Ngexesha lokukhulelwa, enye yezona zinto zixhalabisayo kuso nasiphi na isibini kukuba yonke into ihamba kakuhle kwaye umntwana usempilweni ngokupheleleyo.
Nangona kunjalo asinakugweba ngokupheleleyo lonke utshintsho olunokwenzeka, Sineemvavanyo ezininzi ekufuneka sizenzile kwiinyanga zokuqala zokukhulelwa kwaye silawule uninzi.
Xa sifika kwiveki ye-12 yokukhulelwa, lixesha lokwenza i-ultrasound yokuqala enkulu, ukusukela ngalo mzuzu ukuya phambili siya kuba nakho ukwenza uthotho lweemvavanyo zothotho, ukukhupha utshintsho lwe-chromosomal emntwaneni.
Kwiimeko ezininzi, Uvavanyo olunobungozi ngakumbi alwenziwa, ngaphandle kokuba iimvavanyo ezingezizo ezokuhlasela ziphakamisa urhano lweengxaki.
Siza kubona iimvavanyo ukusuka kwezingaphantsi kuye kwezokuzimisela kwaye ziyangenelela kwaye ziyingozi.
Ukuhlolwa kathathu
Ilungile, kunye Iveki ye-12 ye-ultrasound, olona vavanyo lokuqala ukuba baya kusenza kuthi ngexesha lokukhulelwa ngokubhekisele kutshintsho lwe-chromosomal.
Ukutsalwa kwegazi kwenziwa kunina, apho kuchazwa khona iihomoni ezimbini, enye yazo iveliswe yiplacenta (PAPPA) kunye nenye, ihomoni yokukhulelwa (BHCG) eveliswe ngelo xesha yi-ovary.
Ixabiso lala mahomoni lidityaniswe nedatha ye-ultrasound; ubungakanani besibambo se-nuchal kunye nobukho bethambo lempumlo elusaneni.
Ubudala bukamama buye buthathelwe ingqalelo kwenziwe izilungiso ngokobunzima bukamama kwaye ukuba uyatshaya..
Ezi datha zihlalutywa ngenkqubo yekhompyuter eya kuthi isinike umngcipheko weenkcukacha manani ukuba umntwana wethu uphethe iDown and Edwards Syndrome.
Iziphumo zahlulwa njengomngcipheko osezantsi, umngcipheko ophakathi kunye nomngcipheko ophezulu. Kwimeko apho umngcipheko uphantsi, abazali abanikwa zinye iimvavanyo. Ireyithi yempazamo yi-5%.
Uvavanyo lwe-Fetal DNA kwigazi loomama
Yiyo ubuchule ngokwangoku, Uncedo lwayo olukhulu kukuba ayisiyongxaki, ukuze ingabeki ukukhulelwa emngciphekweni.
Isekwe kubungqina bobukho be-fetal DNA kwigazi lomntu okhulelweyo.
Isampulu yegazi ithathwa kunina kwaye ukufunyanwa kwe-DNA yomntwana kwenziwa, emva koko ukwakhiwa kwakhona kunye nohlalutyo lwe-DNA lwenziwa ukukhangela utshintsho kwii-chromosomes.
Inokuthenjwa kakhulu, kodwa ayizizo zonke ii-chromosomes ezihlalutyiweyo, ngokubanzi kuphela ezo zihlala zitshintshwa.
Xa kungakhange kubekho lutshintsho, ezinye iimvavanyo azikhuthazwa. kodwa ukuba isiphumo sitshintshiwe kwaye ingxaki ye-chromosomal ikrokrelwa, uvavanyo olulandelayo luyenziwa.
Amniocentesis
Ingayinto elandelayo uvavanyo oluza kwenziwa kwimeko apho ubungozi buvela nakwezinye iimvavanyo zangaphambili.
Yiyo uvavanyo olungenelelayo y kubeka umngcipheko wokwenene wokulahleka kokukhulelwa.
Yenziwe phakathi kweeveki ezili-14 ukuya kwezili-18 zokukhulelwa. Okokuqala, kwenziwa uphando nge-ultrasound apho isixa se-amniotic fluid, indawo ye-placenta kunye nemeko yosana ziya kufunyanwa.
Nje ukuba ezi paramitha zivavanywe, indawo ibekwe kude kwi-placenta kunye nomntwana, apho inani le-amniotic fluid lininzi.
Uvavanyo lwenziwa phantsi kolawulo oluqhubekayo lwe-ultrasound, Baza kusihlaba esiswini de sifike kuloo ndawo ngesixa esifanelekileyo solwelo kwaye sisezela kancinci, baya kukhupha malunga ne-20 ml yolwelo, oluya kuthi luhlolwe kamva.
Ngaphambi kokugqiba uvavanyo, kujongwa ukuba intliziyo yomntwana ibetha ngokuchanekileyo.
Kulwelo olutsaliweyo Iiseli zomntwana ziyafunyanwa kwaye zikhuliswe, ukuze kuhlaziywe izinto zemfuzaOko kukuthi, ii-chromosomes zomntwana kwaye zenze i-karyotype epheleleyo, ekhangela utshintsho kwinani okanye imilo yezi chromosomes.
Iiyure ezingama-48 ezizayo ziya kuncoma ukuphumla kwaye ukuba iqela lakho liyi-Rh negative, kubalulekile ukuba ufumane iyeza lokuthintela i-anti-D elithintela umzimba wakho ekudaleni i-Rh ukuba ngaba umntwana uyi-Rh +.
Iziphumo zokugqibela zifunyenwe malunga neentsuku ezingama-20, nangona kwiveki yokuqala ubukho botshintsho buqala ukubonakala.
Nangona ingaqinisekisi i-100% ukuba umntwana wethu usempilweni ngokupheleleyo Ukuchaneka malunga nokuqheleka okanye ukungabikho kwee-chromosomes kusondele kakhulu.
Mngcipheko
Luvavanyo olungenelelayo. Eyona ngxaki iqhelekileyo Ukuqhekeka kwengxowa yamanzi, ukopha, usulelo kwiimbumba ze-amniotic okanye ukuqhomfa.
Chorionic biopsy
Inokufumana isampulu ye-chorionic villi yokwenza i isifundo semfuza.
Yintoni i-chorionic villi?
I-chorion yimvulophu ejikeleze umbungu kwaye kamva iya kuphakamisa i- placentaI-villi yinxalenye yale mvulophu iya kuthi ichaze indlela yokuthobela i-placenta. Zikwazo ezifunxa izinto zesondlo ukondla umbungu.
Inokwenziwa kwiveki ye-10 ukuya kwi-14 kwaye ichaze ngakumbi kune-amniocenteis, ukusukela Izinto ezingaphezulu zofuzo zifunyanwa kumntwana ongekazalwa.
Ngale ndlela, i-karyotype yomntwana inokwenziwa kwaye nayo izifo zosapho ezizalwa nazo, ezinje ngecystic fibrosis okanye iChorea kaHuntington.
Inokwenziwa ngomlomo wesibeleko okanye ngokugqobhoza esiswini.
Ikwenziwa ngolawulo lwe-ultrasound kwaye ngaphambi kokuphela kovavanyo kuyaqinisekiswa ukuba inqanaba lentliziyo lembungu liqhelekile.
Kukwabalulekile ukuphumla iiyure ezingama-24 emva kovavanyo kunye nogonyo lwe-anti-D ukuba umama uyi-RH-.
Iziphumo zokugqibela zifunyenwe kwiintsuku ezingama-20, nangona ubuchule obukhethekileyo buqhele ukwenziwa ngesiphumo esikhawulezayo sokuba, kwisithuba esingaphantsi kweveki, usikhokela kubukho okanye hayi kweenguqulelo.
Imingcipheko ifana naleyo ye-amniocentesis; Ukuqhekeka kwengxowa, usulelo, ukopha, okanye ukulahleka kokukhulelwa.
ICordocentesis
Iqulethe i ukutsalwa kwegazi ngokuthe ngqo kwintambo yomntwana.
Kubalulekile ukwenza i-ultrasound apho ingcali ingafumani kuphela i-placenta, umntwana kunye nenani le-amniotic fluid, kufuneka kwakhona afumane ngqo indlela yomtya we-umbilical.
Emva koko, ukubhoboza kwenziwa esiswini, kuhlala kukho ulawulo lwe-ultrasound, de kufikelelwe kwintambo kunye negazi litsalwa emntwaneni wethu.
Inani legazi elitsalwe kancinci, malunga ne-3-4 ml, ukwenza i-karyotype yomntwana kunye nohlalutyo ukuze wazi ukuba kukho i-anemia okanye olunye utshintsho kwigazi lomntwana.
Iziphumo ziyakhawuleza kwaye malunga neentsuku ezintathu siya kwazi ukuba kukho naluphi na utshintsho kwimfuza, kunye nokuba kukho i-anemia okanye naluphina uhlobo lokuphazamiseka kwegazi ...
Yenziwe kamva, ngekhe ngaphambi kwiveki ye-18 yokukhulelwa. Iyenziwa xa ukuskena kwe-ultrasound (ngakumbi kwiveki yama-20) kubonisa utshintsho okanye kurhanelwa ukuba umama udlulise usulelo olunokuchaphazela ukukhula komntwana.