Kodi pali vuto ndi ma chromosome a mwana wanu? Tiyeni tikambirane za Aneuploidy mwachidule!

Ndi zachilendo kwa inu, omwe mukuyembekezera kukhala mayi, kukhala ndi nkhawa zambiri ndi mantha pazinthu panthawiyi. Makamaka mukaganizira za thanzi la mwana wamng'ono m'mimba mwanu. Nthawi zina timafunsa madokotala, kapena anthu omwe ali pansi pathu, za "matenda a majini" kapena "mavuto a chromosome." Ndicho chimene tikambirane lero, vuto lotchedwa Aneuploidy . Dzinalo lingamveke ngati nkhani yaikulu, koma musadandaule. Tikambirana izi mosavuta, mwanjira yomwe mungamvetse.

Kodi ma chromosome ndi chiyani? Tiyeni timvetse mosavuta.

Tangoganizirani, selo lililonse laling'ono m'thupi lathu lili ndi tinthu tating'onoting'ono ta ulusi mkati mwake. Ndicho chimene timatcha ma chromosome . M'kati mwa ma chromosome amenewa muli DNA yathu, yomwe ndi yofunika kwambiri. Monga pulogalamu ya pakompyuta, DNA iyi ili ndi malangizo ndi chidziwitso chonse chomwe thupi lathu limafunikira kuti likule, likule, ndikuchita chilichonse. Timalandira malangizo awa kuchokera kwa amayi ndi abambo athu. Ndicho chifukwa chake nthawi zina timaoneka ngati amayi athu, nthawi zina ngati abambo athu, ndipo nthawi zina timasakaniza zonse ziwiri.

Ine ndi inu, tonse tinalandira ma chromosome 23 kuchokera kwa amayi athu ndi 23 kuchokera kwa abambo athu, zomwe zikutanthauza ma chromosome 46. Awa amakonzedwa m'magulu awiriawiri mkati mwa maselo athu; kutanthauza, ma awiriawiri 23. Mwa awa, ma awiriawiri 22 ndi ofanana kwa aliyense. Ma awiriwa omaliza amatsimikiza ngati ndife akazi kapena amuna. Nthawi zambiri, ngati ndi mtsikana, amakonzedwa ngati XX , ndipo ngati ndi mnyamata, amakonzedwa ngati XY .

Maselo athu a thupi amasinthidwa nthawi zonse. Maselo akale akamwalira, maselo atsopano amapangidwa. Timatcha kugawikana kwa maselo kumeneku. Ndi njira yosavuta, monga 'mumakopera' ndi 'kumata' pa kompyuta. Maselo akagawikana motere, ma chromosome omwe tidalankhula amakhala ofanana, ndipo amalowa m'maselo awiri atsopano omwe amapangidwa. Izi zimachitika m'miyoyo yathu yonse. Komanso, maselo oyambira omwe amafunikira kuti apange mwana watsopano, kutanthauza dzira la mayi ndi umuna wa abambo, kugawikana kwa maselo kumeneku kumachitikanso. Komabe, nthawi zina pangakhale zolakwika zazing'ono ndi zofooka mu kugawikana kwa ma chromosome kumeneku. Chiwerengero chenicheni cha ma chromosome omwe ayenera kugawidwa sichingakhale chofanana. Ngati zimenezo zitachitika, maselo ena sapeza chiwerengero chenicheni cha ma chromosome omwe ayenera kugawidwa. Ndicho chifukwa chachikulu cha matenda a majini monga (Turner syndrome) kapena (Down syndrome) .

Ndiye, ichi ndi chiyani (aneuploidy)?

Mwachidule, aneuploidy ndi kusowa kwa chiwerengero cholondola cha ma chromosome m'maselo athu, omwe ndi 46. Nthawi zambiri, vutoli limachitika chifukwa cha cholakwika chaching'ono chomwe chimachitika dzira la mayi kapena umuna wa bambo ukapangidwa. Kenako, mwana akayamba kukula, amayamba ndi kusintha kwa chiwerengero cha ma chromosome.

Pali zinthu ziwiri zomwe zingachitike mu izi:

1.Trisomy: Izi zikutanthauza kuti pali kopi yowonjezera ya chromosome imodzi, zomwe zimapangitsa kuti pakhale ma chromosome 47.

2. Monosomy: Izi zikutanthauza kuti chromosome imodzi ikusowa, zomwe zimapangitsa kuti pakhale ma chromosome 45.

Mwana akatenga pakati ndi vuto la mtundu uwu wa chromosome, nthawi zambiri mimbayo simatha bwino. Pali chiopsezo chachikulu cha kutaya mimba . Ndipotu, kafukufuku wapeza kuti vutoli (aneuploidy) ndilo limayambitsa pafupifupi theka la kutaya mimba konse komwe kumachitika mkati mwa trimester yoyamba.

Kodi mitundu ikuluikulu ya aneuploidy ndi iti?

Monga tanenera kale, pali mitundu iwiri ikuluikulu ya aneuploidy: Trisomy ndi Monosomy.

Trisomy

Trisomy imatanthauza kuti mwana ali ndi chromosome yowonjezera, zomwe zimapangitsa kuti chiwerengero chonse cha ma chromosome chifike pa 47. Pali zifukwa zingapo zazikulu zomwe zingachitike chifukwa cha izi:

• Down syndrome: Iyi ndi vuto lomwe timamva kwambiri. Chomwe chimachitika apa ndi chakuti pali kopi yowonjezera ya chromosome 21. Izi zikutanthauza kuti pali makope atatu a chromosome 21. Izi zimatchedwanso (Trisomy 21) .
• (Trisomy 18) Trisomy 18: Apa ndi pomwe pali kopi yowonjezera ya chromosome 18. Poyamba imadziwika kuti Edwards syndrome , vutoli lingayambitse mavuto ambiri azaumoyo mwa makanda obadwa ndi vutoli.
• (Trisomy 13) Trisomy 13: Apa ndi pomwe pali kopi yowonjezera ya chromosome 13. Poyamba imadziwika kuti Patau syndrome , iyi ndi vuto lomwe limayambitsa mavuto aakulu azaumoyo.

Monosomy

Monosomy imatanthauza kuti mwana amalandira chromosome imodzi yocheperako. Izi zimapangitsa kuti pakhale ma chromosome 45. Mavuto akuluakulu omwe amabwera chifukwa cha izi ndi awa:

• Matenda a Turner: Imeneyi ndi matenda a chromosome yogonana. Nthawi zambiri, mwana wamkazi amakhala ndi ma chromosome awiri a X (XX). Mwana wamkazi wokhala ndi matenda a Turner amakhala ndi chromosome imodzi yokha ya X. Izi zimatchedwa (Monosomy X) . Popeza palibe chromosome ya Y, ana awa amabadwa ali atsikana.

Ndani amene angakhudzidwe kwambiri ndi vutoli?

Ndipotu, vuto lotchedwa aneuploidy lingakhudze mwana aliyense . Limachitika mwangozi. Komabe, kafukufuku wina wapeza kuti chiopsezocho chimawonjezeka pang'ono pamene mayi akukalamba . Mwachitsanzo, mayi wazaka 20 ali ndi mwayi umodzi pa 1,480 wokhala ndi mwana wokhala ndi vuto la chromosome, pomwe mayi wazaka 40 ali ndi mwayi umodzi pa 65. Komabe, izi sizikutanthauza kuti amayi aang'ono sali pachiwopsezo. Pankhani ya Turner syndrome, akuti ukalamba suchita gawo lalikulu.

Ndicho chifukwa chake, ngati mukuganiza zokhala ndi mwana, lankhulani ndi dokotala ndipo mupeze upangiri wa majini.Ndikofunikira kwambiri kupeza. Kenako mutha kudziwa bwino za izi pasadakhale, kumvetsetsa zoopsa zanu, komanso kukambirana za mayeso ofunikira.

Kodi aneuploidy ndi yofala bwanji? Kodi pali kugwirizana pakati pa kutaya mimba?

Kusakhazikika kwa aneuploidy ndi chromosomal ndi kofala kwambiri kuposa momwe timaganizira. Kumachitika pafupifupi mimba imodzi mwa 150 zilizonse . Aneuploidy ndiyenso amachititsa pafupifupi 50% ya kutayika mimba msanga . Izi zikutanthauza kuti nthawi zambiri, chilengedwe chimathetsa mimba ndi vuto la chromosomal m'malo mopitiriza.

Kodi aneuploidy ingakhudze bwanji mimba?

Kukhala ndi chromosome yowonjezera (Trisomy) kapena kusowa kwa chromosome (Monosomy) zonsezi zingakhudze mimba m'njira zosiyanasiyana.

Trisomy:

Mimba yambiri yokhala ndi trisomy imatha kubweretsa mimba yosabereka . Kafukufuku akusonyeza kuti pafupifupi 35% ya mimba zonse zomwe zimatuluka chifukwa cha trisomy. Komabe, nthawi zambiri, pafupifupi 1% ya makanda amabadwa ndi matenda a trisomy. Pakati pawo, omwe amapezeka kwambiri ndi makanda omwe ali ndi (Trisomy 21) kapena (Down syndrome). Ngati mwana wabadwa ndi matenda a trisomy otere, kuchuluka kwa moyo wa mwana kungakhale kochepa kuposa kwa mwana wamba. Izi zimachitika chifukwa cha mavuto osiyanasiyana komanso zilema zobadwa nazo zomwe zimachitika pobadwa.

Monosomy:

Matenda a monosomy ndi osowa kwambiri kuposa matenda a trisomies. Malinga ndi zomwe zikudziwika, matenda a Monosomy X okha, kapena Turner, ndi omwe amachititsa kubadwa kwa mwana wamoyo. Matenda a Turner amapezeka pamene pali chromosome imodzi yokha ya X. Chifukwa palibe chromosome ya Y, ana awa amabadwa ali atsikana.

Kodi zizindikiro za aneuploidy ndi ziti?

Chizindikiro chofala kwambiri cha aneuploidy ndi kutaya mimba . Izi zimachitika mimba ikatha pakati pa nthawi yobereka. Izi nthawi zambiri zimachitika mu trimester yoyamba, koma nthawi zina zimatha kuchitika pambuyo pake. Zizindikiro za kutaya mimba ndi izi:

• Kukhala ndi ululu m'mimba ndi msana.
• Kupweteka m'mimba monga nthawi ya msambo.
• Mwina pang'ono, mwina kutuluka magazi ambiri.

Chofunika: Ngati mukuganiza kuti muli ndi zizindikiro izi, muyenera kuwona dokotala nthawi yomweyo.

Komabe, ngakhale kuti pafupifupi 50% ya mimba zomwe zimapita padera zimayambitsidwa ndi zifukwa za majini monga aneuploidy, nthawi zina makanda amatha kubadwa ndi vutoli. Makanda otere amakhala ndi zilema zobadwa nazo , komanso kuchedwa kukula ndi kulephera kwa nzeru .

N’chifukwa chiyani izi (aneuploidy) zimachitika? Kodi zimayambitsa chiyani?

Aneuploidy ndi vuto la majini. Nthawi zambiri, vutoli limachitika dzira la mayi lisanagwirizane ndipo umuna wa bambo usanagwirizane, kutanthauza kuti, panthawi yopanga dzira ndi umuna. Tinakambirana kale za kugawikana kwa maselo. Mazira ndi umuna zimapangidwa ndi njira yapadera yogawa maselo yotchedwa meiosis . Pano, selo yokhala ndi ma chromosome 46 imagawikana kawiri, ndikupanga maselo anayi (mazira kapena umuna) okhala ndi ma chromosome 23 iliyonse. Aneuploidy imachitika pamene ma chromosome awiriwa sakulekanitsidwa bwino panthawi ya meiosis iyi, ndipo mazira ena kapena umuna uli ndi ma chromosome ambiri kapena ochepa kwambiri.

Izi zimachitika mwangozi komanso mosayembekezereka . Monga momwe chosindikizira mu ofesi nthawi zina chimasiya kugwira ntchito mwadzidzidzi, kapena pepala losindikizidwa pamalo pake, DNA yathu imathanso kukhala ndi zolakwika zotere. Palibe amene anganene nthawi kapena momwe zidzachitikire. Ngati mukufuna kudziwa zambiri za izi, ndi bwino kulankhula ndi dokotala ndikupeza upangiri wa majini.

Kodi pali mayeso omwe angathandize kuzindikira aneuploidy panthawi ya mimba?

Inde, pali mayeso angapo omwe angachite panthawi ya mimba kuti adziwe ngati mwana ali ndi vuto lotchedwa aneuploidy. Ena mwa mayesowa ndi mayeso owunikira, pomwe ena ndi mayeso ozindikira matenda.

• Kuyezetsa magazi kwa mwana wosabadwa (NIPT) / Kuyezetsa magazi kwa mwana wosabadwa (NIPS): Uku ndi kuyezetsa magazi kosavuta komwe kungathe kuchitika patatha milungu 10 ya mimba. Kumatenga chitsanzo cha magazi a mayi ndikuyang'ana DNA ya mwana kuti awone momwe angachitire ndi matenda monga Down syndrome, Trisomy 18, ndi Trisomy 13. Izi zimangokuuzani zoopsa zake, osati chifukwa chenicheni.
• Kuyesa kwa Chorionic Villus Sampling (CVS): Iyi ndi mayeso omwe amachitidwa pakati pa milungu 10 ndi 13 ya mimba. Apa, dokotala amatenga chitsanzo chaching'ono kwambiri cha maselo kuchokera ku placenta ndikuyesa matenda a majini. Izi zimatha kuzindikira molondola matenda monga aneuploidy. Komabe, zimakhala ndi chiopsezo chochepa kwambiri chotaya mimba.
• Amniocentesis: Iyi ndi mayeso omwe nthawi zambiri amachitidwa pakati pa milungu 15 ndi 20 ya mimba. Apa, dokotala amatenga chitsanzo cha madzi amniotic ozungulira mwana ndikuwunika maselo a mwana omwe ali mmenemo. Izi zitha kuzindikiranso molondola matenda monga aneuploidy ndi zilema zina zobadwa nazo. Palinso chiopsezo chochepa kwambiri cha kutaya mimba.

Musanapange chisankho chokhudza mayesowa, ndikofunikira kwambiri kukambirana mosamala ndi dokotala wanu ndikumvetsetsa zabwino ndi zoyipa zake.

Kodi Aneuploidy amachiritsidwa bwanji?

Ndipotu, palibe chithandizo chapadera cha vutoli (Aneuploidy).Matenda ambiri a aneuploidy ndi oopsa kwa mwana, kapena amayambitsa mavuto aakulu monga kulumala kwa maganizo ndi zilema zakuthupi. Chifukwa chake, chithandizo chimayang'ana kuchiza zizindikiro ndi mavuto a mwana aliyense. Izi zikutanthauza kupanga dongosolo la chithandizo lomwe limagwirizana ndi mwana aliyense ndikukhala wathanzi.

Ngati muli ndi pakati, pali chiopsezo chotaya mimba chifukwa cha (aneuploidy). Kutaya mimba ndi vuto lalikulu kwa mkazi, mwakuthupi komanso m'maganizo. Ngati izi zitachitika, muyenera kudzipatsa nthawi kuti muchire.

Ngati mukuganiza zoyambitsa banja, lankhulani ndi dokotala za kuyezetsa majini ndi njira zowonjezera mwayi wanu woti mukhale ndi pakati bwino.

Kodi pali chilichonse chomwe tingachite kuti tichepetse chiopsezo cha aneuploidy?

Aneuploidy singathe kupewedwa kotheratu chifukwa ndi vuto la majini losakhazikika. Komabe, pali zinthu zingapo zomwe tingachite kuti tichepetse chiopsezo cha mwana kukhala ndi vuto lobadwa nalo:

• Kudya chakudya chopatsa thanzi: Kudya chakudya chopatsa thanzi n'kofunika kwambiri panthawi ya mimba.
• Yesani kuyezetsa majini musanakonzekere kutenga pakati: Makamaka ngati wina m'banja mwanu ali ndi matenda a majini, kapena ngati muli ndi zaka zoposa 35.
• Pewani kusuta fodya ndi kumwa mowa kotheratu.
• Kumwa mavitamini ofunikira a mwana asanabadwe omwe dokotala wanu akulangiza moyenera: makamaka mavitamini okhala ndi folic acid.

Ngati mwataya mimba chifukwa cha aneuploidy, kodi mungathe kutenganso mimba?

Inde, nthawi zambiri n'zotheka . Mwayi woti mimba ibwererenso chifukwa cha aneuploidy ndi wochepa kwambiri. Chifukwa, monga tanenera kale, izi zimachitika mwachisawawa. Azimayi ambiri akhala ndi ana athanzi pambuyo poti mimba yapita chifukwa cha aneuploidy. Komabe, ndi bwino kulankhula ndi dokotala wanu za zoopsa zanu komanso mayeso omwe angachitike musanayese kutenga mimba kachiwiri.

Kodi mungayembekezere chiyani ngati muli ndi mwana yemwe ali ndi aneuploidy?

Kawirikawiri, makolo akapezeka ndi vuto (aneuploidy), amakumana ndi vuto lotaya mimba. Izi zimakhala zomvetsa chisoni kwambiri. Koma chofunika kumvetsetsa ndichakuti izi zinachitika chifukwa cha vuto la majini lomwe linachitika panthawi yoyembekezera, osati chifukwa cha chilichonse chomwe mayiyo anachita panthawi yoyembekezera. Dokotala wanu adzakuthandizani kuchira mwakuthupi komanso m'maganizo mukataya mimba.

Ngati mwana wabadwa ndi aneuploidy, mwanayo akhoza kukumana ndi kuchedwa kukula , ufupi, zilema zobadwa nazo, komanso kulumala kwa maganizo m'moyo wake wonse. Chifukwa chake, ndikofunikira kwambiri kuwunika thanzi la mwanayo nthawi zonse ndi dokotala ndikupereka chithandizo ndi chithandizo chofunikira. Palibe mankhwala athunthu a aneuploidy.

Kodi muyenera kupita kwa dokotala liti?

• Muli ndi zizindikiro za mimba yomwe yapita.Ngati muli ndi zizindikiro zilizonse (kupweteka m'mimba, kupweteka kwa msana, kutuluka magazi), pitani kwa dokotala nthawi yomweyo. Iye adzakuuzani ngati muyenera kupita kuchipatala kapena ayi.
• Mukapita padera, ngati mukukumana ndi zizindikiro izi, pitani kwa dokotala nthawi yomweyo, chifukwa zikhoza kukhala chizindikiro cha matenda:
• Ngati muli ndi chimfine ndi malungo (Chimfine, Malungo)
• Ngati mukutuluka magazi ambiri (Kutuluka magazi ambiri)
• Ngati mukumva kupweteka komanso kusasangalala pafupipafupi

Kodi ndi mafunso otani ofunika kufunsa dokotala wanu?

Mukalankhula ndi dokotala za izi, musaiwale kufunsa mafunso awa:

• Kodi ndili pachiwopsezo chokhala ndi mwana wokhala ndi matenda a majini?
• Pambuyo poti ndataya mimba chifukwa cha aneuploidy, kodi thupi langa lili ndi thanzi labwino moti ndingathe kubereka mwana wina?
• Ngati ndili pachiwopsezo chokhala ndi mwana wokhala ndi matenda a majini, kodi mumalimbikitsa kuyezetsa magazi nthawi zina asanabadwe?

Kodi kusiyana pakati pa (Aneuploidy) ndi (Polyploidy) ndi kotani?

Aneuploidy ndi polyploidy zonse ndi matenda a majini omwe amabwera chifukwa cha kusintha kwa chiwerengero cha ma chromosome mu DNA ya mwana. Koma pali kusiyana pang'ono.

• Aneuploidy ndi kukhalapo kwa chromosome imodzi yowonjezera (monga 47) kapena chromosome imodzi yocheperako (monga 45). Nthawi zambiri, ma chromosome angapo sakhalapo/amawonjezeredwa.
• Polyploidy ndi mkhalidwe wokhala ndi ma chromosome owonjezera (monga ma chromosome 23). Mwachitsanzo, ngati mumalandira ma chromosome 23 kuchokera kwa amayi anu ndi ma chromosome 46 kuchokera kwa abambo anu (monga kawiri chiwerengero chachibadwa), amatchedwa Triploidy. Izi ndi matenda osowa kwambiri ndipo nthawi zambiri amapha.

Pomaliza, zinthu zofunika kukumbukira (Uthenga Wopita Nawo Kunyumba)

Aneuploidy ingakhale yoopsa mukamva za izi. Koma kumbukirani, nthawi zambiri zimachitika mwangozi, osati chifukwa cha inu nokha. Monga momwe kompyuta yomwe timagwiritsa ntchito imasiya kugwira ntchito mwadzidzidzi, ngakhale maselo athu akagawikana, zolakwika zazing'ono nthawi zina zimachitika.

Chofunika kwambiri ndikudziwa kuti simuli nokha. Pali madokotala, abale, ndi abwenzi omwe angakambirane za izi, kukupatsani upangiri, ndikukuthandizani. Ngati mukukonzekera kutenga pakati, kapena muli kale ndi pakati, lankhulani momasuka za izi ndi dokotala wanu. Pezani upangiri wa majini. Izi zikuthandizani kumvetsetsa matenda monga aneuploidy, zoopsa zanu, ndi mayeso omwe angachitike. Komanso, ngati mukukumana ndi vuto loopsa monga kutaya mimba, musazengereze kupeza chithandizo chomwe mukufuna kuti muchiritse mwakuthupi komanso m'maganizo.

Tikukhulupirira kuti zonse zikuyenda bwino!

Ma chromosome, aneuploidy, majini, mimba, kutayika kwa mimba, Down syndrome, Turner syndrome, trisomy, monosomy, kuyezetsa majini, zilema zobadwa nazo, DNA, kugawikana kwa maselo