Genetic analysis panthawi ya mimba

Chaka ndi chaka padziko lapansi pali ana okwana 8 miliyoni omwe ali ndi vuto losabadwa. Inde, simungaganize za izi ndikuyembekeza kuti simudzakhudzidwa konse. Koma, chifukwa chaichi chomwe, kusanthula kwa chibadwa kumakhala kutchuka pakati pa mimba lero.

Mungathe kudalira tsogolo, koma sizingatheke kulongosola, ndipo ndibwino kuyesa kupewa vuto lalikulu m'banja. Matenda ambiri obadwa nawo angapewe ngati mukumalandira chithandizo pa nthawi yokonzekera mimba. Ndipo zonse zomwe mukusowa ndikufunsana koyambirira ndi geneticist. Pambuyo pake, ndi DNA yanu (yanu ndi mwamuna wanu) yomwe imatsimikizira thanzi lanu ndi makhalidwe a mwana wanu ...

Monga tanenera kale, nkofunika kukaonana ndi katswiri uyu pa nthawi yokonzekera mimba. Dokotala adzatha kufotokozera za tsogolo la mwana, kuwonetsa chiopsezo cha maonekedwe a matenda obadwa nawo, kukuuzani zomwe mukuphunzira ndi kuyesedwa kwa majeremusi ziyenera kuchitidwa kuti asatengere matenda obadwa nawo.

Kufufuza kwa majeremusi, komwe kumachitika panthawi yokonzekera komanso panthawi ya mimba, imasonyeza zomwe zimayambitsa kuperewera kwa amayi, zimayambitsa chiopsezo chokhala ndi ziphuphu zobadwa ndi matenda obadwa nawo m'mimba mwa mwana, motsogoleredwa ndi ziwalo za tetragonal asanakhale ndi pakati komanso panthawi ya mimba.

Onetsetsani kuti mufunsane ndi a geneticist ngati:

• mayi woyembekezera zaka zoposa 35;
• m'banja muli matenda obadwa nawo;
• anabadwa ali ndi khanda lopweteka;
• zimakhudzidwa ndi zinthu zovulaza panthawi ya pathupi kapena panthawi yoyembekezera (X-ray, kumwa mankhwala, ma radiation);
• Pakati pa mimba mayi woyembekezera anali ndi kachilombo koyambitsa matenda (toxoplasmosis, rubella, matenda opatsirana kwambiri, fuluwenza);
• ngati mkaziyo ali ndi zolepheretsa kapena kubereka;
• amayi apakati omwe ali pangozi yowonongeka kwa biochemical ndi ultrasound.

Kuyezetsa magazi ndi mayeso omwe amachitidwa panthawi yoyembekezera

Imodzi mwa njira zazikulu zodziwira zolakwira pakakula mwanayo ndi intrauterine kufufuza, zomwe zikuchitika mothandizidwa ndi kufufuza kwa ultrasound kapena biochemical. Ndi ultrasound, mwanayo amatha kusinthana - iyi ndi njira yabwino kwambiri yopanda ngozi. Yoyamba ultrasound ikuchitika pa masabata 10-14. Kale pakadali pano, n'zotheka kudziwa matenda a chromosome pathologies a fetus. Njira yachiwiri yokonzedwanso ya ultrasound ikuchitika pakatha masabata 20 mpaka 22, pamene zambiri zowonongeka kwa ziwalo za mkati, nkhope ndi miyendo ya mwanayo zatsimikizika kale. Pakatha masabata 30-32, ultrasound imathandiza kuzindikira zochepa za kukula kwa mwana, chiwerengero cha amniotic fluid ndi placenta. Pa masabata 10-13 ndi 16-20, kusanthula kwa magazi pa nthawi ya mimba kumachitika, zizindikiro zamagetsi zimatsimikiziridwa. Njira zoperekedwa pamwambazi zimatchedwa kuti sizowonongeka. Ngati matenda akupezeka m'mabukuwa, ndiye kuti njira zowonongeka zimayambika.

Mu maphunziro ovuta, madokotala "amalowa" mu chiberekero: amatenga zinthu kuti afufuze ndikuzindikira fetal karyotype ndi kulondola kwambiri, zomwe zimapangitsa kuti asatengere matenda omwe amachititsa matenda monga Down's syndrome, Edwards ndi ena. Njira zosavuta ndi izi:

• Zilonda zamakono - maselo amatengedwa kuchokera ku pulasitala yamtsogolo pogwiritsa ntchito khoma la m'mimba. Amagwira ntchito kwa milungu isanu ndi umodzi ndi itatu. Ndondomekoyi siimatha nthawi yaitali, zotsatira zake zidzakhala masiku 3-4, kutuluka padera - 2%. Koma ngati azindikira kuti matendawa amatha, ndiye kuti n'zotheka kusokoneza mimba kumayambiriro oyambirira;
• amniocentesis - kusanthula amniotic fluid pa masabata 16-24 atsikana. Iyi ndi njira yabwino kwambiri, chifukwa chiwerengero cha mavutowa sichiposa 1%. Koma zotsatira ziyenera kuyembekezera nthawi yaitali, ngati akatswiri "akukula" maselo, ndipo njirayi imatenga nthawi;
• Cordocentesis - kutuluka kwa umbilical chingwe cha mwana wosabadwa kamene kamatengera magazi, kumakhala kwa nthawi ya masabata 20-25. Uku ndiko kusanthula kolondola, komwe kumachitika masiku asanu;
• placentocenteis - zitsanzo za maselo ochokera ku placenta, omwe ali ndi maselo a fetus. Kuopsa kwa mavuto ndi 3-4%.

Pogwiritsa ntchito njirazi, chiopsezo cha mavuto ndi chachikulu, choncho chibadwa cha mimba ndi feteleza chikuchitika malinga ndi zizindikiro zochiritsira zachipatala. Kuwonjezera pa odwala omwe ali ndi gulu la chiopsezo cha majini, izi zimagwiritsidwa ntchito ndi amayi ngati ali ndi chiopsezo cha matenda, kusamutsidwa kwa zomwe zikugwirizana ndi kugonana kwa mwanayo. Kotero, mwachitsanzo, ngati mkazi ali ndi chithandizo cha jini ya hemophilia, ndiye kuti akhoza kuwapereka kwa ana ake okha. Mu phunziroli, mukhoza kuzindikira kusandulika kwa kusintha kwa thupi.

Mayeserowa amachitikira pa chipatala cha tsiku tsiku loyang'aniridwa ndi ultrasound, chifukwa amayi atakhala ndi khalidwe lawo ayenera kuyang'aniridwa ndi akatswiri maola angapo. Akhoza kuuzidwa mankhwala kuti athetse mavuto omwe angathe.

Mukamagwiritsa ntchito njira zimenezi, matenda opatsirana amtundu wa 300 mpaka 5,000 angapezeke.