Chidule cha kuyesa ndi kuyesa
Matenda a Down syndrome amapezeka kawiri mwa njira ziwiri-kaya atangobadwa kumene kapena panthawi yomwe ali ndi mimba (pena). Ngakhale njira yoyezetsa matenda ingakhale yodetsa nkhaŵa, kupeza chidziwitso chachiyeso pa mayesero amtundu womwe mungayang'ane ndi momwe mungatanthauzire izo zingakhale zothandiza kwambiri kwa inu ndi mnzanuyo.
Kuzindikira Down Syndrome Pa Kubadwa
Ngakhale atayesedwa, atsikana ambiri omwe ali ndi matenda a Down syndrome amapezeka atangobadwa kumene.
Kawirikawiri izi ndi chifukwa dokotala amadziwa kuti mwanayo ali ndi nkhope zina kapena zooneka bwino zomwe zimawoneka mu Down syndrome.
Mwachitsanzo, ana omwe ali ndi matenda a Down syndrome akhoza kukhala ndi mitu yaing'ono kuposa ana ena, maso ocheperapo, mphuno yochepetsedwa, ndi kamwa kakang'ono kamene kali ndi lilime lopweteka. Angakhalenso ndi kusiyana pakati pa manja ndi mapazi. Iwo akhoza kukhala ndi chomera chimodzi pamtambo wawo (wotchedwa palmar crease), manja ang'onoang'ono ndi zala zazing'ono, ndi malo akuluakulu pakati pa zazikulu ndi zala zazikulu.
Ana ambiri omwe ali ndi matenda a Down syndrome amakhalanso ndi mawu otsika kapena hypotonia. Nthaŵi zina, makanda omwe ali ndi matenda a Down syndrome amabadwa ndi zilema zazikulu zobadwa monga zofooka za mtima ndi zofooka m'mimba.
Ngati dokotala wanu akuzindikira kuti mwana wanu ali ndi zina mwazimenezi, akhoza kukayikira kuti mwana wanu ali ndi Down syndrome. Dokotala wanu adzakonza kafukufuku wa chromosome (womwe umatchedwanso karyotype ) kuti atsimikizire kuti akudwala matendawa.
Phunziro la chromosome ndiyeso la magazi lomwe limayang'ana ma chromosome a mwana pansi pa microscope. Anthu ambiri ali ndi ma chromosome 46 okwanira. Anthu omwe ali ndi matenda a Down syndrome ali ndi chromosome yowonjezera 21 yowonjezera ma 47 chromosomes.
Kuzindikira Down Syndrome Pomwe
Ngakhale kuti matenda otchedwa Down syndrome amapezeka kawirikawiri atangobereka, amadziwikanso kwambiri pamene ali ndi mimba (potsatira) chifukwa cha zotsatira zosayembekezereka za ultrasound (sonogram), zotsatira zowonongeka za kuyesedwa kwa magazi a amayi (kuyesedwa kwa amayi), kapena amniocentesis kapena chorionic villi sampling (CVS) kuyesedwa.
Chorionic villi sampling kapena CVS ndi mayeso ochitidwa pa placenta pakati pa masabata 10 ndi 12 a mimba.
Mayesero onse awiri a ultrasound ndi amayi omwe ali ndi amayi ndizoyesedwa. Mosiyana ndi zimenezi, amniocentesis ndi CVS amaonedwa ngati akuyesedwa. Kuyezetsa magazi sikungakupatseni chitsimikizo chokwanira-chimakuuzani ngati muli ndi chiopsezo chachikulu chokhala ndi mwana yemwe ali ndi matenda a Down syndrome. Komano, mayesero a chidziwitso amakupatsani chidziwitso chotsimikizika.
Zofufuza za Ultrasound mu Down Syndrome
An ultrasound, amadziwanso ngati sonogram, ndi mayeso omwe amachitidwa panthawi yomwe ali ndi pakati omwe amagwiritsa ntchito mafunde kuti apange chithunzi kapena fano la mwanayo. Nthaŵi zina, koma nthawi zonse, makanda omwe ali ndi Down syndrome amasonyeza zizindikiro zodabwitsa pa ultrasound zomwe zingachititse dokotala wanu kuganiza kuti mwanayo ali ndi matenda a Down syndrome.
Zina mwazizindikiro zowononga zimaphatikizapo kuchepa kwa msinkhu (fupa pamlendo), kuwonjezeka khungu kumbuyo kwa khosi (kutchedwa nuchal translucence), kapena kupezeka kwa mphuno pakhosi. Izi ndi zomwe zimatchulidwa kuti "zolembera zofewa" chifukwa palibe zotsatirazi zomwe zimapangitsa mwanayo kukhala ndi mavuto okha. Komabe, akhoza kupanga dokotala kuti akuganiza kuti mwanayo ali ndi matenda a Down syndrome. Zizindikiro zina zoopsa zomwe zimawoneka pa ultrasound zimaphatikizapo zofooka za mtima ndi m'mimba.
Komabe, matenda otchedwa Down syndrome sangathe kupezeka chifukwa cha zofufuza za ultrasound zokha. Zotsatirazi zikusonyeza kuti pali chiopsezo chachikulu kuti mwanayo akhoza kukhala ndi matenda a Down syndrome. Malinga ndi chiopsezo ichi, dokotala wanu angakulimbikitseni kuti muganizire amniocentesis kapena CVS kuti mutsimikizire kuti mumapezeka zotani. Ndi kwa inu kusankha ngati mulibe yesero kapena ayi.
Ndikofunika kuzindikira kuti fetus ambiri omwe ali ndi matenda a Down syndrome amasonyeza kuti sizinali zachilendo pa ultrasound. Kawirikawiri anthu amatsimikiziridwa zabodza ndi yachibadwa ultrasound chifukwa amakhulupirira kuti palibe vuto ndi mwanayo. Tsoka ilo, izi si zoona.
Kukhala ndi ultrasound yachibadwa ndizabwino ndipo ndi kotonthoza mtima, koma sizitsimikizo kuti chirichonse chiri changwiro.
Maternal Serum Screening Tests Poyesa Matenda Aakulu
Kuyesera kwa magazi (kochitidwa pa amayi) nthawi zambiri kumatchedwa "quadruple screen" kungatheke pakati pa sabata la 15 ndi la 20 la mimba. Pulogalamu ya quadruple imayang'ana zinthu zinayi m'magazi a mayi:
- Alpha-fetoprotein (AFP)
- Osagwirizana ndi estriol
- Chorionic gonadotropin (hCG)
- Inhibin A
AFP imapangidwa mu yolk sac ndi fetal chiwindi, estriol imapangidwa ndi fetus ndi placenta, hCG imapangidwa mkati mwa placenta, ndipo inhibin A imapangidwa ndi placenta ndi mazira. Pamene mwana ali ndi matenda a Down syndrome, kuchuluka kwa zinthu izi m'magazi a mayi kungakhale kosiyana ndi kachitidwe kake.
Pulogalamu ya quadruple ndi-dzina lake limatanthauza-kuyesa kuyesa. Sungadziwe ngati mwana wanu ali ndi matenda a Down syndrome, koma akhoza kukuuzani ngati chiopsezo chanu chiri chapamwamba. Ngati kuyesa kwanu kuyesera, kumangotanthauza kuti mutha kukhala ndi mwana yemwe ali ndi matenda a Down syndrome ndi apamwamba kuposa azimayi ena a msinkhu wanu. Koma ngakhale ndi mayeso owonetsera bwino, amayi ambiri adzakhala ndi ana opanda matenda a Down. Kumbali ina, mawonekedwe osokoneza bongo amatanthauza kuti mwayi wa Down syndrome ndi wotsika koma osati zero. Sitikutsimikizira mwana wopanda matenda a Down.
Mayeso anayi pamodzi ndi msinkhu wa amayi akhoza kuzindikira pafupifupi 75 peresenti ya mimba yokhala ndi trisomy 21 mwa amayi osapitirira zaka 35 ndi oposa 80 peresenti ya mimba yazimayi omwe ali ndi zaka 35 kapena kuposa.
Kumapeto kwa zaka za m'ma 1990, mayesero oyambirira owonetsetsa a Downs Syndrome (ndi zina zosaoneka bwino) zinapangidwa. Mayeserowa akuphatikiza kuyeza nuchal translucency ndi ultrasound ndi mayesero a magazi awiri: chorionic gonadotropin ndi mapuloteni okhudzana ndi plasma A (PAPPA). Zotsatira za mayeserowa zikuphatikizidwa ndi msinkhu wa amayi kuti adziwe chiopsezo chomaliza cha zosawonongeka za chromosomal, kuphatikizapo trisomy 21.
Amniocentesis mu Kuzindikira Down Syndrome
Ngati kuyesa magazi poyesera kapena ultrasound kukuwonetseratu chiopsezo chowonjezeka, kapena ngati muli ndi zaka zoposa 35, mudzapatsidwa amniocenteis. Amniocenteis ndi mayeso omwe amachitika pakati pa masabata 15 ndi 20 a mimba. Zimaphatikizapo kugwiritsa ntchito singano yopyapyala yomwe imayikidwa kupyolera mu mimba yanu (osati kupyolera mu mimba yanu), kuti mupeze zina mwa amniotic madzi ozungulira mwanayo. Madzi amniotic awa ali ndi maselo a khungu la fetus. Maselo achikopawa angagwiritsidwe ntchito kupeza fetal karyotype-chithunzi cha ma chromosome a fetus. Ngati mwanayo atulukira kuti ali ndi nambala yambiri ya chromosome, ndiye kuti matenda a Down syndrome amapangidwa.
CVS pakuzindikira Down Syndrome
Chorionic villi sampling kapena CVS ndi ndondomeko yomwe imachitika pamasabata 11 mpaka 13 a mimba. Mwa njira iyi, singano yopyapyala kapena catheter imayikidwa mu placenta kuti ipeze maselo ena. Mphakayi amachokera ku maselo omwe amapanga mwana, kotero poyang'ana pa maselo a placenta, mumayang'ananso maselo a mwana wosabadwayo. Maselo amenewa amatumizidwa ku labu yowunika kwa chromosome. Ngati karyotype imasonyeza kuti mwanayo ali ndi nambala yambiri ya chromosome, ndiye kuti mwanayo ali ndi Down syndrome.
Amniocentesis ndi CVS ndizoyesera zokha panthawi ya mimba-ndi kwa inu kuti mudziwe ngati phindu la kudziwa za chromosome ya mwana wanu limaposa chiopsezo cha njirayi. Njira ziwirizi zimakhala ndi zochepa za kupititsa padera. Mavutowa ndi osachepera 1 peresenti ya amniocenteis ndi pafupifupi 1 mpaka 2 peresenti ya CVS. Azimayi ena amakonda CVS kwa amniocentesis chifukwa amafuna kupeza zambiri poyamba pamene ali ndi mimba, ndipo ena amakonda amniocentesis chifukwa cha chiopsezo chochepa cha kuperewera kwa amayi. Ndiwo okha amene mungasankhe zomwe zili zabwino kwa inu.
> Zotsatira:
> Mgwirizano wa Amayi a ku America. (2016). Chiyeso cha Screen Quad.
> National Institute of Child Health and Development (NICHD). Down Syndrome: Chidziwitso Chachikhalidwe.
> Simpson JL. Njira zowonjezereka za matenda opatsirana pogonana: tsogolo lililonse lamanzere? Best Best Clinic Obstet Gynaecol . 2012 Oct; 26 (5): 625-38.
> Smith M, Visootsak J. Noninvasive zipangizo zowunika za Down syndrome: ndemanga. Int J Womens Health . 2013; 5: 125-31.
> Zolotor AJ, Carlough MC. Sinthani pa chisamaliro chakumayi. Am Phys Physician . 2014 Feb 1; 89 (3): 199-208.