Zamkatimu
Trisomy 21 (Down Syndrome)
Trisomy 21, yomwe imatchedwanso Down Syndrome, ndi matenda omwe amayamba chifukwa cha kusokonekera kwa ma chromosome (maselo omwe amakhala ndi chibadwa cha thupi). Anthu omwe ali ndi matenda a Down ali ndi ma chromosome atatu 21 m'malo mwa awiri okha. Kusalinganika kumeneku pakugwira ntchito kwa majeremusi (zambiri zonse zobadwa nazo zomwe zimapezeka m'maselo amunthu) ndi zamoyo zimayambitsa kuchedwa kwamalingaliro ndi kuchedwa kwachitukuko.
Down's syndrome imatha kukhala yovuta kwambiri. Matendawa akudziwika bwino kwambiri ndipo kuchitapo kanthu mwamsanga kungapangitse kusiyana kwakukulu pa umoyo wa ana ndi akuluakulu omwe ali ndi matendawa. Nthawi zambiri matendawa si obadwa nawo, ndiko kunena kuti samapatsirana kuchokera kwa makolo kupita kwa ana awo.
Mongolism, Down Syndrome ndi Trisomy 21 Down Syndrome idatchedwa dzina la dokotala wachingelezi John Langdon Down yemwe adafalitsa mu 1866 malongosoledwe oyamba a anthu omwe ali ndi matenda a Down. Pamaso pake, madokotala ena a ku France adaziwona. Popeza odwalawa ali ndi maonekedwe a anthu a ku Mongolia, ndiye kuti, mutu waung'ono, nkhope yozungulira ndi yosalala yokhala ndi maso otsetsereka ndi otambasula, matendawa amatchedwa "chitsiru cha Mongoloid" kapena Chimongolia. Masiku ano, chipembedzo ichi ndi chodetsa nkhawa. Mu 1958, dokotala wa ku France Jérôme Lejeune anazindikira chomwe chimayambitsa matenda a Down syndrome, chomwe ndi chromosome yowonjezera pa 21.st ma chromosomes. Kwa nthawi yoyamba, ulalo wakhazikitsidwa pakati pa kuchedwa kwamalingaliro ndi kusakhazikika kwa chromosomal. Kupeza kumeneku kunatsegula mwayi watsopano womvetsetsa ndi kuchiza matenda ambiri amisala omwe adachokera ku chibadwa. |
Zomwe zimayambitsa
Selo lililonse la munthu lili ndi ma chromosome 46 opangidwa m'magulu 23 momwe majini amapezekamo. Dzira ndi umuna zikakumana, kholo lililonse limapatsira mwana wawo ma chromosome 23, m’mawu ena, theka la majini awo. Down's syndrome imayamba chifukwa cha kukhalapo kwa chromosome 21 yachitatu, yomwe imayamba chifukwa cha kusokonekera pagawo la ma cell.
Chromosome 21 ndi yaying'ono kwambiri mwa ma chromosome: ili ndi majini pafupifupi 300. Mu 95% ya milandu ya Down's syndrome, chromosome yowonjezerekayi imapezeka m'maselo onse a thupi la omwe akhudzidwa.
Mitundu yosowa kwambiri ya Down syndrome imayamba chifukwa cha zovuta zina pakugawikana kwa ma cell. Pafupifupi 2 peresenti ya anthu omwe ali ndi matenda a Down syndrome, ma chromosome ochulukirapo amapezeka m'maselo ena a thupi. Izi zimatchedwa mosaic trisomy 21. Pafupifupi 3% ya anthu omwe ali ndi Down's syndrome, gawo limodzi lokha la chromosome 21 ndi lochulukirapo. Ichi ndi trisomy 21 ndi translocation.
Kukula
Ku France, trisomy 21 ndiye chomwe chimayambitsa kulumala kwamaganizidwe a chibadwa. Pali anthu pafupifupi 50 omwe ali ndi matenda a Down syndrome. Matendawa amakhudza 000 mwa obadwa 21 mpaka 1.
Malinga ndi Unduna wa Zaumoyo ku Quebec, Down's syndrome imakhudza pafupifupi 21 mwa mwana mmodzi wobadwa. Mayi aliyense akhoza kukhala ndi mwana yemwe ali ndi matenda a Down syndrome, koma mwayiwu umawonjezeka ndi msinkhu. Pofika zaka 1, mayi akhoza kukhala ndi chiopsezo cha 770 mwa 21 chokhala ndi mwana wodwala matenda a Down syndrome. Pa zaka 20, chiopsezo ndi 1 mu 1500. Chiwopsezochi chikhoza kuchepa kuchokera ku 30 mwa 1 mpaka zaka 1000 ndi kuchoka pa 1 mu 100 mpaka 40 zaka.
matenda
Matenda a Down syndrome nthawi zambiri amapangidwa pambuyo pobadwa, mukaona momwe mwanayo alili. Komabe, kutsimikizira matenda, m'pofunika kuchita karyotype (= mayeso amene amalola kuphunzira kromosomu). Chitsanzo cha magazi a mwanayo amatengedwa kuti awunike ma chromosome m'maselo.
Mayeso oyembekezera
Pali mitundu iwiri ya mayeso oyembekezera omwe amatha kudziwa trisomy 21 asanabadwe.
The kuyesa mayeso zomwe zimapangidwira amayi onse oyembekezera, fufuzani ngati mwayi kapena chiopsezo choti mwanayo akhale ndi trisomy 21 ndi wotsika kapena wapamwamba. Kuyezetsa kumeneku kumakhala ndi chitsanzo cha magazi ndiyeno kusanthula kwa nuchal translucency, ndiko kunena kuti danga pakati pa khungu la khosi ndi msana wa mwana wosabadwayo. Kuyeza uku kumachitika panthawi ya ultrasound pakati pa masabata 11 ndi 13 a mimba. Ndizotetezeka kwa mwana wosabadwayo.
The mayeso ozindikira zomwe zimapangidwira amayi omwe ali pachiopsezo chachikulu, amasonyeza ngati mwana wosabadwayo ali ndi matendawa. Mayesowa nthawi zambiri amachitidwa pakati pa 15st ndipo 20st sabata la mimba. Kulondola kwa njirazi zowunikira matenda a Down syndrome ndi pafupifupi 98% mpaka 99%. Zotsatira zoyesa zimapezeka mu masabata a 2-3. Asanayezedwe chilichonse mwa izi, mayi wapakati ndi mkazi wake amalangizidwanso kuti akumane ndi mlangizi wa chibadwa kuti akambirane za kuopsa ndi ubwino wokhudzana ndi njirazi.
Amniocentesis
THEkutuloji amatha kudziwa motsimikiza ngati mwana wosabadwayo ali ndi matenda a Down's. Mayesowa nthawi zambiri amachitidwa pakati pa 21thst ndipo 22st sabata la mimba. Chitsanzo cha amniotic fluid kuchokera m'chiberekero cha mayi woyembekezera amatengedwa pogwiritsa ntchito singano yopyapyala yolowetsedwa pamimba. Amniocentesis imakhala ndi zovuta zina, zomwe zimatha mpaka kutayika kwa mwana wosabadwayo (1 mwa amayi 200 aliwonse amakhudzidwa). Mayesowa amaperekedwa makamaka kwa amayi omwe ali pachiwopsezo chachikulu potengera mayeso owunika.
Chorionic villus chitsanzo.
Sampling (kapena biopsy) ya chorionic villi (PVC) imapangitsa kuti zitheke kudziwa ngati mwana wosabadwayo ali ndi vuto la chromosomal monga trisomy 21. Njirayi imakhala yochotsa zidutswa za thumba lotchedwa chorionic villi. Chitsanzocho chimatengedwa kudzera pa khoma la m'mimba kapena kumaliseche pakati pa 11st ndipo 13st sabata la mimba. Njirayi imakhala ndi chiopsezo chopita padera cha 0,5 mpaka 1%.
Nkhani zaposachedwa pa Passeport Santé, mayeso atsopano otsimikizira kuti adziwe matenda a Down's https://www.passeportsante.net/fr/Actualites/Nouvelles/Fiche.aspx?doc=nouveau-test-prometteur-pour-detecter-la-trisomie-21 https://www.passeportsante.net/fr/Actualites/Nouvelles/Fiche.aspx?doc=un-test-prenatal-de-diagnostic-de-la-trisomie-21-lifecodexx-a-l-essai-en-france https://www.passeportsante.net/fr/Actualites/Nouvelles/Fiche.aspx?doc=depistage-precoce-de-la-trisomie-21-vers-une-alternative-aux-tests-actuels-20110617 |
Ma trisomies ena Mawu akuti trisomy amatanthauza kuti chromosome yonse kapena chidutswa cha chromosome chimaimiridwa katatu m'malo mwa ziwiri. Pamagulu 23 a ma chromosome omwe amapezeka m'maselo amunthu, ena amatha kukhala ndi ma trisomies athunthu kapena pang'ono. Komabe, 95% ya ana obadwa nawo amamwalira asanabadwe kapena pakangotha milungu yochepa chabe ya moyo. La trisomy 18 (kapena Edwards syndrome) ndi vuto la chromosomal lomwe limayamba chifukwa cha kupezeka kwa chromosome yowonjezera 18. Zomwe zimachitika zimayerekeza 1 mwa 6000 mpaka 8000 obadwa. La trisomy 13 ndi kusakhazikika kwa chromosomal komwe kumachitika chifukwa cha kupezeka kwa 13 chromosome yowonjezera. Zimayambitsa kuwonongeka kwa ubongo, ziwalo ndi maso, komanso kusamva. Zochitika zake zikuyerekeza 1 mwa 8000 mpaka 15000 obadwa. |
Zotsatira zake pabanja
Kufika m'banja la mwana yemwe ali ndi matenda a Down syndrome kungafunike nthawi yosintha. Anawa amafuna chisamaliro chapadera ndi chisamaliro chowonjezereka. Khalani ndi nthawi yodziwa mwana wanu ndikumupangira malo m'banja. Mwana aliyense amene ali ndi matenda a Down syndrome ali ndi umunthu wakewake ndipo amafunikira kukondedwa ndi kuthandizidwa mofanana ndi ena.