Ukuhlola i-Down Syndrome ngexesha lokukhulelwa

Iingcamango ezingezantsi kweSilly Screening Testing

I-Concept Screening ye-Down Syndrome Ngethuba lokukhulelwa

Inani leenketho zokujonga i- Down syndrome lenyuke ngokuphawulekayo kwiminyaka embalwa edlulileyo. Ngaphambi kokuba unokwenza isigqibo malunga nokuvavanywa, ukuba kukho na, kulungile kuwe, kubalulekile ukuqonda imbono emva kokuvavanywa kweemvavanyo.

Ukuphonononga kunye nokuhlolwa kweemvavanyo kungaba yimigqaliselo enzima yokuba abantu baqonde.

Sisetyenziselwa iimvavanyo zonyango esinika impendulo, kodwa ngokuvavanya iimvavanyo, endaweni yokuphendula, sithola uqikelelo lomngcipheko. Umzekelo, iimvavanyo zokuphonononga akunakukuxelela ngokuqinisekileyo ukuba umntwana wakho unayo i-Down syndrome, unokukunika uqikelelo lomngcipheko wakho wokuba usana olune-Down syndrome. Ngokusekelwe kulo mngcipheko mngcipheko kunye nokucwangciswa komngcipheko okhethwe ngaphambili, ukukhulelwa kwakho kuya kufakwa njengesicatshulwa esibi (inqanaba eliphantsi) okanye i-screen positive (inobungozi obuphezulu). Ukuhlolisisa ngokukodwa ukuhlukanisa abantu zibe ngabantu ababini - abo babonwa njengengozi (ininzi) kunye nalabo abonwa njengengozi enkulu (incinci).

Oku kunokuvakala kunzima kodwa ke ndicinga ukuba ukujonga umzekelo olula kunceda.

Umzekelo wovavanyo lokuhlola

Uvavanyo olulodwa olulula lokuhlola ukuhlola umngcipheko womama wokuba nomntwana onesifo se-Down syndrome nje ukucela umama ukuba abe ngumdala wakhe. Ngokusekelwe kwimpendulo yakhe kunye nomngcipheko-mngcipheko, oomama bangabahlukeneyo ngamacandelo amabini-abo bathathwa njengengozi ephantsi (i-screen negative) kunye nabo babonwa njengengozi enkulu (i-screen positive).

Ukuhlukanisa oomama abanomfanekiso osesikweni oomama abangenakucingekileyo, masenze sengathi umntu onomngcipheko ongaphezu kwe-1 ngo-200 (okanye isigxina sepesenti e-1) uthathwa njengesikrini esihle. Lo mngcipheko we-200 ngowona mngcipheko wethu.

Ngoku, masibuze ababini oomama-babe ngamaxesha abo. Umama A uneminyaka engama-30 ubudala kwaye usekelwe kwimiba yakhe yodwa, umngcipheko wakhe wokuba nomntwana one-Down syndrome ngowoku-1 ngo-900.

Uthiwa "yinkcenkcazo yesikrini" ekubeni ingozi yakhe ingaphantsi komngcipheko we-cut-off of 1 kwi-200. Ngoko umngcipheko wakhe uphantsi kwaye akayi kunikwa nayiphi na uvavanyo lokulandela. Kodwa, kwaye oku kukukhulu kodwa, umngcipheko wakhe awunjalo-ngowona-1 ngo-900. Oko kuthetha ukuba ukuba ama-mama aneminyaka engama-30 ubudala angama-30 abekho egumbini, umntu uya kuba nosana nge-Down syndrome nangona "ukuvavanya" kwethu kuthiwa yinkcenkceshe yesikrini (ingozi ephantsi!)

Ngoku makhe sibuze umama wakhe ubudala. Umama B uneminyaka engama-38 kwaye isekelwe kwiminyaka yobudala yodwa, umngcipheko wakhe wokuba nomntwana one-Down syndrome ngowona-1 kwi-180 (okanye umncinci omncinane kunomngcipheko we-1 kwi-200). Ekubeni umngcipheko wakhe ukhulu kunowoku-1 ngowama-200, uthathwa ngokuba "yinkcenkcazo" okanye ingozi enkulu. Ngoku ngokucacileyo, umngcipheko wakhe usengaphantsi kwesigamu sepesenti enye (okanye ngaphezulu kweepesenti ezingama-99 ukuba umntwana wakhe akanalo i-Down syndrome) kodwa ngovavanyo lwethu, umphumo wakhe "uyisikrini esihle". , "Kusenokwenzeka ukuba umntwana wakhe akanalo i-Down syndrome. Nangona kunjalo, ngokusekelwe "engozini" yakhe, uya kufundiswa ukuhlola ukulandelelanisa ukuhlola ukuba umntwana unayo i-Down syndrome. Uninzi lwabasetyhini, kunye nefuthe elibonakalayo lokuhlola, liya kuba neentsana ezingenayo i-Down syndrome.

Uyabona ke ke, ukuba ukufumana isiqhamo "esihle" kuyakuphakamisa uxhalaba lwakho.

Iingenelelo kunye neziNzuzo zovavanyo lweSkrini

Nangona iimvavanyo zokuhlola zangaphambi kokubeletha azikuxeleli ngokuqinisekileyo ngamakhromosomes omntwana wakho, zineentlobo ezintle xa kuthelekiswa nokuvavanya uvavanyo njenge-amniocentesis okanye i-chorionic villi sampling (CVS). Kwenye, akukho mngcipheko wokukhulelwa. Uninzi lweemvavanyo zokuhlola iingazi zegazi okanye i-ultrasounds okanye ukudibanisa kokubili, ngoko ke akukho mngcipheko wokukhulelwa kwesisu ohambelana nabo njengoko kukho i-amniocentesis okanye i-CVS. Ukungalungi kukuba abayikunika impendulo eqinileyo, banokukunika uqikelelo lomngcipheko wakho.

Ngokuqhelekileyo oku kuqikelelwa kuphantsi (i-screen negative) kwaye abaninzi abafazi bafumana oku kuqinisekisayo. Nangona kunjalo, ukuba isiphumo sakho sokubhenca sithathwa njengesiphumo esihle, oku kunokubangela ukuba uxhalabise kakhulu nangona kunokwenzeka ukuba umntwana wakho akanalo i-Down syndrome. Ukuba iimvavanyo zakho zithathwa njengesicatshulwa esihle, uya kujongana nokukhetha ngokuphathelele uvavanyo lokuhlola.

Amanyathelo ekwenzeni isigqibo malunga nokuvavanywa kwangaphambi kokubeletha

Njengoko ucinga ngezigqibo zakho, thabatha umzuzwana ukuhamba ngala ma nyathelo, ucinga ukuba isinyathelo esilandelayo siya kuba yintoni na uvavanyo olukhethayo ukuba lunalo:

Umxholo ophantsi kokuvavanywa kwangaphambi kokubeleka kwe-Down Syndrome

Isigqibo sokuvavanywa kokubeleka ngexesha lokukhulelwa ngumntu. Uninzi lweemvavanyo zoluhlolo lubanika abazali ithuba lokuqinisekisa. Nangona kunjalo, xa ukuvavanya ukuvavanya kwimeko efanelekileyo, kunokuxhalabisa. Ukuvavanya ukuhlolwa kokuhlola kuyatholakala, kodwa kunobungozi obuchaphazelekayo kwaye kuthatha ixesha lokufumana iziphumo, ezinokuba nzima kubazali abathile. Xa wenza isigqibo malunga naluphi na uhlobo lokuvavanywa kokubeleka ngexesha lokukhulelwa, kubalulekile ukuqwalasela ukuba iziphumo zolu vavanyo zithetha ntoni kuwe nokuba uza kwenza ntoni ngale nkcazelo.

Imithombo:

Halliday, J., Messerlian, G., noG. Palomaki. Imfundo yesineke: Ngaba kufuneka ndibe novavanyo lokuhlola i-Down syndrome ngexesha lokukhulelwa? (Ngaphandle kweZiseko). UpToDate . Ukuhlaziywa ngo-08/10/15.