I-Concepts Down Down Syndrome Ukuhlola Izivivinyo
I-Concept of Screening for Down Syndrome Ngesikhathi sokukhulelwa
Inombolo yokukhethwa kokuhlola kwe- Down syndrome iye yanda ngokuphawulekayo eminyakeni embalwa edlule. Ngaphambi kokuba wenze isinqumo mayelana nokuthi ukuhlolwa, uma kukhona, kulungile kuwe, kubalulekile ukuqonda umqondo ngemuva kokuhlolwa kokuhlola.
Ukuhlolwa nokuhlola ukuhlolwa kungaba imibono elukhuni ukuze abantu baqonde.
Sisetshenziselwa ukuhlolwa kwezokwelapha esinikeza impendulo, kodwa ngokuhlola izivivinyo, esikhundleni sempendulo, sithola ukulinganisela kwengozi. Isibonelo, ukuhlolwa kokuhlola akukwazi ukukutshela ngokuqinisekile ukuthi ingane yakho ine-Down syndrome, ingakunika kuphela ukulinganisela kwengozi yakho yokuba nengane ene-Down syndrome. Ngokusekelwe kulolu cwaningo lokubeka ingozi kanye nesimo esinqunyiwe esinqunyiwe, ukukhulelwa kwakho kuzobekwa eceleni njengesikrini esingekho ngaphansi kwesikrini (esengozini esincane) noma esibukweni esiphezulu (engozini enkulu). Ukuhlolisisa ngokuyinhloko kuhlukanisa abantu babe abantu ababili - labo abathathwa njengengozi enkulu (iningi) nalabo abhekwa njengengozi enkulu (abambalwa).
Lokhu kungase kuzwakale kuyinkimbinkimbi kodwa ngicabanga ukuthi ukubuka isibonelo esilula kuzosiza.
Isibonelo Sokuhlola Ukuhlola
Ukuhlolwa okulula okulula okuhlolisisa ingozi yomama yokuba nengane ene-Down syndrome imane nje icele umama ukuba abe ngumdala wakhe. Ngokusekelwe impendulo yakhe kanye ne-risk-cutoff, omama-to-be bangahlukaniswa ngamaqembu amabili-labo abhekwa njengengozi ephansi (isikrini esingenalutho) nalabo abhekwa njengengozi enkulu (screen positive).
Ukuze uhlukanise omama abanobuhle be-screen kusuka kumama omama abangenayo kwesikrini, ake sithi sengathi ubani obeka engozini enkulu ngaphezu kuka-1 ku-200 (noma isigamu sezingxenye ezingu-1) kubhekwe njengesikrini esihle. Le ngozi engama-200 iyingozi yethu yokuqeda ingozi.
Manje, ake sibuze omama ababili-ukuba babe iminyaka yabo. Umama A uneminyaka engu-30 ubudala futhi usekelwe ebudala bakhe, ingozi yakhe yokuba nengane ene-Down syndrome ingu-1 ngo-900.
Ubhekwa njengengcindezi yesikrini ngoba ingozi yakhe ingaphansi kweengozi yethu yokunciphisa i-1 ngo-200. Ngakho ingozi yakhe iphansi futhi ngeke ihlinzekwe noma yikuphi ukuhlolwa kokulandela. Kodwa, futhi lokhu kuyingozi kodwa, ingozi yakhe ayiyona nhlobo-ingu-1 ngo-900. Lokhu kusho ukuthi uma umama oneminyaka engu-30 ubudala oneminyaka engu-30 ubudala ekhona egumbini, omunye uzoba nengane ene-Down syndrome ngisho nakuba "uvivinyo" lwethu luthi wayengekho isikrini (ingozi ephansi!)
Manje ake sibuze umama wakhe uB age. Umama B uneminyaka engu-38 ubudala futhi usekelwe ebudala bakhe, ingozi yakhe yokuba nengane ene-Down syndrome ingu-1 ku-180 (noma inkulu kakhulu kunezinhlekelele zethu ezingu-1 ngo-200). Njengoba ingozi yakhe ingaphezu kuka-1 ngo-200, uthathwa ngokuthi "yesikrini esihle" noma engozini enkulu. Manje kusobala ukuthi ingozi yakhe isengamaphesenti angama-1 (noma ngaphezulu kwamaphesenti angu-99 amathuba ukuthi ingane yakhe ayinayo i-Down syndrome) kodwa ngokuhlola kwethu, umphumela wakhe "uyisikrini esihle". , "Namanje kungenzeka ukuthi ingane yakhe ayinayo i-Down syndrome. Kodwa-ke, ngokusekelwe "engozini" yakhe, uzobe ehlinzekwa ukuhlolwa kokulandelwa kokuhlola ukuhlola ukuthi ngabe ingane ine-Down syndrome. Abaningi besifazane, ngisho nomphumela omuhle wokuhlola, bazoba nezingane ezingenayo i-Down syndrome.
Kodwa ungabona ukuthi ukuthola umphumela "wesikrini" kungakhulisa ukukhathazeka kwakho.
Izinzuzo Nezimo Ezivivinya Ukuhlola
Ngesikhathi ukuhlolwa kokubeletha ngaphambi kokubeletha akukutsheli ngokuqinisekile ngama-chromosomes wengane yakho, banezinzuzo ezithile uma kuqhathaniswa nokuhlolwa kokuhlola njengokuthi amniocentesis noma i-chorionic villi sampling (CVS). Ngesinye, akukho engozini ekukhulelwe. Izivivinyo eziningi zokuhlola i-blood test noma i-ultrasound noma inhlanganisela yazo zombili, ngakho-ke akukho nengozi yokukhulelwa kwesisu okuhlobene nayo njengoba kune-amniocentesis noma i-CVS. Okungalungile ukuthi akunikezi impendulo eqinile, bayakunika ukulinganisa kwengozi yakho.
Ngokuvamile lokhu kulinganiselwa kuphansi (isikhala esingenalutho) futhi abesifazane abaningi bathola lokhu okuqinisekisayo. Kodwa-ke, uma imiphumela yakho yokuhlola ibhekwa njengokuhle, lokhu kungabangela ukukhathazeka okukhulu nakuba kungenzeka ukuthi ingane yakho ayinayo i-Down syndrome. Uma izivivinyo zakho zibhekwa njenge-screen positive, uzobhekana nokukhetha ngokuhlola ukuhlola.
Izinyathelo zokwenza isinqumo mayelana nokuhlolwa kokubeletha
Njengoba ucabanga ngezinqumo zakho, thatha isikhashana ukuhamba ngalezi zinyathelo, ucabange ukuthi isinyathelo esilandelayo singaba siphi ukuhlolwa okukhethile ukuthi ube nakho:
- Uma unengozi ephezulu ye-Down syndrome ngokusekelwe eminyakeni yakho, thatha isikhashana ukuqonda ukuthi ingozi ye-Down syndrome yanda kangakanani ngobudala. Njengoba kuphawuliwe, noma omama asebekhulile, bathi, ngaphezu kweminyaka engama-40, baningi amathuba okuba nengane ngaphandle kwe-Down syndrome kunomntwana one-Down syndrome.
- Uma, ngokususelwa eneminyaka yakho, ukhathazekile ngokuthi ingane yakho inengozi ye-Down syndrome, kufanele udinga ukuhlolwa kokuhlolwa kokubeletha kokuqala kokubeletha (noma ukuhlolwa kokuqala kokuhlolwa kwe-sermester serum, izinga le-B-HCG, ukuhlolwa kwesibindi se-fetoprotein, i-ultrasound ne-trimeter yokuqala ukuhlolwa kwe-nuchal fold noma i-level II ultrasound phakathi nokukhulelwa?) Ngaphambi kokuba lezi zivivinyo zenziwe, cabanga ngesinyathelo esilandelayo. Uma izivivinyo zakho zokuhlola ukungahlolisi (ukuhlolwa kwegazi noma i-ultrasound) ziphakamisa ukuthi usezingeni eliphezulu kakhulu kunezingozi eziphansi, ungenzenjani ngokulandelayo? Uma ungathanda ukuqhubeka ne-amniocentesis noma i-CVS, lokhu kubalulekile ukucabangela ngaphambi kwesikhathi. Uma ungaqhubeki uqhubeka ne-amniocentesis noma i-CVS, cabanga ukuthi ungabhekana kanjani nokukwazi ukuthi unengozi eyengeziwe ngesikhathi ukhulelwe. Ayikho impendulo efanele noma engalungile. Abanye abantu bangase bakhathazeke ngokubona ingozi ekhulayo kanti abanye bangathanda ukwazi ukuthi babe nengozi eyengeziwe ukuze balungiselele ukuthi kungenzeka.
- Uma unesimo sokuhlola okungavamile (noma ngenxa yengozi eyengeziwe ehlobene nobudala) ungacabanga ukwenza i-amniocentesis noma i-CVS? Ngalolu cwaningo, kubalulekile ukulinganisa ulwazi ozoyithola ngokubeka ingozi yemiphumela emibi efana nokukhulelwa kwesisu. Nakuba ingozi yokukhulelwa kwesisu ne-amniocenteis iphansi, isekhona. Kodwa ngaphambi kokuthola lokhu kuhlola cabangela ukuthi uzokwenzani ukwazi imiphumela futhi uma kungakuzuzisa. Ungabe wenza noma yini ehlukile, isibonelo, ucabangela ukukhipha isisu? Ingabe ukukwazi ukuthi kufanele ube nengane ene-Down syndrome kukusiza ukuthi ulungiselele kangcono ukuzalwa? Noma, esikhundleni salokho, ingabe ungumuntu ozokhathazeka ngokukhulelwa kwakho, ukuthola ukuthi ukuxilongwa akukulungiseleli, kodwa kunalokho kungakwenza ukhathazeke?
Okubalulekile ekuhlolweni kokubeletha kwe-Down Syndrome
Isinqumo sokuhlolwa kokubeletha ngesikhathi sokukhulelwa singumuntu oyedwa. Izivivinyo eziningi zokuhlola zihlinzeka abazali ukuba babe nokuqinisekiswa. Kodwa-ke, uma ukuhlolwa kokuhlola kuyisikrini esihle, kungaba nokukhathazeka okukhathazayo. Ukuhlolwa kokuhlola okulandelwayo kuyatholakala, kodwa kunezingozi ezithile ezihambisana nayo futhi kuthatha isikhathi ukuthola imiphumela, okungaba nzima kwabanye abazali. Ukwenza isinqumo nganoma yiluphi uhlobo lokuhlolwa kokubeletha ngesikhathi sokukhulelwa, kubalulekile ukucabangela ukuthi imiphumela yomphumela ithini kuwe nokuthi uzokwenzani ngalolo lwazi.
Imithombo:
Halliday, J., Messerlian, G., noG. Palomaki. Imfundo yokubekezela: Kufanele ngibe nokuhlolwa kokuhlolwa kwe-Down syndrome ngesikhathi sokukhulelwa? (Ngaphandle Kwezinto Eziyisisekelo). UpToDate . Kubuyekezwe 08/10/15.