Ungathanda ukwazi ngempilo yomntwana wakho kwangethuba? Masithethe ngoVavanyo lweMfuzo ngaphambi kokuzalwa!

Xa ulindele ukuba ngumama, umnqweno wakho omkhulu kukuba nomntwana osempilweni, akunjalo? Ngoko ke, namhlanje siza kuthetha ngeendlela zovavanyo ezikhethekileyo ezinokukunceda wazi kwangaphambili ukuba umntwana uneengxaki zofuzo okanye iingxaki zokuzalwa ngelixa esesesibelekweni. Ezi sizibiza ngokuba yi-'(Prenatal Genetic Testing)'. Ezi vavanyo azifanele zenziwe ngumntu wonke, kodwa kubaluleke kakhulu ukuba uqaphele oku.

Yintoni le (Uvavanyo lweMfuzo ngaphambi kokuzalwa)?

Ngamafutshane, ezi ziimvavanyo ezinokubonisa ukuba umntwana wakho ongekazalwa unesifo sofuzo okanye isiphene sokuzalwa. Ngokungafaniyo novavanyo lohlobo lwegazi, i-hemoglobin, kunye novavanyo lweswekile oluhlala lufunyanwa ngexesha lokukhulelwa, ezi mvavanyo zofuzo azifuneki kwaye zingenziwa kuphela ukuba uyafuna . Ungathetha nogqirha wakho ngale nto uze ugqibe ukuba loluphi uvavanyo olukulungeleyo.

Yonke into emzimbeni wethu ilawulwa ziijini zethu. Ezi jini zigcinwa kwizinto ezibizwa ngokuba zii-chromosomes. Ngoko ke, ngamanye amaxesha, ukuba kukho naluphi na utshintsho okanye ukusilela kwezi jini okanye ii-chromosomes, izifo ezahlukeneyo zinokwenzeka. Sizibiza ngokuba ziimeko ezikhoyo ekuzalweni ``(Iingxaki zokuzalwa)''. Ezi mvavanyo zejini zinokuchonga ezinye zezi meko kwanangaphambi kokuba umntwana azalwe.

Ziziphi ezi ntlobo zimbini zovavanyo? (Uvavanyo loHlolo kunye novavanyo lokuxilonga)

Kulungile, masibone ngoku. Kukho iintlobo ezimbini eziphambili "zoVavanyo lweMfuzo ngaphambi kokuzalwa".

1. Uvavanyo lokuhlola: Olu vavanyo lusetyenziselwa ukufumanisa ukuba umntwana wakho usemngciphekweni wokuba nesifo esithile semfuza. Oku akuthethi ukuba umntwana unesifo. Nangona kunjalo, ukuba umngcipheko uphezulu, ugqirha wakho uza kukuxelela into omawuyenze ngokulandelayo.

2. Uvavanyo lokuxilonga: Olu vavanyo lunokuqinisekisa ukuba umntwana unesimo semfuza okanye akunjalo. Olu vavanyo ludla ngokwenziwa kuphela xa uvavanyo lovavanyo lubonisa umngcipheko, okanye ukuba kukho umngcipheko ophezulu ngenxa yesinye isizathu.

Ngoku masithethe ngeentlobo nganye kwezi ngokweenkcukacha ezithe vetshe.

Masiqale sijonge 'iiMvavanyo zoHlolo' (iiMvavanyo ezikhangela umngcipheko wosana olungekazalwa)

Eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba olu vavanyo lokuhlola aluze luqinisekise ukuba kukho imeko yemfuza. Nokuba iziphumo aziqhelekanga, akuthethi ukuba umntwana ngokuqinisekileyo uya kuba nale meko. Kuthetha kuphela ukuba kukho umngcipheko othile xa kuthelekiswa nezinye. Ugqirha wakho unokukuchazela ezi ziphumo aze akuchazele amanyathelo omele uwathathe ngokulandelayo. Kwezinye iimeko, banokucebisa novavanyo lokuxilonga.

Kukho iintlobo ezahlukeneyo zovavanyo lokuhlola:

1. Uvavanyo Lokuthwala Isifo - Ngaba unesifo esinokudluliselwa kumntwana wakho?

Olu luvavanyo lwegazi olunokuthatyathwa nguwe kunye neqabane lakho. Lukhangela iimeko ze-single-gene ezinokubangela iimeko zempilo ezinzulu ezinokuthi zifunyanwe ngumntwana wakho. Umzekelo, lunokufumanisa iimeko ezifana ne-Cystic Fibrosis, iSickle Cell Disease, kunye ne-Spinal Muscular Atrophy.

Umzekelo, ukuba uvavanyo lwakho lwegazi lubonisa ukuba ungumthwali womngcipheko othile wezakhi zofuzo, kubaluleke kakhulu ukuba iqabane lakho nalo livavanywe. Kuba, ukuba bobabini abazali bathwala umngcipheko ofanayo wezakhi zofuzo, umntwana usenokuba nesifo esibi kakhulu. Olu vavanyo "lokuHlola abathwali" lwenziwa kube kanye ebomini.

2. Ukuhlolwa kwenani elingaqhelekanga leekhromozomu

Njengoko sele sitshilo, sizuza iichromosomes ngababini - enye ivela kumama wethu kwaye enye ivela kutata wethu. Ngamanye amaxesha, ngeli xesha lenkqubo yokuchumisa, iimpazamo zendalo zinokwenzeka. Emva koko iindawo zesibini sechromosome zinokungabikho okanye zongezwe. Umzekelo, ``Down Syndrome`` (ubukho bechromosome eyongezelelweyo 21) kunye ``Turner's Syndrome`` (ubukho bechromosome X engekhoyo) zibangelwa yile nto. Iziphumo zezi mvavanyo zinokwahluka ukusuka kokukhulelwa ukuya kolunye.

Kukho iintlobo ezahlukeneyo zovavanyo:

• Uvavanyo lwe-DNA yosana olungenaseli: Oku kukwabizwa ngokuba yi-`(Non-Invasive Prenatal Testing)` okanye `(NIPT)`. Oku kuquka ukuthatha iziqwenga ezincinci ze-DNA yosana lwakho (`fetal DNA`) egazini lakho kwaye ukhangele ezinye izinto eziqhelekileyo ze-chromosome. Nangona kunjalo, ngenxa yokuba ubungakanani be-DNA yosana buncinci kakhulu, olu vavanyo lunokwenziwa kuphela emva kweeveki ezili-10 zokukhulelwa.
• Ukuhlolwa kwe-serum: Olu luvavanyo oluthatha isampuli yegazi lakho. Nangona kunjalo, alujongi ngqo i-DNA yomntwana. Endaweni yoko, luhlalutya amanqanaba eeproteni ezahlukeneyo egazini lakho ukuze kuqinisekiswe umngcipheko wakho wokufumana ukungaqheleki kwe-chromosome. Imizekelo yale mizekelo ibandakanya `(Ukuhlolwa ngokulandelanayo)`, `(Ukuhlolwa kwe-Quad)` kunye `(Ukuhlolwa kwe-serum kwi-First Trimester)`. Ngalunye lwezi vavanyo kufuneka lwenziwe ngexesha elithile ngexesha lokukhulelwa, ngoko ke ngumbono olungileyo ukubuza ugqirha wakho ukuba loluphi olufanelekileyo kuwe. Olu vavanyo lunokwenziwa emva kweeveki ezili-11 zokukhulelwa.

3. Ukuhlolwa kweziphene zomzimba

Ngamanye amaxesha, ukungaqheleki kweekhromosome kunokubangela utshintsho kwisakhiwo somzimba womntwana. Okanye, nokuba iikhromosome ziqhelekile, umntwana usenokuba nesiphene somzimba. Uvavanyo lwe-ultrasound kunye negazi olwenziwe ngexesha lokukhulelwa lunokunika umbono womngcipheko womntwana wokufumana ezi ngxaki zomzimba nokuba zibangelwa zizizathu zemfuza.

• I-Nuchal Translucency (i-NT scan):Olu vavanyo lwe-ultrasound lulinganisa ubukhulu besikhumba esingasemva kwentamo yomntwana ongekazalwa. Ukuba obu bukhulu buphezulu kakhulu, bunokubonisa umngcipheko wokuphazamiseka kwe-chromosome, kunye neengxaki zomzimba ezifana nophuhliso olungaqhelekanga lwentliziyo yomntwana. Olu vavanyo lwe-ultrasound lwenziwa phakathi kweeveki ezili-11 ukuya kwezili-14 zokukhulelwa.
• Uvavanyo lwe-AFP (uvavanyo lwe-serum yomama): Kuthathwa isampulu yegazi lakho kwaye kulinganiswa inqanaba leproteni ebizwa ngokuba yi-AFP (Alpha-fetoprotein). Ukuba eli nqanaba liphezulu kakhulu, linokubonisa ukuba kunokubakho iingxaki zomzimba esiswini somntwana, ebusweni, okanye emgogodleni. Oku kwenziwa phakathi kweeveki ezili-15 nezingama-22.
• Isikrini se-Quad: Oku kulinganisa amanqanaba ezinto ezine egazini lakho ukuze kuchongwe umngcipheko wokuba umntwana wakho abe nokukhubazeka kwe-chromosome kunye neziphene ze-neural tube. Oku kukwabizwa ngokuba yi-"Multiple Marker Screen". Oku kwenziwa phakathi kweeveki ezili-15 ukuya kwezingama-22.
• Iskeni yokwakheka komzimba wemveku: Le yinto abantu abaninzi abayaziyo njenge-"Anomaly Scan". Kule nto, kusetyenziswa i-ultrasound ukujonga izakhiwo zomzimba womntwana, kuquka ingqondo ekhulayo, amathambo, intliziyo, izintso, isisu, ubuso kunye namalungu omzimba. Le ultrasound idla ngokwenziwa phakathi kweeveki ezili-18 ukuya kwezingama-20 zokukhulelwa.

Kubalulekile: Kwakhona, olu vavanyo lokuhlola lubonisa kuphela ukuba kukho imeko enokwenzeka . Alubonisi ngokuqinisekileyo ukuba kukho isifo.

Zithini 'iiMvavanyo zokuxilonga'? (Uvavanyo lokufumanisa ukuba kukho isifo na)

Uvavanyo lokuxilonga lunokuqinisekisa ukuba umntwana unesimo semfuza. Olu vavanyo lwenziwa kuphela ukuba iziphumo zovavanyo lovavanyo aziqhelekanga, okanye ukuba unezinye izizathu zokucinga ukuba umntwana wakho usemngciphekweni omkhulu wokuba nemeko yemfuza (umzekelo, umntu kusapho lwakho unaso esi simo).

Iindidi ezimbini eziqhelekileyo zovavanyo lokuxilonga yi `(Amniocentesis)` kunye `(Chorionic Villus Sampling / CVS)`.

• I-Amniocentesis: Kolu vavanyo, ugqirha ufaka inaliti encinci eluswini lwakho esibelekweni sakho aze athathe isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana wakho. Olu vavanyo lwenziwa phakathi kweeveki ezili-16 nezingama-20 zokukhulelwa.
• Isampuli yeChorionic Villus (CVS): Kolu vavanyo, ugqirha ufaka inaliti esibelekweni aze athathe isampuli encinci yeeseli ezivela kwi-placenta. Ugqirha uya kugqiba ukuba afake inaliti esiswini okanye kwilungu lobufazi, kuxhomekeke ekubeni yeyiphi ekhuselekileyo. Uvavanyo lwe-CVS lwenziwa phakathi kweeveki ezili-11 nele-13 zokukhulelwa.

Emva koko iisampulu zithunyelwa kwilabhoratri ukuze zihlalutywe. Ilabhoratri ingenza uvavanyo olukhethekileyo olufana neFluorescence In Situ Hybridization (FISH), iKaryotyping eqhelekileyo, kunye neMicroarray. Ezinye iimvavanyo zokuxilonga zinokubonelela ngeziphumo kwiiyure ezingama-72, ngelixa ezinye zinokuthatha ngaphezulu kweeveki ezimbini.

Ngaba kufuneka kwenziwe olu vavanyo lwemfuza? Ngubani omele enze olu vavanyo?

Ukuba uza kuyenza okanye awuyi kuyenza le "Prenatal Genetic Test" sisigqibo sakho sobuqu. Ukuba awuqinisekanga, ungabuza ugqirha wakho ukuba ucebisa ntoni. Iziphumo zezi mvavanyo zinokubonelela ngolwazi olubalulekileyo malunga nempilo yosana. Ngokwesiqhelo, bonke abafazi abakhulelweyo bayaziswa ngezi mvavanyo zovavanyo lwe-genetic njengenxalenye yokhathalelo lwabo lwangaphambi kokuzalwa.

Ezinye zezizathu zokuba ezinye iintsapho zigqibe ekubeni zenze uvavanyo lokuxilonga zezi:

• Ukufumana iziphumo ezingaqhelekanga kuvavanyo lokuhlolwa.
• Ukuba nembali yosapho enemeko yemfuza.
• Ukukhulelwa okungaphezulu kweminyaka engama-35 ubudala.
• Ukuba ukhe waphunyelwa sisisu ngaphambili okanye wazala umntwana oswelekileyo.

Ngaba kuyimfuneko ukwenza ezi mvavanyo ngexesha lokukhulelwa?

Hayi, ayimfuneko. Sisigqibo esisekelwe kwiinkolelo zakho kunye nembali yakho yezonyango. Abanye abazali bathanda ukwazi kwangaphambili ukuba umntwana wabo uza kuzalwa enesimo esithile na. Oku kubavumela ukuba bacebe ukunyanyekelwa komntwana wabo kwangaphambili. Ngelishwa, ezinye iintsapho zinokuba neziphumo ezibuhlungu kakhulu, kwaye kusenokufuneka benze isigqibo esinzima sokuba baqhubeke nokukhulelwa na. Ngoko ke, ukuba baya kwenza olu vavanyo okanye uvavanyo lokuxilonga okanye ukungazi kuxhomekeke kuwe nakugqirha wakho.

Zenziwa njani ezi mvavanyo?

Uninzi lovavanyo lwe-`(Prenatal Genetic Screening)` lwenziwa kwisampulu yegazi evela kumama okhulelweyo. Ukuba iziphumo zovavanyo lovavanyo zibonisa ukuba kukho umngcipheko okhulayo wokuba umntwana azalwe enesiphako, ugqirha unokwenza uvavanyo olunzulu ngakumbi (``invasive tests``) ukuze abone iimeko ezithile. Olu vavanyo lunzulu lokuxilongwa yi-``(Amniocentesis)`` kunye ne-``(CVS)``.

Zeziphi iimvavanyo ezenziwa kwiiveki ezahlukeneyo zokukhulelwa?

Le yingxaki nakubantu abaninzi.

Uvavanyo lweTrimester yokuqala (kwiinyanga ezi-3 zokuqala)

Ukuhlolwa kwe-serum kwi-trimester yokuqala, ukuhlolwa kwe-DNA ye-fetal engenaseli (NIPT), kunye ne-NT ultrasound zonke zenziwa phakathi kweeveki ezili-11 ukuya kwezili-14 zokukhulelwa. Ngokudibanisa ulwazi oluvela kwezi mvavanyo zegazi kunye ne-ultrasound, unokufumana umbono womngcipheko weengxaki eziqhelekileyo ze-chromosome ezifana ne-Down Syndrome.

``Ukuhlolwa kwabathwali`` kungenziwa nangaliphi na ixesha ngexesha lokukhulelwa kwakho, nokuba sele ukhulelwe iiveki ezi-6-10. Ezi mvavanyo zikhangela iimeko ``zejini enye`` onokuzidlulisela kumntwana wakho. Nangona kunjalo, ``Ukuhlolwa kwabathwali``` akunakubona iimeko ezibangelwa kukungasebenzi kakuhle kwe-chromosome, njenge ``Down Syndrome``.

Uvavanyo lwe-DNA ye-fetus olungenaseli (NIPT) luvavanya i-DNA yomntwana egazini lakho. Lukhangela iimeko ze-chromosome ezifana ne-Down Syndrome, i-Trisomy 13, kunye ne-Trisomy 18. Olu vavanyo lunokwenziwa kwangethuba kwiiveki ezili-10 zokukhulelwa, okanye kamva ekukhulelweni.

Uvavanyo lweTrimester yesiBini (phakathi kweenyanga ezi-4-6)

Uvavanyo lwekota yesibini lwenziwa phakathi kweeveki ezili-15 nezingama-22 zokukhulelwa. Uvavanyo lwegazi oluqhutywa ngeli xesha yi-`(Maternal Serum Alpha-Fetoprotein / AFP screen)` kunye ne-`(Quad screen)`. I-`(Quad screen)` ifumana igama layo kuba ilinganisa iintlobo ezine zeeproteni (`Alpha-fetoprotein / AFP`, `Estriol`, `Human Chorionic Gonadotropin / hCG` kunye ne-`Inhibin-A`). Olu vavanyo lunceda ugqirha wakho ukuba afumanise ukuba umntwana wakho usemngciphekweni omkhulu wokuba neempazamo zemfuza okanye zomzimba. `(Fetal anatomy ultrasound)` (Anomaly scan) yenye indlela yovavanyo enokujonga iimpazamo zemfuza okanye zomzimba kumntwana wakho.

Ngaba olu vavanyo 'lokuhlola' izifo ezifana neDown Syndrome lunokuba luphosakele?

Ewe, kusoloko kukho ithuba lokuba uvavanyo lokuhlola lungaba luphosakele. Oko kukuthi, ngamanye amaxesha kunokubakho umngcipheko nangona kusithiwa akukho mngcipheko, kwaye ngamanye amaxesha kunokubakho umngcipheko nangona kusithiwa akukho mngcipheko (oku kubizwa ngokuba yi-'false positive' kunye ne-'false negative'). Ugqirha wakho unokuchaza amazinga okuchaneka ('amazinga okuchaneka') kwalo naluphi na uvavanyo lokuhlola olunalo ngexesha lokukhulelwa.

Ngaba kukho naziphi na iingozi ngezi mvavanyo?

Uvavanyo lokuhlola (ukuthatha isampuli yegazi) aluthathwa njengolunobungozi. Nangona kunjalo, ukuba uya kuvavanyo lokuxilonga olufana ne-"Amniocentesis" okanye "CVS", kukho umngcipheko omncinci kakhulu . Ezo ngozi zingusulelo, ukopha, okanye ukuphuphuma kwesisu. Yiyo loo nto olu vavanyo lokuxilonga lungenziwa kuye wonke umntu ngokubanzi "Uvavanyo lweMfuzo lwangaphambi kokuzalwa", kodwa kuphela kwabo bakrokrelayo ngakumbi.

Kuthatha ixesha elingakanani ukuba iziphumo zibuye? Zithetha ukuthini iziphumo?

Uvavanyo lokuhlola luthatha iintsuku ezimbalwa ukufumana iziphumo. Uvavanyo lokuchonga lungathatha iintsuku ezimbalwa ukuya kwiiveki ezimbalwa ukufumana iziphumo. Uninzi lwexesha, ezi sampuli zithunyelwa kwilebhu ukuze zivavanywe. Ugqirha wakho uza kufumana iziphumo kuqala, aze emva koko akuxelele iziphumo.

Iziphumo zovavanyo lokuhlola zibonisa kuphela umngcipheko. Azikuxeleli ngokuqinisekileyo ukuba umntwana unesimo semfuza.

• Ukuba kufunyenwe iziphumo ezilungileyo , oko kuthetha ukuba umntwana usemngciphekweni omkhulu wokufumana eso sifo kunabantu ngokubanzi.
• Ukuba kufunyenwe iziphumo ezingezizo , oko kuthetha ukuba umntwana usemngciphekweni omncinci wokufumana eso sifo kunabantu ngokubanzi.

Ugqirha wakho unokucebisa uvavanyo lokuxilonga, olufana ne-CVS okanye i-amniocentesis. Okanye, banokukuthumela kumcebisi wezemfuza, ogxile ekukhulelweni okunobungozi obukhulu kunye neemeko zemfuza. Ungoyiki ukuthetha noogqirha bakho malunga nokuba iziphumo zovavanyo lwakho zithetha ukuthini kunye neengozi kunye neenzuzo zovavanyo lokuxilonga.

Ngaba isini somntwana sinokuchongwa ngezi mvavanyo?

Ukongeza ekunikeni ulwazi malunga nomngcipheko weemeko zemfuza, uvavanyo lwe-"Cell-free DNA screening / NIPT" lunokubonelela ngolwazi malunga nesini somntwana. I-"Ultrasound" ngamanye amaxesha inokumisela isini. Nangona kunjalo, oku kuluncedo olongezelelweyo, kungekhona isizathu esiphambili sovavanyo.

Ndingayibuza ntoni ugqirha malunga nolu vavanyo lwemfuza?

Uvavanyo lokuhlola nokuhlola ngexesha lokukhulelwa zizigqibo zobuqu. Usenokuba nemibuzo malunga nokuba loluphi uvavanyo lokuhlola ekufuneka ulwenze okanye ukuba iziphumo zovavanyo lwakho zithetha ukuthini. Ungoyiki ukubuza imibuzo. Khumbula, nguwe nosapho lwakho kuphela abanokugqiba indlela yokujongana neziphumo ezilungileyo ezivela kuzo zombini ezi ntlobo zovavanyo lwemfuza.

Eminye imibuzo eqhelekileyo onokuyibuza:

• "Zeziphi iimvavanyo zovavanyo ozicebisayo ngokusekelwe kwimbali yam yempilo?"
• "Ukuba iziphumo zovavanyo lwam lokuhlolwa zilungile, zeziphi amanyathelo alandelayo?"
• "Ngaba ezi mvavanyo zofuzo zingamlimaza umntwana?"
• "Zithini amathuba okuba kubekho iziphumo ezingezizo?"

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Akukho mpendulo ichanekileyo okanye engalunganga kwi-Prenatal Genetic Testing. Isigqibo sixhomekeke kuwe nakusapho lwakho. Ukuba unenkxalabo malunga nezi mvavanyo, okanye ukuba ufuna ukuqonda ukuba uvavanyo ngalunye luza kujonge ntoni, thetha nogqirha wakho. Angaxoxa nawe ngeengozi kunye neenzuzo zovavanyo ngalunye lwe-genetic aze akuncede wenze isigqibo esifanelekileyo kuwe nakusapho lwakho.

Khumbula, uninzi lweentsana luzalwa lusempilweni. Nangona kunjalo, kubalulekile ukuqonda ukuba zeziphi iindlela onokukhetha kuzo kunye novavanyo lwemfuza olufumanekayo kuwe. Ugqirha wakho ngumcebisi wakho ongcono kolu hambo.

Ukukhulelwa , uvavanyo lwemfuza, impilo yomntwana, uvavanyo losana olungekazalwa, uvavanyo lokuhlolwa, uvavanyo lokuxilonga, i-Down syndrome, i-ultrasound