Isishwankathelo sokuhlola kunye novavanyo lokuxilonga
Ukuxilongwa kwe-Down syndrome ngokuqhelekileyo kwenziwe ngeendlela ezimbini-mhlawumbi emva kokuzalwa okanye ngexesha lokukhulelwa (ngokukhawuleza). Nangona inkqubo yokuxilonga ingakwazi ukuxhalabisa, ukufumana ulwazi olusisiseko malunga naluphi uhlobo lweemvavanyo onokulindela kwaye indlela yokuyichaza ngayo lunokuba luncedo kakhulu kuwe nakwiqabane lakho.
Ukufumanisa i-Down Syndrome ekuzalweni
Ngaphandle kokuvavanywa kokubeleka, ezininzi iintsana ezine-Down syndrome ziyafunyanwa kungekudala emva kokuzalwa.
Ngokuqhelekileyo oku kungenxa yokuba ugqirha uyaphawula ukuba umntwana unezinto ezibonakalayo okanye ezibonakalayo ezibonakalayo kwi-Down syndrome.
Ngokomzekelo, iintsana ezine-Down syndrome zinokuba neentloko ezincinci kunezinye iintsana, iincinci ezinyukayo, isiphumo esicwebileyo kunye nomlomo omncinci ngolwimi olukhukhulayo. Bangakwazi ukwahlukana kwezandla kunye neenyawo. Basenokuba nesinye isinye kwisandla sabo (esaziwa njenge-palmar crease), izandla ezincinci ngeminwe emfutshane, kunye nesithuba esithile esikhulu phakathi kwezandla zabo ezinkulu kunye neyesibini.
Uninzi lweintsana ezine-Down syndrome nazo zinomsindo ophantsi we-muscle okanye i-hypotonia. Ngamanye amaxesha, iintsana ezine-Down syndrome zizalelwa ezinye iziphene ezinzulu ezifana nokukhubazeka kwentliziyo kunye neziphene zesisu.
Ukuba ugqirha wakho uyaqaphela ukuba umntwana wakho unaloo mpawu, unokusolisa ukuba umntwana wakho une-Down syndrome. Ugqirha wakho uya kuthi uhlalutye uhlalutyo lwe-chromosome (ekwabizwa ngokuba yi- karyotype ) ukuqinisekisa ukuxilongwa.
Uvavanyo lwe-chromosome luvavanyo lwegazi olujonge i-chromosomes yomntwana phantsi kwe-microscope. Uninzi lwabantu banama-chromosomes angama-46. Abantu abane-Down syndrome baneenombolo ezingaphezulu kwe- chromosome ezingama-47 ezipheleleyo ezingama-47 ama-chromosomes.
Ukuchonga i-Down Syndrome ngokubanzi
Nangona i-Down syndrome ixilongwa ngokukhawuleza emva kokuzalwa, iphinda ixilongwe xa ikhulelwe (ngokukhawuleza) ngenxa yesiphumo esingaqhelekanga se-ultrasound (sonogram), umphumo ongaqhelekanga ekuhlolweni kwegazi lomama (ukuhlolwa kwegazi lomama), okanye i-amniocentesis okanye uvavanyo lwe-chorionic villi (CVS).
Isampuli se-Chorionic villi okanye i-CVS luvavanyo olwenziwe kwi-placenta phakathi kweveki ezi-10 ukuya kwe-12 zokukhulelwa.
Iimvavanyo zombini ze-ultrasound kunye ne-maternal maternal tests. Ngokwahlukileyo, i-amniocentesis kunye neeCVS zibhekwa njengezilingo zokuxilonga. Uvavanyo lokuhlola luyakwazi ukukunika uxilongo oluqinileyo-lukuxelela nje ukuba unomngcipheko ophezulu wokuba nosana olune-Down syndrome. Ngakolunye uhlangothi, ukuvavanya uvavanyo kukunika ukuxilongwa ngokucacileyo.
Iziphumo ze-Ultrasound kwi-Down Syndrome
I-ultrasound, yazi nokuba yi-sonogram, luvavanyo olwenziweyo ngexesha lokukhulelwa olusebenzisa amaza omsindo ukuvelisa umfanekiso okanye umfanekiso wesisu. Ngamanye amaxesha, kodwa kungekho rhoqo, iintsana ezine-Down syndrome zibonisa iimpawu ezinqabileyo kwi-ultrasound engenza ugqirha wakho agxeke ukuba umntwana ophethe i-Down syndrome.
Ezinye zezi zibonakaliso ezifihlakeleyo ziquka ukuhla kwe-femur length (ithambo emlenzeni), ukwanda kwesikhumba emva kwentamo (ebizwa ngokuba yi-nuchal translucency), okanye ukungabikho kwethambo lempumlo. Le yinto edlalwa ngokuba yi "makhamera amancinci" kuba akukho nanye kweziphumo ze-ultrasound eziza kubangela ukuba umntwana abe neengxaki ngokwabo. Nangona kunjalo, banokwenza ugqirha ugxeke ukuba umntwana ophethe i-Down syndrome. Ezinye izibonakaliso ezinzulu ezingabonakala kwi-ultrasound ziquka ukukhubazeka kwentliziyo kunye nezithintelo zamathumbu.
Nangona kunjalo, i-Down syndrome ayikwazi ukufunyanwa ngokusekelwe kwizinto ezifunyenwe yi-ultrasound kuphela. Ezi ziphumo zibonisa nje ukuba kukho umngcipheko ophezulu wokuba umntwana lowo unokuba ne-Down syndrome. Ngokusekelwe kulo mngcipheko ophezulu, ugqirha uya kukucebisa ukuba uqwalasele i-amniocentesis okanye i-CVS ukuqinisekisa ukuxilongwa. Kuye kuwe ukugqiba ukuba ngaba unokuhlolwa.
Kubalulekile ukuba uqaphele ukuba ezininzi iintsholongwane ezine-Down syndrome azibonisi ukungaqhelekanga kwi-ultrasound. Ngokuqhelekileyo abantu baqinisekiswa ngokunyanisekileyo nge-ultrasound evamile kuba bakholelwa ukuba akukho ziingxaki zentsana. Ngelishwa, oku akunjalo.
Ukuba ne-ultrasound eqhelekileyo yinto enhle kwaye iyakhuthaza, kodwa ayikho isiqinisekiso sokuthi yonke into iphelele.
Uvavanyo lwe-Seram yokuhlola i-Seram ekuhloleni i-Down Syndrome
Ukuhlolwa kwegazi (okwenziwe kumama) ngokuqhelekileyo kuthiwa "isikrini esine-quadruple" singenziwa phakathi kwe-15 neveki ye-20 yokukhulelwa. Isikrini esine-quadruple sibheka izinto ezine kwigazi lomama:
- I-Alpha-fetoprotein (AFP)
- I-estriol engabonakaliyo
- I-chorionic gonadotropin (hCG)
- Inhibin A
I-AFP ikhiqizwa kwi-yolk bag kunye nesibindi sesisu, i-estriol ikhiqizwa ngumntwana kunye ne-placenta, i-hCG ikhiqizwa ngaphakathi kwe-placenta, kwaye i-inhibin A iveliswa yi-placenta kunye nama-ovari. Xa umntwana ephethe i-Down syndrome, amanqanaba ezi zinto kwigazi lomama ahluke kwizinto eziqhelekileyo.
Isikrini esine-quadruple-njengokuba igama layo lithetha-nje ukuvavanya ukuhlola. Ayinakukwazi ngokuqinisekileyo ukuba umntwana wakho une-Down syndrome, kodwa unokukuxelela ukuba umngcipheko wakho uphezulu. Ukuba uhlolo lwakho lokuhlola lukhangelekile, luthetha nje ukuba umngcipheko wokuba usana olune-Down syndrome luphezulu kunabanye abasetyhini bakho ubudala. Kodwa nangona vavanyo oluhle lokuhlola, abaninzi abafazi baya kuba nabantwana abangenayo i-Down syndrome. Ngakolunye uhlangothi, isikrini esiphezulu sinekrini sithetha ukuba ithuba le-Down syndrome liphantsi kodwa alikho. Akuqinisekisi umntwana ongenayo i-Down syndrome.
Uvavanyo olu-quadruple oludibaniswe nobudala bhinqa lunokubona malunga neepesenti ezingama-75 zokukhulelwa ezichaphazelekayo yi-trisomy 21 kwabasetyhini abangaphantsi kweminyaka engama-35 kunye nangaphezulu kwe-80 ekhulwini lokukhulelwa kwabasetyhini abaneminyaka engama-35 nangaphezulu.
Ekupheleni kwee-1990, iimvavanyo zokuqala zokuhlola i-Downs Syndrome (kunye nezinye izinto ezingaqhelekanga) zaphuhliswa. Ezi mvavanyo ziquka ukulinganisa i-nuchal translucency nge-ultrasound kunye nokuhlolwa kwegazi ezimbini: i-chorionic gonadotropin kunye neprotheni ye-plasma echaphazelekayo (PAPPA). Iziphumo zale mvavanyo zidibaniswe nobudala bowesifazane ukufumana umngcipheko wokugqibela wezinto ezingavumelekanga, okuquka i-trisomy 21.
Amniocentesis ekuHongeni i-Down Syndrome
Ukuba ukuhlolwa kwegazi okanye i-ultrasound ibonisa ingozi eyongeziweyo, okanye ukuba uneminyaka engaphezu kwe-35, uya kunikwa i-amniocentesis. I-amniocentesis ngumvavanyo oqhelekileyo owenziwa phakathi kweeveki ezili-15 neye-20 zokukhulelwa. Kubandakanya ukusebenzisa inaliti encotshelwa efakwe kwisisu sakho (kungekhona ngesicinci sakho esiswini), ukufumana ezinye ze-amniotic fluid ezungeze umntwana. Le amniotic fluid iqulethe ezinye zeeseli zesikhumba zomntwana. Ezi seli zesikhumba zingasetyenziselwa ukufumana i-karyotype ye-fetal-umfanekiso we-chromosomes ye-fetus. Ukuba i-fetus ifunyenwe ukuba ibe nenombolo engaphezulu ye-chromosome, ke ukuxilongwa kwe-Down syndrome kwenziwa.
I-CVS ekuchithweni kwe-Down Syndrome
I-chorionic villi sampling okanye i-CVS yinkqubo eyenziwa malunga neveki ezi-11 ukuya kuma-13 zokukhulelwa. Kule nqubo, inaliti encinci okanye ikathetha ifakwe kwi-placenta ukufumana ezinye iiseli. I-placenta itholakala kwiiseli ezifanayo ezenza umntwana, ngoko ngokujonga iiseli ze-placenta, ukhangele iiseli zobusana. Ezi iiseli zithunyelwa kwilebhu yokuhlalutya kwe-chromosome. Ukuba i-karyotype ibonisa ukuba umntwana ufumane i-chromosome inombolo engaphezulu kwe-21, ngoko umntwana uya kuba ne-Down syndrome.
Ama-Amniocentesis kunye neeCVS ziimvavanyo zokuzikhethela ngexesha lokukhulelwa-kukufikelela kuwe ukugqiba ukuba ngaba ukwazi malunga ne-chromosomes yakho yesisu kukugqithise ingozi yenkqubo. Zombini iinkqubo zinomngcipheko omncinci wokukhulelwa kwesisu. Umngcipheko ungaphantsi kwe 1 pesenti ye-amniocentesis kunye ne-1 ukuya kwi-2 ekhulwini kwi-CVS. Abanye besetyhini bakhetha i-CVS kwi-amniocentesis kuba bafuna ukufumana ulwazi kwangaphambili ekukhulelweni kwabo, abanye bakhetha amniocentesis ngenxa yengozi ephantsi yokukhulelwa kwesisu. Nguwe kuphela onokugqiba isisombululo.
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