Isifinyeto sokuhlola nokuhlolwa kokuhlola
Ukuxilongwa kwe-Down syndrome kuvamise kwenziwa ngezindlela ezimbili-mhlawumbe ngemva kokubeletha noma ngesikhathi sokukhulelwa (ngenhliziyo). Ngenkathi inqubo yokuxilonga ingaba nokukhathazeka, ukuthola ulwazi oluyisisekelo mayelana nokuthi yiziphi izinhlobo zokuhlola ongazilindela nokuthi ukuzihumusha zingasiza kanjani wena nomlingani wakho.
Ukuthola i-Down Syndrome ngesikhathi sokuzalwa
Ngisho nangokuhlolwa kokubeletha, izinsana eziningi ezine-Down syndrome zitholwa ngokushesha ngemva kokuzalwa.
Ngokuvamile lokhu kungenxa yokuthi udokotela uyaqaphela ukuthi umntwana unezici ezithile zobuso noma ezibonakalayo ezivame ukubonakala ku-Down syndrome.
Isibonelo, izinsana ezine-Down syndrome zingase zibe namakhanda amancane kunezinye izinsana, amehlo amancane aphakanyisayo, impumulo ethile, futhi nomlomo omncane olimini oluvuzayo. Bangabuye babe nokungafani ezandleni nasezinyaweni zabo. Bangase babe ne-crease eyodwa eseceleni kwesandla sabo (esaziwa njenge-palmar crease eyodwa), izandla ezincane ngeminwe emifushane, futhi isikhala esincane kakhulu phakathi kwezinyawo zabo ezinkulu nezincane.
Izinsana eziningi ezine-Down syndrome nazo zinomsindo ophansi we-muscle noma i-hypotonia. Ngezinye izikhathi, izinsana ezine-Down syndrome zizalwa nezinye izifo ezinzima zokubeletha ezinjengokukhubazeka kwenhliziyo nokukhubazeka kwamathumbu.
Uma udokotela wakho eqaphela ukuthi ingane yakho inezici ezithile zalezi zici, ingase ibe yesola ukuthi ingane yakho ine-Down syndrome. Udokotela wakho uzobe eyala ukuhlaziywa kwe-chromosome (okubizwa nangokuthi i- karyotype ) ukuqinisekisa ukuxilongwa.
Ucwaningo lwe-chromosome luhlolo lwegazi olubheka ama-chromosomes wengane ngaphansi kwe-microscope. Iningi labantu linenani lama-chromosomes angu-46. Abantu abane-Down syndrome bane- namba engaphezulu ye-chromosome engama-chromosomes angu-47.
Ukuthola I-Down Syndrome Ngaphandle
Ngenkathi i-Down syndrome ivame ukutholakala ngokushesha ngemva kokuzalwa, ibuye ihlolwe ngokuqhubekayo ngesikhathi sokukhulelwa (ngenhliziyo) ngenxa yokuthola okungavamile kwe-ultrasound (sonogram), umphumela ongajwayelekile ekuhlolweni kwegazi lomama (ukuhlolwa kwesisu somama), noma i-amniocentesis noma ukuhlolwa kwe-chorionic villi (CVS).
I-Chorionic villi sampling noma i-CVS wuhlolo olwenziwa e-placenta phakathi kwamaviki angu-10 no-12 okukhulelwa.
Zombili izinhlelo ze-ultrasound kanye nesisu se-maternal zihlola izivivinyo. Ngokuphambene, i-amniocentesis ne-CVS zibhekwa njengokuhlolwa kokuhlola. Isivivinyo sokuhlola asikwazi neze ukukunikeza ukuxilongwa okuqinile-kukutshela ukuthi unengozi ephakeme yokuba nengane ene-Down syndrome. Ngakolunye uhlangothi, ukuhlolwa kokuhlonza kukunikeza ukuxilongwa okuqondile.
Iziphumo ze-Ultrasound ku-Down Syndrome
I-ultrasound, futhi iyazi njenge-sonogram, isilingo esenziwa ngesikhathi sokukhulelwa esisebenzisa amagagasi omsindo ukuze kuvezwe isithombe noma isithombe se-fetus. Ngezinye izikhathi, kodwa hhayi ngaso sonke isikhathi, izinsana ezine-Down syndrome zibonisa izimpawu ezicashile kwi-ultrasound ezingenza udokotela wakho asole ukuthi ingane isifo se-Down syndrome.
Ezinye zalezi zibonakaliso ezicashile zihlanganisa ukwehla kwesifazane (i-bone emlenzeni), ukwanda kwesikhumba ngemuva kwentamo (okuthiwa i-translucency ye-nuchal), noma ukungabikho kwamathambo ekhaleni. Lezi yizinto ezivame ukubizwa ngokuthi "ama-soft markers" ngoba akukho nhlobo yalezi ziphumo ze-ultrasound ezizokwenza ukuthi ingane ibe nezinkinga ngokwazo. Kodwa-ke, bangenza udokotela asole ukuthi ingane isifo se-Down syndrome. Ezinye izibonakaliso ezingathí sina ezingase zibonwe kwi-ultrasound zihlanganisa ukukhubazeka kwenhliziyo namabhulogi emathumbu.
Noma kunjalo, i-Down syndrome ayikwazi ukuthola ukuthi isekelwe ekutholeni kwe-ultrasound yedwa. Lokhu okutholakele kubonisa ukuthi kukhona ingozi ephezulu yokuthi ingane ingaba ne-Down syndrome. Ngokusekelwe kulo mngcipheko okhulayo, udokotela wakho uzakutusa ukuthi ucabangele i-amniocentesis noma i-CVS ukuqinisekisa ukuxilongwa. Kungukuthi ukuthi unqume ukuthi ngabe ungahlolwa yini noma cha.
Kubalulekile ukuqaphela ukuthi iningi lezingane ezinesifo se-Down syndrome azikho izinto ezingavamile kwi-ultrasound. Ngokuvamile abantu baqinisekiswa ngamanga nge-ultrasound evamile ngoba bakholelwa ukuthi kusho ukuthi azikho izinkinga nengane. Ngeshwa, lokhu akulona iqiniso.
Ukuba ne-ultrasound evamile kuyinhle futhi kuqinisekisayo, kodwa akuyona isiqinisekiso sokuthi konke kuphelele.
Ukuhlolwa Kwama-Maternal Serum Ukuhlola Ukuhlola I-Down Syndrome
Ukuhlolwa kwegazi (okwenziwe kumama) okuvame ukubizwa ngokuthi "isikrini esine-quadruple" kungenziwa phakathi kweviki le-15 nelama-20 lokukhulelwa. Isikrini esine-quadruple sibheka izinto ezine emgodleni wegazi lomama:
- I-Alpha-fetoprotein (AFP)
- I-estriol engaxhunyiwe
- I-griadotropin ye-chorionic yabantu (hCG)
- Inhibin A
I-AFP ikhiqizwa esikhwameni se-yolk nesibindi sesisu, i-estriol ikhiqizwa yi-fetus ne-placenta, i-hCG ikhiqizwa ngaphakathi kwe-placenta, futhi i-inhibin A ikhiqizwa yi-placenta nama-ovari. Uma ingane isifo se-Down syndrome, amazinga alezi zinto emgodleni wegazi lomama angase ahluke ngokujwayelekile.
Isikrini esinezinhlamvu ezine-njengoba igama layo lisho-nje ukuhlolwa kokuhlola. Awukwazi ukuqinisekisa ukuthi ingane yakho ine-Down syndrome, kodwa ingakutshela ukuthi ingozi yakho iphakeme yini. Uma ukuhlolwa kwakho kokuhlola kulungile, kumane kusho ukuthi ingozi yokuba nengane ene-Down syndrome iphakeme kunabanye besifazane oneminyaka yakho. Kodwa ngisho nokuhlolwa kokuhlola okuhle, abesifazane abaningi bayoba nezinsana ngaphandle kwe-Down syndrome. Ngakolunye uhlangothi, isikrini esiphezulu se-quadruple sisho ukuthi ithuba le-Down syndrome liphansi kepha aliyona i-zero. Akuqinisekisi ingane ngaphandle kwe-Down syndrome.
Isivivinyo esinezinkanyezi ezihlangene nobudala besifazane singathola cishe amaphesenti angama-75 okukhulelwa abathintekayo yi-trisomy 21 kwabesifazane abangaphansi kweminyaka engama-35 nangaphezulu kwama-80% okukhulelwa kwabesifazane abaneminyaka engama-35 nangaphezulu.
Ngasekupheleni kweminyaka yama-1990, ukuhlolwa kokuqala kwe-trimester kwe-Downs Syndrome (namanye okungajwayelekile kwe-chromosomal) kwakhiwe. Lezi zivivinyo zihlanganisa ukulinganisa i-translucency ye-nuchal ne-ultrasound nokuhlolwa kwegazi ezimbili: i-gonadotropin ye-chorionic yomuntu kanye nesiprotheni se-plasma ehlobene nokukhulelwa A (PAPPA). Imiphumela yalezi zivivinyo ihlangene nobudala besifazane ukunquma ingozi yokugcina ye-chromosomal engavamile, kuhlanganise ne-trisomy 21.
Amniocentesis ekuboneni i-Down Syndrome
Uma ukuhlolelwa igazi kwegazi noma i-ultrasound kubonisa ingozi eyengeziwe, noma uma ungaphezu kweminyaka engu-35, uzonikezwa i-amniocentesis. I-amniocenteis yisifo esivame ukuqhutshwa phakathi kwamaviki angu-15 no-20 okukhulelwa. Kuhilela ukusebenzisa inaliti encane efakwe ngaphakathi kwesisu sakho (hhayi nge-inkinobho yakho yesisu), ukuthola ezinye ze-amniotic fluid ezungeze ingane yakho. Le amniotic fluid iqukethe amanye amangqamuzana omzimba wengane. Lawa maseli esikhumba angasetshenziswa ukuthola i-karyotype ye-fetal-isithombe se-chromosomes ye-fetus. Uma ingane isitholakala ukuthi ine-nucleusome eyengeziwe, i-Down syndrome iyatholakala.
I-CVS ekuboneni i-Down Syndrome
I-Chorionic villi sampling noma i-CVS yinqubo eyenziwa emavikini angu-11 kuya kwangu-13 okukhulelwa. Kule nqubo, inaliti encane noma i- catheter ifakwa ku-placenta ukuthola amanye amaseli. I-placenta itholakala kumangqamuzana afanayo akha i-fetus, ngakho-ke ngokubheka amaseli we-placenta, ubuka namaseli we-fetus. Lawa maseli athunyelwa ebhodini lokuhlaziywa kwe-chromosome. Uma i-karyotype yembula ukuthi i-fetus inombhalo we-chromosome eyengeziwe, i-fetus izoba ne-Down syndrome.
I-Amniocentesis ne-CVS yizivivinyo zokuzikhethela ngesikhathi ukhulelwe-kungukuthi ukukhetha ukuthi izinzuzo zokwazi ngama-chromosomes wakho we-fetus zingaphezu kwezingozi zenqubo. Zombili izinqubo zinezingozi ezincane zokukhulelwa kwesisu. Ingozi engaphansi kokuthi amaphesenti angu-1 we-amniocenteis namaphesenti angu-1 kuya kwangu-2 we-CVS. Abanye besifazane bakhetha i-CVS ku-amniocentesis ngoba bafuna ukuthola ulwazi ekuqaleni kokukhulelwa kwabo, kanti abanye bakhetha i-amniocentesis ngenxa yengozi ephansi yokukhulelwa kwesisu. Nguwe kuphela onganquma ukuthi yini engcono kuwe.
> Imithombo:
> I-American Pregnancy Association. (2016). Ukuhlolwa kwe-Quad Screen.
> I-National Institute of Health and Child Development (NICHD). I-Down Syndrome: Imininingwane Yesimo.
> Simpson JL. Izinqubo eziyinkimbinkimbi zokuxilongwa ngaphambi kokubeletha: noma yikuphi kwesokunxele kwesokunxele? I-Best Pract Res Clin Obstet Gynaecol . 2012 Oct; 26 (5): 625-38.
> Smith M, Visootsak J. Noninvasive amathuluzi wokuhlola e-Down syndrome: ukubuyekezwa. Int J Womens Health . 2013; 5: 125-31.
> Zolotor AJ, uCarlough MC. Ukuvuselelwa kokunakekelwa kokubeletha. Am Fam Physician . 2014 Feb 1; 89 (3): 199-208.