Trisomy 18

Txhua leej txhua tus paub hais tias tib neeg kev noj qab haus huv nyob ntawm ntau ntau ntawm cov txheej chromosomes uas muaj nyob rau hauv cov leeg ua ke ntawm tib neeg cov DNA. Tab sis yog tias muaj ntau ntawm lawv, piv txwv 3, ces qhov tshwm sim no yog hu ua "trisomy." Nyob ntawm seb tus khub qhov kev nce qib nce li cas, tus kab mob tseem hu ua. Feem ntau cov teebmeem no tshwm sim nyob rau kis 13, 18 thiab 21st.

Hauv tsab xov xwm, peb yuav tham txog trisomy 18, uas yog hu ua Edwards syndrome.

Yuav ua li cas mus ntes trisomy rau chromosome 18?

Txhawm rau txhawm rau txhawm rau txhawm rau kev loj hlob ntawm tus menyuam hauv qib qis, zoo li trisomy 18, tuaj yeem ua tau los ntawm kev kuaj xyuas thaum 12-13 thiab 16-18 lub lim piam (piv txwv tias hnub muab xa mus rau 1 lub lim tiam). Nws muaj xws li kuaj ntshav biochemical thiab ultrasound.

Txoj kev pheej hmoo ntawm tus me nyuam muaj lub trisomy 18 nyob hauv tus me nyuam rau qhov sib txawv me ntsis ntawm qhov txiaj ntsim zoo ntawm cov tshuaj hormone b-hCG (neeg chorionic gonadotropin). Rau txhua lub lim tiam, qhov ntsuas yog txawv. Yog li, kom tau qhov tseeb tshaj plaws cov lus teb, koj yuav tsum paub txog lub sijhawm koj cev xeeb tub. Koj tuaj yeem saib xyuas cov qauv hauv qab no:

Hauv ob peb hnub tom qab qhov kev kuaj sim, koj yuav tau txais qhov tshwm sim thaum twg nws yuav raug qhia, qhov koj qhov muaj peev xwm muaj qhov trisomy 18 thiab lwm yam kev txawv txav ntawm tus me nyuam hauv plab. Lawv tuaj yeem qis, qis dua lossis nce. Tab sis qhov no tsis yog qhov tseeb, vim tias qhov tshwm sim qis dua tau tshwm sim.

Thaum muaj kev pheej hmoo siab, koj yuav tsum tham nrog ib tug kws kho mob geneticist uas yuav muab ntau txoj kev tshawb fawb kom paub tseeb seb puas muaj los yog tsis yog hloov ntawm chromosomes.

Cov tsos mob ntawm trisomy 18

Vim tias qhov kev kuaj xyuas yog them nqi thiab feem ntau ua rau muaj kev tshwm sim tsis zoo, tsis yog txhua tus poj niam cev xeeb tub ua. Tom qab ntawd tus mob Edwards syndrome nyob hauv tus me nyuam tuaj yeem txiav txim tau los ntawm qee qhov tshwm sim sab nraud:

  1. Ua kom ntev zog ntawm cev xeeb tub (42 lub lim piam), thaum lub sijhawm uas tsis muaj zog hauv plab thiab polyhydramnios raug kuaj xyuas.
  2. Thaum yug me nyuam, tus me nyuam muaj lub cev me me (2-2.5 kg), lub taub hau peculiar (dolichocephalic), ib lub ntsej muag tsis zoo (lub hauv pliaj, lub qhov muag qhov ntswg thiab qhov ncauj), thiab khawm nrawm thiab cov ntiv tes khoo.
  3. Qhov txawv txav ntawm cov pob txha thiab kev siab phem ntawm cov hauv nruab nrog cev (tshwj xeeb tshaj yog lub plawv) raug pom.
  4. Vim cov menyuam muaj lub cev trisomi 18 muaj kev loj hlob txawv txav, lawv nyob rau lub sijhawm luv luv xwb (tom qab 10 xyoo tsuas yog 10% ntawm lawv nyob).