Trisomy a kan 21st chromosome, ko Down's Syndrome, shi ne mafi yawan al'ada irin kwayoyin halitta da ke faruwa a game da 1 daga 800 yara haife. Masana kimiyya sun gano cewa cutar ta hanyar rarraba chromosomes ba daidai ba, wanda ya haifar da haƙuri, maimakon nau'i biyu na 21 chromosome, akwai uku. Don tsammanin bayyanar yanayin ilimin cututtuka ba zai yiwu ba, yana da tabbas cewa wani ɓangaren mutum a cikin 21st chromosome yana nufin wani abu ba tare da wani tunanin tunanin mutum, yanayin jiki da kuma halin da ke tsangwama ga ci gaban al'ada da kasancewar yaro mara lafiya ba.
Dangane da abin da ke sama, yana da wuyar ɗaukar muhimmancin ganewar ganewa, wanda ya bari a cikin utero don ƙayyade haɗarin ƙwayar cuta 21 ta alamun alaƙa.
Binciken farko na shekaru uku
Yayi la'akari da hanyoyin da ba a rushe ba, kuma ya ƙunshi duban dan tayi da kuma nazarin kwayoyin jini na jini. Mafi kyawun lokaci don yin nazari na farko shine 12-13 makonni.
A lokacin nazarin ilimin duban dan tayi, kwararru na kula da girman girman yanki, wanda shine alamar halayyar kasancewar hauka. Wato, dangane da wanene mako na ciki da kuma daidaituwa daidai da ita, alamar trisomy 21 na iya zama fadada sararin samaniya ta fiye da 5 mm.
Hakanan, ana binciken jinin mace don nau'i biyu: kyauta b-HCG da RARR-A. Domin ma'auni na auna na alamun nazarin ya ɗauki - MoM. Abubuwan da aka samu sune idan aka kwatanta da dabi'u na al'ada: Trisomy 21 na iya nuna matakin ƙãra na b-hCG - fiye da 2 M0Ma, kuma ƙaddamarwar PAPP-A ba kasa da 0.5MM ba.
Duk da haka, bisa sakamakon sakamakon binciken farko, ba zai yiwu ba a kawo karshen ƙaddara, saboda wannan abu ne mai nuna alama wanda bazai la'akari da wasu abubuwan da ke tasiri irin wadannan kwayoyin halittar ba. A gare su yana yiwuwa a ɗauka: kalmar da ba daidai ba a lokacin ciki, nauyin uwarsa, ƙarfin nauyin halitta, shan taba.
Na biyu na zancewa
A cikin tazarar tsakanin makonni 15-20, an yi ƙoƙari na biyu don tantance kwayoyin halitta. Wannan lokacin yana dauke da ƙarin bayani, saboda yawancin hakki za'a iya gani a lokacin duban dan tayi. Alal misali, a cikin tayin da trisomy a kan chromosomes 21 sun bambanta da na al'ada: tsawon tsinkar zafi da kuma mace, girman layin na hanci, girman adadi, da kuma wani lokacin lahani na gani na zuciya, gastrointestinal tract ko cyst na kwakwalwa na kwakwalwa na kwakwalwa.
An yi nazarin jini na mace mai ciki ga matakin AFP, wanda shine alama mai haske na ilimin lissafi na tayin. Idan, sakamakon sakamakon binciken na biyu, an gano AFP a kasa da na al'ada, to wannan zai iya nuna alamar kututture a kan chromosomes 21.
Sakamakon da aka samo idan aka kwatanta da sakamakon bincike na farko, idan hadarin ya isa sosai, mace mai ciki tana sanya wasu hanyoyin nazarin.
Hanyoyi masu kullun don ƙayyade ƙananan halayen chromosomal
Ƙari mafi kyau, amma har hanyoyi mafi haɗari don gano ƙwayoyin cuta shine:
- amniocentesis - na nufin sokin murfin ciki tare da allurar bakin ciki da shinge na ruwa mai amniotic, wanda aka bincika a nan gaba;
- Chopion biopsy yana da kyakkyawan hanyar ingantaccen tsarin aiki A matsayinka na mulki, ana yin samfurori na kwayoyin villi da ƙwayoyin placenta a makonni 11-12, ta hanyar shinge rami na ciki, ko ta amfani da catheter ta cikin farji;
- samfurin samfurori na umbilical, an yi ba a baya fiye da mako 18 na ciki ba.
Hanyoyin hanzari, ko da yake suna bada izinin tabbatar da ƙaddamar da kwayar cutar kwayar cuta, amma a lokaci guda suna ɗauke da hadarin rashin ƙarancin ciki.