Ngaba ukhathazekile ngempilo yomntwana wakho? Ngoko ke kufuneka wazi nge-NIPT (Noninvasive Prenatal Testing)!

Ekubeni ngoku ulindele ukuba ngumama, kufuneka ukuba ucinga kakhulu ngempilo yakho kunye neyomntwana wakho osesiswini sakho, akunjalo? Ngoko ke namhlanje siza kuthetha ngovavanyo olukhethekileyo olunokwenziwa ngexesha lokukhulelwa. Olu lubizwa ngokuba yi-NIPT (Noninvasive Prenatal Testing). Oku kukuvumela ukuba ufunde ulwazi olubalulekileyo malunga nempilo yomntwana wakho ngaphandle kokulimaza wena okanye umntwana.

Yintoni i-NIPT (Uvavanyo Lokukhulelwa Olungenalo Utyando)?

Ngamafutshane, i-NIPT luvavanyo olwenziwa ngexesha lokukhulelwa kwakho ukuze kubonwe ukuba umntwana wakho ongekazalwa uneengxaki ezithile ze-chromosome . Umzekelo, ijonga umngcipheko weemeko ezifana ne -Down syndrome ( Trisomy 21) , i-Trisomy 18 ( Edwards syndrome) , kunye ne -Trisomy 13 (Patau syndrome) . Ingakuxelela nesini somntwana wakho.

Oku kwenziwa ngesampuli yegazi ethathwe kuwe. Ungamangaliswa, igazi lakho liqulathe inani elincinci kakhulu le -DNA yomntwana wakho (i-Deoxyribonucleic Acid) . I-DNA yile nto yenziwe ngayo iijini zethu kunye neekromosomu. Ifana nomzobo womzimba wethu. Ngoko ke ngokuvavanya ezi ziqwenga ze-DNA apho oogqirha banokufumana umbono othile ngolwazi lwemfuza yomntwana. Le sampuli yegazi ithunyelwa kwilebhu ukuze ivavanywe. Kodwa khumbula, i-NIPT ayinakukwazi ukubona zonke iikromosomu okanye imeko yemfuza.

Olu vavanyo lwe-NIPT lubizwa ngamanye amagama. Abanye bathi luvavanyo lwe-DNA olungenaseli okanye uvavanyo lwe-cfDNA . Abanye bathi luvavanyo lwe-prenatal olungenalo umhlaza okanye i-NIPS . Musa ukoyika xa usiva la magama, onke ayafana.

Kubaluleke kakhulu ukuqaphela ukuba olu luvavanyo lokuhlola , hayi uvavanyo lokuxilonga . Oku kuthetha ukuba lukuxelela kuphela ukuba umntwana wakho unokuba naso okanye akunakwenzeka kangakanani na. Ayinakutsho ngokuqinisekileyo ukuba, 'Ewe, umntwana wakho unaso esi sifo' okanye 'Hayi, umntwana wakho akanaso esi sifo.'

Ukuba uza kwenza uvavanyo lwe-NIPT okanye hayi sisigqibo sakho ngokupheleleyo. Ugqirha wakho uza kukunika ulwazi malunga noku aze akuncede wenze isigqibo esifanelekileyo kuwe.

Yintoni kanye kanye ekhangelwa luvavanyo lwe-NIPT?

Njengoko besitshilo ngaphambili, i-NIPT ayinakukwazi ukubona zonke iimeko ze-chromosome okanye iingxaki zokuzalwa. Kwiimeko ezininzi, uvavanyo lwe-NIPT lukhangela oku kulandelayo:

• I-Down syndrome (iTrisomy 21)
• I-Trisomy 18
• I-Trisomy 13
• Izinto ezingaqhelekanga ezinxulumene neekhromozomu zesini (X kunye no-Y)

I-Down syndrome, i-trisomy 18, kunye ne-trisomy 13 zibangelwa yi-chromosome eyongezelelweyo. Uvavanyo lwe-chromosome yesondo lunokumisela isini somntwana kwaye lunokujonga naluphi na utshintsho kwinani eliqhelekileyo lee-chromosome zesondo. Iimeko eziqhelekileyo ze-chromosome yesondo ziquka i-Turner syndrome , i-Klinefelter syndrome , i-Triple X syndrome, kunye ne-XYY syndrome . Nangona kunjalo, khumbula ukuba ayizizo zonke iimvavanyo ze-NIPT ezifumanisa zonke ezi meko. Kubalulekile ke ngoko ukuthetha nogqirha wakho malunga nokuba uvavanyo lwakho lwe-NIPT luza kujonge ntoni.

Kutheni le nto kwenziwa olu vavanyo lwe-NIPT? Ngubani olungele lona?

I-NIPT inceda ekumiseleni umngcipheko wokuba umntwana azalwe ene-chromosome engaqhelekanga. Oogqirha banokucebisa olu vavanyo kwiimeko ezilandelayo:

• Ukuba sele unomntwana one-chromosome engaqhelekanga.
• Ukuba uhlolwe nge-ultrasound ubonise ukuba umntwana usenokuba uneengxaki ezithile.
• Ukuba ukhe wavavanywa ngaphambili, oko kwabonisa ukuba kukho ingxaki.

I-American College of Obstetricians and Gynecologists (ACOG) yayisoloko icebisa i-NIPT kuphela ukuba ukhulelwe ngendlela enobungozi obukhulu . Oko kuthetha ukuba, mhlawumbi, ukuba ungaphezulu kweminyaka engama-35, okanye ukuba kukho umntu kusapho lwakho okhe waba nenye yezi meko. Kodwa ngoku bathi bonke abafazi abakhulelweyo, nokuba basengozini kangakanani na, kufuneka baziswe nge-NIPT baze banikwe ithuba lokuyifumana.

Ngokuxhomekeke kwiziphumo zovavanyo lwe-NIPT, ugqirha wakho wokubelekisa unokucebisa uvavanyo lokuxilonga . Njengoko besitshilo ngaphambili, uvavanyo lokuhlola lukuxelela kuphela amathuba okuba umntwana wakho akhulelwe. Uvavanyo lokuxilonga lolona lunokunika impendulo eqinisekileyo ethi 'ewe' okanye 'hayi' yokuba umntwana wakho unesifo.

Uvavanyo lwe-NIPT lufanele lwenziwe nini ngexesha lokukhulelwa?

Uvavanyo lwe-NIPT ludla ngokwenziwa emva kweeveki ezili-10 zokukhulelwa, kodwa lunokwenziwa nangaliphi na ixesha de umntwana azalwe . Ngokuqhelekileyo, alukwenziwa ngaphambi kweeveki ezili-10. Oku kungenxa yokuba kusenokungabikho DNA eyaneleyo egazini likamama ngaphambi kwelo xesha ukuze kwenziwe uvavanyo ngokuchanekileyo.

Zichaneke kangakanani iimvavanyo ze-NIPT?

Lo ngumbuzo abantu abaninzi abawubuzayo. Ukuchaneka kovavanyoKuxhomekeke kwimeko evavanywayo. Kwakhona, izinto ezinje ngokuba ulindele amawele, ukuba uthwele umntwana womnye umntu (ukukhulelwa okungengowakho), okanye ukuba utyebile kakhulu zinokuchaphazela iziphumo ze-NIPT.

I-NIPT ngokubanzi ichanekile malunga ne-99% ekufumaneni i-Down syndrome. Isenokuba ichanekile kancinci ekufumaneni i-trisomies 18 kunye ne-13. Lilonke, i-NIPT ineziphumo ezimbalwa ezingezizo ezilungileyo kunezinye iimvavanyo zovavanyo lokukhulelwa, ezifana ne-quad screen. Oku kuthetha ukuba uvavanyo alunakwenzeka ukuba lubonise iziphumo ezingezizo ezilungileyo xa umntwana engachaphazeleki.

Ngaba uvavanyo lwe-NIPT lunokumisela isini somntwana?

Ewe, uvavanyo lwe-NIPT lunokuqikelela isini somntwana ongekazalwa. Abazali abaninzi banomdla wokwazi oku, akunjalo?

Ngaba kuyimfuneko ukwenza uvavanyo lwe-NIPT ngexesha lokukhulelwa?

Hayi, oku akunyanzelekanga. Esi sisigqibo somntu siqu ngokupheleleyo. Kuqhelekile ukuba nemibuzo malunga noku. Ugqirha wakho uza kukuxelela konke malunga nezinye iindlela zovavanyo lokukhulelwa ngaphambi kokukhulelwa, kuquka ne-NIPT. Zininzi izinto ezinokuchaphazela isigqibo sokuba ne-NIPT. Ukuba unengxaki yokwenza isigqibo, okanye ukuba ungathanda ukuxoxa ngolu vavanyo ngokweenkcukacha, umcebisi wezofuzo unokukuchazela ezi ndlela zovavanyo lokukhulelwa ngaphambi kokukhulelwa aze akuncede ukhethe eyona ikulungeleyo.

Oogqirha balwenza njani olu vavanyo lwe-NIPT?

Oku kulula kakhulu. Konke okwenziwa ngugqirha wakho kukuthatha isampuli yegazi kumthambo osengalweni yakho . Le sampuli yegazi ithunyelwa kwilabhoratri ukuze kuhlolwe naziphi na iingxaki kwi-DNA yomntwana.

Sonke sine-DNA ngaphakathi kwiiseli zethu. Ezi seli zihlala zahlulahlula kwaye zenza iiseli ezintsha. Xa iiseli ziqhekeka, iziqwenga ezincinci ze-DNA (iziqwenga ze-DNA) ziphelela egazini lethu. Xa ukhulelwe, inani elincinci kakhulu le-DNA yomntwana wakho lijikeleza egazini lakho. Oku kubizwa ngokuba yi-DNA engenaseli, okanye i-cfDNA . Uvavanyo lwe-NIPT lukhangela iziqwenga ze-DNA yomntwana wakho egazini lakho.

Kubalulekile ukukhumbula ukuba kuthatha malunga neeveki ezili-10 ukuba i-DNA yomntwana iqokeleleke egazini lakho. Yiyo loo nto olu vavanyo lungenziwa de kube ziiveki ezili-10 emva kokukhulelwa.

Ngaba kukho naziphi na iingozi ngovavanyo lwe-NIPT?

Uvavanyo lwe-NIPT lukhuselekile kakhulu. Akukho mngcipheko kumntwana. Kuba kufuneka kuphela igazi elincinci elivela kumama okhulelweyo. Ngoko ke akukho nto inokubangela ixhala.

Ndiza kuzifumana nini iziphumo zovavanyo lwam?

Ngamanye amaxesha kungathatha ukuya kwiiveki ezimbini ukufumana iziphumo zovavanyo lwe-NIPT.Ungahamba. Kodwa kukho amaxesha apho ufumana iziphumo kwangethuba. Ugqirha wakho ufumana iziphumo kuqala. Emva koko uya kukwazisa ngezo ziphumo.

Zithini iziphumo zovavanyo lwe-NIPT?

Ngenxa yokuba i-NIPT luvavanyo lokuhlola, ayiniki mpendulo ethi 'ewe' okanye 'hayi' yokuba umntwana wakho unesifo. Iziphumo zibonisa ukuba umntwana wakho usemngciphekweni omkhulu okanye onciphileyo wokufumana esi sifo. Iziphumo zovavanyo lwakho ngamanye amaxesha zinokuba nzima ukuziqonda. Ngoko ke ukuba awuqinisekanga, cela ugqirha wakho akucacisele.

Iilabhoratri ezininzi zinika iziphumo ezahlukeneyo kwimeko nganye eziyivavanyayo. Umzekelo, ungafumana iziphumo ezilungileyo (ezinomngcipheko ophezulu) zeTrisomy 13, kodwa iziphumo ezimbi (ezinomngcipheko omncinci) zeDown syndrome.

Kwakhona, ngamanye amaxesha kusenokungabikho ziphumo kuba akukho DNA yomntwana eyaneleyo egazini lakho, okanye iDNA yomntwana ayinakuchongwa ngokufanelekileyo. Kwimeko enjalo, unokuphinda uvavanyo lwe-NIPT. Kwimeko enjalo, ugqirha wakho unokukunika ulwalathiso olungcono.

Kuthekani ukuba iziphumo zilungile/zinomngcipheko ophezulu?

Ukuba uvavanyo lwe-NIPT lubonisa ukuba umntwana wakho usemngciphekweni wokuba nokukhubazeka kwe-chromosome, ugqirha wakho unokucebisa uvavanyo lokuxilongwa . Olu vavanyo lunokuthi ngokuqinisekileyo 'ewe' okanye 'hayi' nokuba kukho imeko ekhoyo. Olu vavanyo luquka:

• I-Amniocentesis: Oku kuquka ukukhupha inani elincinci lolwelo lwe-amniotic esibelekweni sakho. Olu vavanyo lungenziwa emva kweeveki ezili-15 zokukhulelwa.
• Isampuli yeChorionic Villus (CVS): Olu vavanyo luthatha isampuli yeeseli ezivela kwi-placenta. Le sampuli yeseli ithunyelwa kwilebhu ukuze ivavanywe. Oku kungenziwa phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa.

Kubaluleke kakhulu ukuthetha kakuhle nogqirha wakho malunga neziphumo zakho ze-NIPT uze ufumane lonke ulwazi oludingayo malunga nento omawuyenze ngokulandelayo.

Ngaba uvavanyo lwe-NIPT lunokuba luphosakele kwi-Down syndrome?

Ngenxa yokuba i-NIPT luvavanyo lokuhlola, ayichanekanga ngokupheleleyo. Yiyo loo nto sithi ibonisa umngcipheko kuphela. Ngoko ke kubalulekile ukuthetha nogqirha wakho ukuze ufunde ngakumbi ngeziphumo zakho kunye neendlela onokukhetha kuzo ezilandelayo.

Ngaba kufanelekile ukwenza uvavanyo lwe-NIPT?

Kukuwe ukuba wenze isigqibo sokuba wenze uvavanyo lokukhulelwa olufana ne-NIPT okanye olunye uvavanyo lwemfuza. Ugqirha wakho angaphendula nayiphi na imibuzo onokuba nayo. Kodwa ekugqibeleni, kukuwe ukuba wenze isigqibo sokuba ukungasebenzi kakuhle kwemfuza okanye kwe-chromosome kuya kukuchaphazela njani wena nosapho lwakho, ngokusekelwe kwimeko yakho ethile.

Le mibuzo iya kukunceda wenze isigqibo:

• Ndiza kuziva njani ukuba iziphumo zovavanyo zithi ndinayo intsholongwane?
• Ngaba ndingavuma ukwenza uvavanyo lokuxilonga olufana ne-amniocentesis okanye i-CVS?
• Ukuba ndifumanisa ukuba umntwana wam unesimo semfuza, okanye usemngciphekweni omkhulu wesifo semfuza, ngaba bendingenza naluphi na utshintsho?
• Ngaba ukwazi olu lwazi kuya kundenza ndibe lusizi okanye ndixhalabe, okanye kuya kundinceda ndilungiselele ukunyamekela umntwana?
• Ngaba ukwazi olu lwazi kuya kunceda oogqirha bam ukuba bamnyamekele ngcono umntwana wam?

Ixabisa malini uvavanyo lwe-NIPT?

Iindleko zovavanyo lwe-NIPT zinokwahluka. Uninzi lweepolisi zeinshorensi yezempilo zigubungela uninzi (okanye zonke) lweendleko. Ezinye zigubungela ubuncinane inxalenye yazo. Ngoko ke licebo elihle ukujonga nenkampani yakho yeinshorensi ngaphambi kokuba wenze uvavanyo. Ukuba awunayo i-inshorensi, okanye i-inshorensi yakho ayigubungeli uvavanyo lwe-NIPT, ungayihlawulela ngokwakho.

Ngaba i-NIPT ingenziwa kwiiveki ezili-14?

Ewe, i-NIPT ingenziwa nangaliphi na ixesha emva kweeveki ezili-10 zokukhulelwa. Oko kuthetha ukuba akukho ngxaki nokuba kwiiveki ezili-14.

Yintoni endifanele ndiyibuze ugqirha wam malunga novavanyo lwe-NIPT?

Ukuba novavanyo olufana nolwe-NIPT sisigqibo somntu ngamnye. Usenokuba nemibuzo malunga nokuba iziphumo zakho zithetha ukuthini, okanye nokuba kufuneka wenze uvavanyo lwe-NIPT na. Ungoyiki ukubuza imibuzo. Khumbula, nguwe kuphela onokugqiba ukuba yintoni ekulungeleyo wena nosapho lwakho.

Nazi ezinye zemibuzo eqhelekileyo onokuyibuza ugqirha wakho:

• Ukuba ubundim, ubungayifumana i-NIPT test?
• Ukuba uvavanyo lwam lokuhlola luthi ndinayo intsholongwane, zeziphi izinto ezilandelayo ekufuneka ndizenze?
• Ngaba ukho umcebisi wezemfuza okhoyo onokuthetha ngeendlela endinokukhetha kuzo?
• Ingaba lithini ithuba lokuba kubekho iziphumo ezingezizo ezilungileyo?

Umyalezo oya ekhaya

Kulungile, ngoko ke uvavanyo lwe-NIPT luyindlela yokuvavanya ukukhulelwa ethembekileyo kakhulu evavanya umngcipheko weengxaki ze-chromosome kumntwana ongekazalwa. Olu vavanyo lunokubonelela ngolwazi malunga nesini somntwana. Uvavanyo lwe-NIPT alufumanisi sifo - lubonisa kuphela ukuba umntwana unokuba nemeko ethile. Emva kokuba iziphumo ze-NIPT zifunyenwe, uvavanyo lokuxilonga lunokucetyiswa. Uvavanyo lwangaphambi kokuzalwa olufana ne-NIPT alunyanzelekanga, kwaye ukuba ulwenze okanye ungalwenzi kuxhomekeke kuwe ngokupheleleyo.Thetha nogqirha wakho okanye umcebisi wezemfuza malunga neenkxalabo zakho. Kubalulekile ukuqonda kakuhle ukuba uvavanyo lukhangela ntoni kunye nokuba iziphumo zithetha ukuthini, kwaye wenze isigqibo esinolwazi. Ndikunqwenelela okuhle kodwa wena nomntwana wakho!

I- NIPT, Uvavanyo lwangaphambi kokuzalwa olungangenisi ntsholongwane, uvavanyo lwangaphambi kokuzalwa, i-Down syndrome, iingxaki ze-chromosome, ukukhulelwa, i-cfDNA, impilo yomntwana