Uvavanyo lwe-Down Syndrome

Umxholo

• Luthini uvavanyo lwe-Down syndrome?
• Zisetyenziselwa ntoni iimvavanyo?
• Kutheni ndifuna uvavanyo lwe-Down syndrome?
• Zithini iintlobo ezahlukeneyo zovavanyo lwe-Down syndrome?
• Kwenzeka ntoni ngexesha lokuvavanywa kwe-Down syndrome?
• Ngaba kuya kufuneka ndenze nantoni na ukulungiselela iimvavanyo?
• Ngaba bukhona ubungozi kwiimvavanyo?
• Zithetha ntoni iziphumo?
• Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwe-Down syndrome?
• Izalathiso

Luthini uvavanyo lwe-Down syndrome?

I-Down syndrome sisifo esibangela ukukhubazeka kwengqondo, iimpawu zomzimba ezahlukileyo, kunye neengxaki zempilo ezahlukeneyo. Oku kunokubandakanya iziphene zentliziyo, ukulahleka kwendlebe, kunye nesifo se-thyroid. I-Down syndrome luhlobo lwesifo se-chromosome.

IiChromosomes ngamalungu eeseli zakho aqukethe imfuza yakho. Imfuza ngamalungu e-DNA agqithiselwe kumama notata wakho. Baphethe ulwazi olumisela iimpawu zakho ezizodwa, ezinjengokuphakama nombala wamehlo.

• Ngokwesiqhelo abantu banee-chromosomes ezingama-46, zahlulwe zangama-23 amabini, kwiseli nganye.
• Isibini esinye seekromosomes sivela kunyoko, kwaye esinye isibini sivela kuyihlo.
• Kwi-Down syndrome, kukho ikopi eyongezelelweyo ye-chromosome 21.
• I-chromosome eyongezelelweyo itshintsha indlela umzimba nengqondo ezikhula ngayo.

I-Down syndrome, ekwabizwa ngokuba yi-trisomy 21, sesona sifo sixhaphakileyo e-chromosome e-United States.

Kwiindlela ezimbini ezinqabileyo ze-Down syndrome, ebizwa ngokuba yi-mosaic trisomy 21 kunye ne-translocation trisomy 21, i-chromosome eyongezelelweyo ayibonisi kwiseli nganye. Abantu abanezi ngxaki bahlala benempawu ezimbalwa kunye neengxaki zempilo ezinxulumene nefom yesi sifo.

Uvavanyo lokuvavanywa kwesifo se-Down syndrome lubonisa ukuba ngaba umntwana wakho ongekazalwa kunokwenzeka ukuba abe ne-Down syndrome. Ezinye iintlobo zeemvavanyo ziqinisekisa okanye zilawule ukuxilongwa.

Zisetyenziselwa ntoni iimvavanyo?

Uvavanyo lwe-Down syndrome lusetyenziselwa ukukhusela okanye ukufumanisa isifo se-Down syndrome. Uvavanyo lwe-Down syndrome lunovavanyo oluncinci okanye alunabungozi kuwe okanye kusana lwakho, kodwa abanakukuxelela ngokuqinisekileyo ukuba umntwana wakho une-Down syndrome.

Uvavanyo lokuchonga ngexesha lokukhulelwa lunokuqinisekisa okanye lukhuphe ukuxilongwa, kodwa iimvavanyo zinomngcipheko omncinci wokubangela ukuphuphuma kwesisu.

Kutheni ndifuna uvavanyo lwe-Down syndrome?

Ababoneleli abaninzi bezempilo bancomela ukuvavanywa kwe-Down syndrome kunye / okanye iimvavanyo zokuqonda isifo kwabasetyhini abakhulelweyo abaneminyaka engama-35 ubudala okanye ngaphezulu. Ubudala bukamama ngowona mngcipheko uphambili wokuba nomntwana one-Down syndrome. Umngcipheko uyanda njengokuba umfazi esiya esiba mdala. Kodwa unokuba semngciphekweni omkhulu ukuba sele unosana olune-Down syndrome kunye / okanye unembali yosapho yokuphazamiseka.

Ukongeza, unokufuna ukuvavanywa ukukunceda ukulungiselela ukuba iziphumo zibonisa ukuba umntwana wakho unokuba ne-Down syndrome. Ukwazi kwangaphambili kunokukunika ixesha lokucwangcisela ukhathalelo lwempilo kunye neenkonzo zenkxaso zomntwana wakho kunye nosapho.

Kodwa ukuvavanya akuyena wonke umntu. Ngaphambi kokuba uthathe isigqibo sokuvavanywa, cinga ngendlela onokuziva ngayo kunye nento onokuyenza emva kokufunda iziphumo. Kuya kufuneka uxoxe ngemibuzo kunye neenkxalabo zakho kunye neqabane lakho kunye nomboneleli wakho wezempilo.

Ukuba awuzange uvavanywe ngexa lokukhulelwa okanye ufuna ukuqinisekisa iziphumo zolunye uvavanyo, unokufuna ukuba umntwana wakho avavanywe ukuba uneempawu ze-Down syndrome. Oku kubandakanya:

• Ubuso obucwangcisiweyo kunye nempumlo
• Amehlo amile okwe-amangile ahlala phezulu
• Iindlebe ezincinci nomlomo
• Amabala amhlophe amancinci esweni
• Ithoni yemisipha engalunganga
• Ukulibaziseka kophuhliso

Zithini iintlobo ezahlukeneyo zovavanyo lwe-Down syndrome?

Zimbini iintlobo ezisisiseko zovavanyo lwe-Down syndrome: ukuhlolwa kunye novavanyo lokuqonda isifo.

Ukuvavanywa kwe-Down syndrome kubandakanya ezi mvavanyo zilandelayo zenziwe ngexa lokukhulelwa:

• Ukuhlolwa kwekota yokuqala kubandakanya uvavanyo lwegazi olujonga amanqanaba eeproteni ezithile kwigazi likamama. Ukuba amanqanaba aqhelekanga, oko kuthetha ukuba kukho amathuba aphezulu okuba umntwana abe ne-Down syndrome. Uvavanyo lukwabandakanya i-ultrasound, uvavanyo lokucinga olujonga usana olungekazalwa ngeempawu ze-Down syndrome. Uvavanyo lwenziwa phakathi kweveki ye-10 neye-14 yokukhulelwa.
• Ukuhlolwa kwekota yesibini. Olu luvavanyo lwegazi olujonga izinto ezithile egazini likanina ezinokuba luphawu lwe-Down syndrome. Uvavanyo lwesithathu lwesikrini lukhangela izinto ezintathu ezahlukeneyo. Yenziwe phakathi kweveki ye-16 neye-18 yokukhulelwa. Uvavanyo lwescreen esine lujonga izinto ezine ezahlukeneyo kwaye lwenziwa phakathi kwe-15 neye-20 iveki yokukhulelwa. Umboneleli wakho unoku-odola enye okanye zombini ezi mvavanyo.

Ukuba ukuhlolwa kwakho kwe-Down syndrome kubonisa ithuba eliphezulu le-Down syndrome, unokufuna ukuthatha uvavanyo lokuhlola ukuqinisekisa okanye ukukhupha ukuxilongwa.

Uvavanyo lwe-Down syndrome olwenziwe ngexesha lokukhulelwa lubandakanya:

• Amniocentesis, ethatha isampulu ye-amniotic fluid, ulwelo olujikeleze usana lwakho olungekazalwa. Ihlala isenziwa phakathi kwe-15 neye-20 iveki yokukhulelwa.
• Isampulu ye-chorionic villus (CVS), ethatha isampuli kwi-placenta, ilungu elondla umntwana wakho ongekazalwa kwisibeleko sakho. Ihlala isenziwa phakathi kweveki ye-10 neye-13 yokukhulelwa.
• Isampulu yegazi eliyimbumba yesampuli (PUBS), ethatha isampulu yegazi kwinkaba. I-PUBS inikezela ngesona sifo sichanekileyo se-Down syndrome ngexesha lokukhulelwa, kodwa ayinakwenziwa kude kube sekupheleni kwexesha lokukhulelwa, phakathi kwe-18 neye-22 iveki.

Ukuxilongwa kwe-Down syndrome emva kokuzalwa:

Umntwana wakho unokufumana uvavanyo lwegazi olujonga ii-chromosomes zakhe. Olu vavanyo luya kukuxelela ngokuqinisekileyo ukuba umntwana wakho une-Down syndrome.

Kwenzeka ntoni ngexesha lokuvavanywa kwe-Down syndrome?

Ngexesha lovavanyo lwegazi, Unonophelo lwempilo uyakuthatha isampulu yegazi kumthambo engalweni yakho, esebenzisa inaliti encinci. Emva kokuba inaliti ifakiwe, inani elincinci legazi liya kuqokelelwa kwityhubhu yovavanyo okanye igutyana. Unokuziva uluma kancinci xa inaliti ingena okanye iphuma. Oku kuhlala kuthatha imizuzu engaphantsi kwesihlanu.

Kwikota yokuqala ye-ultrasound, umboneleli wezempilo uya kususa isixhobo se-ultrasound phezu kwesisu sakho. Esi sixhobo sisebenzisa amaza esandi ukujonga usana lwakho olungekazalwa. Umboneleli wakho uya kujonga ubukhulu emva kwentamo yosana lwakho, nto leyo engumqondiso we-Down syndrome.

Kwi-amniocentesis:

• Uya kulala ngomqolo kwitafile yeemviwo.
• Umboneleli wakho uya kususa isixhobo se-ultrasound ngaphezulu kwesisu sakho. I-Ultrasound isebenzisa amaza esandi ukujonga indawo yesibeleko sakho, iplacenta, kunye nosana.
• Umboneleli wakho uya kufaka inaliti encinci esiswini sakho kwaye urhoxe inani elincinci le-amniotic fluid.

Isampulu ye-chorionic villus (CVS):

• Uya kulala ngomqolo kwitafile yeemviwo.
• Umboneleli wakho uya kuhambisa isixhobo se-ultrasound ngaphezulu kwesisu sakho ukujonga indawo yesibeleko sakho, iplacenta, kunye nosana.
• Umboneleli wakho uya kuqokelela iiseli kwi-placenta ngenye yeendlela ezimbini: nokuba ngumlomo wesibeleko ngombhobho omncinci obizwa ngokuba yi-catheter, okanye ngenaliti encinci kwisisu sakho.

Ukwenza isampulu yegazi esiswini (percutaneous) (PUBS):

• Uya kulala ngomqolo kwitafile yeemviwo.
• Umboneleli wakho uya kususa isixhobo se-ultrasound ngaphezulu kwesisu sakho ukujonga indawo yesibeleko sakho, iplacenta, usana, kunye nentambo.
• Umboneleli wakho uya kufaka inaliti ebhityileyo kwintambo yesibovu kwaye arhoxise isampulu yegazi encinci.

Ngaba kuya kufuneka ndenze nantoni na ukulungiselela iimvavanyo?

Akukho lungiselelo lukhethekileyo luyafuneka kuvavanyo lwe-Down syndrome. Kodwa kuya kufuneka uthethe nomboneleli wakho wezempilo malunga nobungozi kunye nezibonelelo zovavanyo.

Ngaba bukhona ubungozi kwiimvavanyo?

Kukho umngcipheko omncinci wokuvavanywa kwegazi okanye i-ultrasound. Emva kovavanyo lwegazi, unokuba nentlungu encinci okanye ukugruzuka kwindawo ebekwe kuyo inaliti, kodwa uninzi lweempawu zihamba ngokukhawuleza.

I-Amniocentesis, i-CVS, kunye novavanyo lwe-PUBS zihlala zikhuselekile, kodwa zinomngcipheko omncinci wokubangela ukukhutshwa kwesisu.

Zithetha ntoni iziphumo?

Iziphumo zokuvavanywa kwesifo se-Down syndrome zingabonisa kuphela ukuba unomngcipheko ophezulu wokuba nomntwana one-Down syndrome, kodwa abanakukuxelela ngokuqinisekileyo ukuba umntwana wakho une-Down syndrome usana olungenasiphako kwi-chromosomal okanye ukuphazamiseka.

Ukuba iziphumo zokuvavanywa kwe-Down syndrome bezingaqhelekanga, unokukhetha ukwenza uvavanyo olunye okanye nangaphezulu.

Inokukunceda ukuthetha nomcebisi ngemfuzo ngaphambi kokuvavanywa kunye / okanye emva kokuba ufumane iziphumo zakho. Umcebisi ngemfuzo yingcali eqeqeshwe ngokukodwa kwimfuzo novavanyo lwemfuzo. Unokukunceda uqonde ukuba zithini na iziphumo zakho.

Funda ngakumbi malunga novavanyo lwelabhoratri, uluhlu lweereferensi, kunye neziphumo zokuqonda.

Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwe-Down syndrome?

Ukukhulisa umntwana one-Down syndrome kunokuba lucelomngeni, kodwa kube nemivuzo. Ukufumana uncedo kunye nonyango kwiingcali kwasekuqaleni ebomini kunokunceda umntwana wakho afikelele kumandla akhe. Uninzi lwabantwana abane-Down syndrome bakhula bephila ubomi obusempilweni kwaye bonwabile.

Thetha nomboneleli wakho wezempilo kunye nomcebisi wezofuzo malunga nokhathalelo olukhethekileyo, izixhobo kunye namaqela enkxaso kubantu abane-Down syndrome kunye neentsapho zabo.

Izalathiso

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Ulwazi olukule ndawo akufuneki lusetyenziswe endaweni yonyango okanye iingcebiso. Nxibelelana nomboneleli wezempilo ukuba unemibuzo malunga nempilo yakho.