Kunzima kumntu oqhelekileyo ukuba acinge ukuba umama ozayo uya kuziva njani ukuba iziphumo ze-ultrasound okanye i-biochemical screening tests kumntwana ziye zabonisa umngcipheko wezinto ezingafaniyo zofuzo. Yaye nangona kuphela kwiimeko ezi-10 kwezi-10 zixilongwa ngolu vavanyo olunzulu, kuyimfuneko yokuxilongwa kwakhona okwesabisa abafazi abaninzi abakhulelweyo.
Ingongoma kukuba ukwenzela ukuphikisa okanye ukuqinisekisa ukuxilongwa okubi, kuyimfuneko ukuhlalutya i-karyotype ye-fetal, apho ininzi yeeklinikhi isebenzisa iindlela ezingenakunzululwazi zesampuli kwindlela yokufunda isampuli-chorionic villus, i-amniocentesis (fetal amniocentesis) kunye nesampuli yegazi (cordocentesis). Ukongeza kwinkxalabo yenkqubo ngokwayo, inokubangelwa yimiphumo emibi kakhulu, phakathi kokuphazamisa ukukhulelwa. Oku kubangela ukuba abanye besetyhini bayeke ukuxilongwa kwaye baziveze ngokoxinzelelo kwixesha lokunyuka, elingenakuchaphazela nangona umntwana ophilileyo.
Kutheni uhlalutyo lwe-karyotype lomntwana?
Kwi-diagnostic emva kokuzalwa kwe-11 yeveki yokukhulelwa, i-ultrasound imiselwe. Kanye kunye ne-ultrasound, iimpawu ze-biochemical ziphandwa kwakhona. Injongo yale nkqubo iwukucacisa iqela elijongene nobungozi. Nangona kunjalo, ukuxilongwa okunjalo kunokubonisa kuphela ipesenti yeyona nto inokuthi igule izifo ze-genetic kwaye akunakwenzeka ukubeka ingxaki yokuxilongwa kwiziphumo zayo. Ngoncedo olucacisiweyo lwe-karyotype ye-fetus, kunokwenzeka ukucacisa ngezinga eliphezulu lokunokwenzeka oku kulandelelaniswa kwe-chromosomal elandelayo, ekwenzeni ukwelashwa kuthiwa yi-syndromes:
- Phantsi;
- Edwards;
- Patau;
- Shereshevsky-Turner;
- Klinefelter.
Indlela engabonakaliyo yokuxilongwa kwe-chromosomal pathologies
Ekupheleni kwekhulu leminyaka elidlulileyo, i-DNA ye-fetal yafunyanwa kwigazi lomfazi okhulelweyo. Nangona kunjalo, kwiminyaka engama-20 kuphela kamva, ngokuphuhliswa kwe-nanotechnology, ukuhlolwa kwe-DNA engeyiyo engavumelekanga kwakusetyenziswa kwiyeza. Ingundoqo yale ndlela iquka ukuhlukanisa i-DNA engaphezulu kwe-DNA yomntwana kunye nomama ovela kwigazi elixhamlayo lomama kwaye emva koko uxilonga ukuba ubukhona be-chromosomal engafanelekanga. Olu phofu lubizwa ngokuba yi-diagnosis ye-trisomy enkulu okanye uvavanyo lwe-DOT.
Inzuzo ephambili yolu vavanyo lwe-DOT yokhuseleko ngokupheleleyo kumfazi kunye nomntwana wakhe. Ukongezelela, inokwenziwa nanini na emva kweveki ye-10 yokukhulelwa, kwaye iziphumo ziya kuba zilungele kwisithuba seentsuku ezili-12 ukusuka kwi-99.7% yokuzithemba. Ukuxilongwa okunje kuboniswe kubasetyhini abasengozini yokuxilongwa kokubeleka kokuqala. Iibhoratri ezimbalwa kuphela eChina, e-US naseRashiya zisebenzisa le ndlela kwindlela yokwenza amayeza. Elizweni lethu, uvavanyo lwe-DOT lwenziwa kuphela kwibhubhoratri ye "Genoanalyst", eneengcali zabo abaphuhlisi bezobuchwepheshe. Ukuze kuqinisekiswe ukufumaneka kohlalutyo olunjalo lwabasetyhini ukusuka kwiphina indawo yaseRashiya, ukuqoqwa kwegazi kunokwenziwa kwiziko lezonyango elisondeleyo, emva koko i-biomaterial ihanjiswa eMoscow malunga novavanyo lwe-DOT ngokusebenzisa inkonzo yeposi yeenkonzo ezikhethekileyo. Unakekele impilo yengane yakho ngaphambi kokuba azalwe. Impilo kuwe nabantwana bakho kwikamva!