Trisomy 13

Zolakwika za Gene zimakhudza kwambiri moyo wa mwanayo, choncho nkhaniyi imakhudzidwa kwambiri ndi madokotala komanso makolo amtsogolo. Chimodzi mwa zizindikiro zoterezi ndi matenda a Patau, omwe amachititsidwa ndi trisomy pa chromosome 13. Za izo ndipo ife tidzakambirana mu nkhani ino.

Kodi Trisomy 13 ndi chiyani?

Matenda a Patau ndi matenda ovuta kwambiri kuposa matenda a Down's syndrome ndi Edwards syndrome . Zimapezeka pafupifupi 1 nthawi ya 6000 - 14000 mimba. Koma, pambuyo pa zonse, ndi chimodzi mwa zitatu zomwe zimafala kaamba ka jini. Matendawa amapangidwa m'njira zingapo:

• chifukwa cha kupanga kromosome yowonjezera muwiri - trisomy yosavuta;
• chifukwa chosinthika, chifukwa cha chilengedwe chosayenera kapena cholowetsa cholowa - Robertson's translocation.

Komanso, imatha (mumaselo onse), mtundu wa mosai (mwa zina) ndi padera (kupezeka kwa mbali zina za chromosomes).

Kodi mungadziwe bwanji trisomy 13?

Kuti azindikire kuchuluka kwa ma chromosomes m'mimba, mwanayo amafunika kuphunzira kwambiri- amniocentesis , pomwe amniotic amadzimadzi amatengedwa kuti aphunzire. Njirayi ikhoza kuyambitsa kuperewera kwadzidzidzi. Choncho, kuti mudziwe kuti pangakhale chiopsezo cha kukhalapo kwa trisomy 13 mu mwana, chiyeso choyang'ana bwino chikuperekedwa. Zimaphatikizapo kupanga ultrasound ndi sampuli ya magazi kuchokera mu mitsempha, kuti mudziwe momwe zimayambira.

Kudziwa za ngozi za trisomy 13

Pambuyo popereka magazi pamasabata 12-13 ndi ultrasound, mayi wamtsogolo amapeza zotsatira, pomwe zoopsa komanso zaumwini zidzafotokozedwa bwino. Ngati nambala yachiwiri ya trisomy yoyamba 13 (yomwe ndi yachizolowezi) imakhala yosakwana yachiwiri, ndiye kuti chiwopsezo chili chochepa (mwachitsanzo: m'munsimu ndi 1: 5000, ndipo mmodzi ndi 1: 7891). Ngati mosiyana ndi zimenezo, ndiye kuti kuyankhulana ndi geneticist kumafunika.

Zizindikiro za trisomy 13 ana

Izi zimayambitsa kuphwanya kwakukulu mu kukula kwa mwana, zomwe zimawoneka pa ultrasound:

• Kapangidwe kake ka nkhope: maso ali pafupi kwambiri, mphuno yothamanga, chingwe kumsana (zonse mkamwa ndi mlengalenga), kupotoza kwa makutu ndi mphuno;
• Kukhalapo kwa zala zazing'ono ndi zina zolakwika pamapazi;
• zofooka za ziwalo zowopsa: mtima, impso, zikondamoyo, ndi zina.

Nthawi zambiri, kutenga mimba koteroko kumaphatikizidwa ndi polyhydramnios ndi kuchepa kwa mwana wosabadwayo. Ana omwe ali ndi matendawa amamwalira kwambiri masabata oyambirira atabadwa.