-Down syndrome. Ingase ingabi nembe kancane ekutholeni ama-trisomies 18 no-13. Sekukonke, i-NIPT inemiphumela embalwa engamanga kunezinye izivivinyo zokuhlolwa kokukhulelwa, njenge -quad screen. Lokhu kusho ukuthi ukuhlolwa akunakwenzeka ukuthi kunikeze imiphumela engamanga uma ingane ingathintekile.

Ingabe ukuhlolwa kwe-NIPT kunganquma ubulili bomntwana?

Yebo, ukuhlolwa kwe-NIPT kungabikezela ubulili bombungu. Abazali abaningi balangazelela ukwazi lokhu, akunjalo?

Ingabe kuyadingeka ukwenza ukuhlolwa kwe-NIPT ngesikhathi sokukhulelwa?

Cha, lokhu akuyona into ephoqelekile. Lesi yisinqumo somuntu siqu ngokuphelele. Kuvamile ukuba nemibuzo ngalokhu. Udokotela wakho uzokutshela konke ngezinye izindlela zokuhlolwa kokukhulelwa, okuhlanganisa ne-NIPT. Izinto eziningi zingathinta isinqumo sokuba ne-NIPT. Uma unenkinga yokwenza isinqumo, noma uma ungathanda ukuxoxa ngalokhu kuhlolwa ngemininingwane eminingi, umeluleki wezakhi zofuzo angakuchazela lezi zinketho zokuhlolwa kokukhulelwa futhi akusize ukhethe esikulungele kakhulu.

Odokotela balwenza kanjani lolu vivinyo lwe-NIPT?

Lokhu kulula kakhulu. Konke udokotela wakho akwenzayo ukuthatha isampula yegazi emthanjeni osengalweni yakho . Leli sampula legazi lithunyelwa elabhorethri ukuze kuhlolwe noma yikuphi ukukhubazeka ku-DNA yengane.

Sonke sine-DNA ngaphakathi kwamaseli ethu. Lawa maseli ahlala ehlukana futhi enza amaseli amasha. Lapho amaseli ehlukana, izingcezu ezincane ze-DNA (izingcezu ze-DNA) zigcina egazini lethu. Uma ukhulelwe, inani elincane kakhulu le-DNA yengane yakho lijikeleza egazini lakho. Lokhu kubizwa ngokuthi i-DNA engenamaseli, noma i-cfDNA . Ukuhlolwa kwe-NIPT kubheka izingcezu ze-DNA yengane yakho egazini lakho.

Kubalulekile ukukhumbula ukuthi kuthatha cishe amasonto ayi-10 ukuthi i-DNA yengane iqoqeke egazini lakho. Yingakho lokhu kuhlolwa kwenziwa kuze kube amasonto ayi-10 okukhulelwa.

Ingabe zikhona izingozi ngokuhlolwa kwe-NIPT?

Ukuhlolwa kwe-NIPT kuphephile kakhulu. Akukho bungozi enganeni. Ngoba kudinga kuphela ukuthatha igazi elincane kumama okhulelwe. Ngakho-ke akukho okufanele ukhathazeke ngakho.

Ngizoyithola nini imiphumela yokuhlolwa kwami?

Ngezinye izikhathi kungathatha amasonto amabili ukuthola imiphumela yokuhlolwa kwe-NIPT.Ungahamba. Kodwa kunezikhathi lapho uthola khona imiphumela kusenesikhathi. Udokotela wakho uthola imiphumela kuqala. Ngemuva kwalokho uzokwazisa ngaleyo miphumela.

Ithini imiphumela yokuhlolwa kwe-NIPT?

Ngenxa yokuthi i-NIPT iwukuhlolwa kokuhlolwa, ayinikezi impendulo ethi 'yebo' noma 'cha' yokuthi ingane yakho inesifo. Imiphumela ikhombisa ukuthi ingane yakho isengozini enkulu noma enciphile yokuthola lesi simo. Imiphumela yakho yokuhlolwa ngezinye izikhathi ingaba nzima ukuyiqonda. Ngakho-ke uma ungaqiniseki, cela udokotela wakho ukuthi akucacisele.

Amalabhorethri amaningi anikeza imiphumela ehlukene ngesimo ngasinye abasihlolayo. Isibonelo, ungathola umphumela omuhle (oyingozi enkulu) we-Trisomy 13, kodwa umphumela omubi (oyingozi encane) we-Down syndrome.

Futhi, ngezinye izikhathi kungase kungabikho miphumela ngoba i-DNA yomntwana ayanele egazini lakho, noma i-DNA yomntwana ayikwazi ukuhlonzwa kahle. Kuleso simo, ungaphinda ukuhlolwa kwe-NIPT. Ezimweni ezinjalo, udokotela wakho angakunikeza isiqondiso esingcono kakhulu.

Kuthiwani uma imiphumela ilungile/iyingozi enkulu?

Uma ukuhlolwa kwe-NIPT kubonisa ukuthi ingane yakho isengozini yokuba nokukhubazeka kwe-chromosome, udokotela wakho angase ancome ukuhlolwa kokuxilonga . Lokhu kuhlolwa kungasho ngokuqinisekile ukuthi 'yebo' noma 'cha' kungakhathaliseki ukuthi kukhona isimo. Lokhu kuhlolwa kufaka phakathi:

• I-Amniocentesis: Lokhu kuhilela ukukhipha inani elincane loketshezi lwe-amniotic esibelethweni sakho. Lokhu kuhlolwa kungenziwa ngemva kwamasonto ayi-15 okukhulelwa.
• Ukusampula Kwe-Chorionic Villus (CVS): Lokhu kuhlolwa kuthatha isampula yamaseli avela ku-placenta. Le sampula yamaseli ithunyelwa elebhu ukuze ihlolwe. Lokhu kungenziwa phakathi kwamasonto ayi-10 kuya kwayi-13 okukhulelwa.

Kubaluleke kakhulu ukukhuluma kahle nodokotela wakho ngemiphumela yakho ye-NIPT bese uthola lonke ulwazi oludingayo mayelana nokuthi yini okufanele uyenze ngokulandelayo.

Ingabe ukuhlolwa kwe-NIPT kungaba yiphutha nge-Down syndrome?

Ngenxa yokuthi i-NIPT iyisivivinyo sokuhlola, ayinembile ngokuphelele. Yingakho sithi ikhombisa ingozi kuphela. Ngakho-ke kubalulekile ukukhuluma nodokotela wakho ukuze ufunde kabanzi ngemiphumela yakho kanye nezinketho zakho ezilandelayo.

Ingabe kufanelekile ukuthola isivivinyo se-NIPT?

Kukuwe ukuthi unqume ukuthi uzohlolwa yini ngaphambi kokubeletha njenge-NIPT noma olunye uhlolo lwezakhi zofuzo. Udokotela wakho angaphendula noma yimiphi imibuzo ongase ube nayo. Kodwa ekugcineni, kukuwe ukuthi unqume ukuthi ukukhubazeka kwezakhi zofuzo noma kwe-chromosome kuzokuthinta kanjani wena nomndeni wakho, ngokusekelwe esimweni sakho esithile.

Le mibuzo izokusiza ukuthi wenze isinqumo:

• Ngizozizwa kanjani uma umphumela wokuhlolwa ubonisa ukuthi nginayo i-HIV?
• Ngingavuma yini ukwenza izivivinyo zokuxilonga ezifana ne-amniocentesis noma i-CVS?
• Uma ngithola ukuthi ingane yami inesifo sofuzo, noma isengozini enkulu yokuba nesifo sofuzo, ingabe ngingenza noma yiziphi izinguquko?
• Ingabe ukwazi lolu lwazi kuzongenza ngibe lusizi noma ngikhathazeke, noma kuzongisiza ngilungiselele ukunakekela umntwana?
• Ingabe ukwazi lolu lwazi kuzosiza odokotela bami ukuba banakekele ingane yami kangcono?

Kubiza malini ukuhlolwa kwe-NIPT?

Izindleko zokuhlolwa kwe-NIPT zingahluka. Iningi lezinqubomgomo zomshuwalense wezempilo limboza iningi (noma ngisho nazo zonke) zezindleko. Ezinye zimboza okungenani ingxenye yazo. Ngakho-ke kungumqondo omuhle ukuhlola nenkampani yakho yomshuwalense ngaphambi kokuthola ukuhlolwa. Uma ungenawo umshwalense, noma umshwalense wakho ungambozi ukuhlolwa kwe-NIPT, ungazikhokhela wena.

Ingabe i-NIPT ingenziwa emavikini angu-14?

Yebo, i-NIPT ingenziwa noma nini ngemva kwamasonto ayi-10 okukhulelwa. Lokho kusho ukuthi ayikho inkinga ngisho nakumaviki ayi-14.

Yini okufanele ngiyibuze udokotela wami mayelana nokuhlolwa kwe-NIPT?

Ukuba nokuhlolwa okufana ne-NIPT kuyisinqumo somuntu siqu. Ungase ube nemibuzo mayelana nokuthi imiphumela yakho isho ukuthini, noma ukuthi kufanele yini ube nokuhlolwa kwe-NIPT. Ungesabi ukubuza imibuzo. Khumbula, nguwe kuphela onganquma ukuthi yini engcono kakhulu kuwe nomndeni wakho.

Nazi ezinye zemibuzo evamile ongayibuza udokotela wakho:

• Ukube ubungimi, ubungayithola yini i-NIPT test?
• Uma ukuhlolwa kwami ​​​​kokuhlola kufakazela ukuthi nginayo i-HIV, yiziphi izinyathelo ezilandelayo?
• Ingabe ukhona umeluleki wezakhi zofuzo otholakalayo ongakhuluma ngezinketho zami?
• Angakanani amathuba okuba nemiphumela emibi engamanga?

Umyalezo oya nawo ekhaya

Kulungile, ngakho-ke ukuhlolwa kwe-NIPT kuyindlela yokuhlola ukukhulelwa ethembeke kakhulu ehlola ingozi yokuphazamiseka kwe-chromosome enganeni engakazalwa. Lokhu kuhlolwa kunganikeza nolwazi mayelana nobulili bomntwana. Ukuhlolwa kwe-NIPT akuhlonzi isifo - kubonisa kuphela ukuthi umntwana unamathuba amaningi okuba nesimo esithile. Ngemva kokuthola imiphumela ye-NIPT, ukuhlolwa kokuxilonga kunganconywa. Ukuhlolwa kokukhulelwa okufana ne-NIPT akuphoqelekile, futhi ukuthi ukwenze noma cha kuncike kuwe ngokuphelele.Khuluma nodokotela wakho noma umeluleki wezakhi zofuzo mayelana nokukhathazeka kwakho. Kubalulekile ukuqonda kahle ukuthi ukuhlolwa kufunani nokuthi imiphumela isho ukuthini, bese wenza isinqumo esinolwazi. Ngikufisela konke okuhle wena nomntanakho!

I- NIPT, Ukuhlolwa Kwangaphambi Kokubeletha Okungahlaseli, Ukuhlolwa Kwangaphambi Kokubeletha, I-Down Syndrome, Ukukhubazeka Kwama-chromosome, Ukukhulelwa, i-cfDNA, impilo yomntwana