Edwards Syndrome ndizofunika kuti mudziwe za kusintha kwasintha

Pa nthawi yomwe ali ndi mimba, amayi amtsogolo amaonetsetsa kuti ali ndi kachilombo koyambitsa matenda a mwana. Chimodzi mwa matenda aakulu kwambiri a gulu lino ndi matenda omwe anafotokozedwa ndi John Edwards mu 1960. Mu mankhwala, amadziwika kuti trisomy.

Edwards Syndrome - ndi chiyani m'mawu osavuta?

Mu selo labwino lachiberekero lachimuna ndi lachikazi mumakhala muyezo kapena haploid ya ma chromosomes mu kuchuluka kwa zidutswa 23. Pambuyo pa mgwirizano iwo amapanga kitiotype yapadera. Iye monga mtundu wa DNA-pasipoti, ali ndi deta yodabwitsa ya mwanayo. Karyotype yachibadwa kapena yamadzimadzi imakhala ndi ma chromosomes 46, 2 mwa mtundu uliwonse, kuchokera kwa mayi ndi bambo.

Ndili ndi matendawa, mu awiri awiriwa muli chinthu china chophatikiza. Izi ndi syndrome ya trisomy kapena Edwards - karyotype, yokhala ndi 47 ma chromosomes mmalo mwa zidutswa 46. Nthawi zina gawo lachitatu la chromosome 18 liripo pang'onopang'ono kapena silikupezeka mumaselo onse. Zikalata zoterezi sizimapezeka (pafupifupi 5%), maonekedwewa samakhudza nthawi ya matenda.

Edwards Syndrome - zomwe zimayambitsa

Geneticists sanaganizirebe chifukwa chake ana ena amayamba kusinthika kwa chromosomal. Zimakhulupirira kuti ndizochitika mwangozi, ndipo palibe njira zothetsera vutoli. Akatswiri ena amagwirizanitsa zinthu zakuthupi ndi syndrome ya Edwards - zomwe zimayambitsa, zomwe zimathandiza kuti pakhale chitukuko cha anomalies:

Edwards Syndrome - Genetics

Malingana ndi zotsatira za kafukufuku waposachedwapa mu chromosome 18 muli magawo 557 a DNA. Amamanga mitundu yoposa 289 ya mapuloteni m'thupi. Pa chiwerengero cha izi ndi 2.5-2.6% ya majeremusi, kotero kuti ma 18 chromosome amakhudzidwa kwambiri ndi kukula kwa mwana - Matenda a Edwards amawononga mafupa a chigaza, mavoti a mtima ndi maginito. Kusintha kwa thupi kumakhudza mbali zina za ubongo ndi plexuses za mitsempha. Kwa wodwala ndi syndrome ya Edwards, karyotype imayimilira, monga ikusonyezedwa mu chiwerengerocho. Amasonyeza momveka bwino kuti maselo onse ali pawiri, kupatula pa 18.

Mavuto a Edwards syndrome

Matendawa ndi osowa, makamaka poyerekeza ndi zosavuta kuzidziwika bwino. Matenda a Edwards Matendawa amapezeka m'thupi limodzi mwa ana 7,000 omwe ali ndi thanzi labwino, makamaka kwa atsikana. Sitikutha kunena kuti zaka za atate kapena zovuta zimakhudza kwambiri mwayi wa matenda a trisomy 18. Matenda a Edwards amapezeka kwa ana oposa 0.7 peresenti ngati makolo ali ndi zaka zoposa 45. Kusintha kwa chromosomal kumapezekanso pakati pa ana omwe ali ndi pakati paunyamata.

Edwards Syndrome - zizindikiro

Matenda omwe ali pamutuwu ali ndi chithunzi chomwe chimapangitsa kuti trisomy idziwe bwino 18. Pali magulu awiri a zizindikiro zotsatizana ndi Edwards syndrome. Mtundu woyamba wa mawonekedwe umaphatikizapo:

Kunja, ndi kosavuta kuzindikira matenda a Edwards - chithunzi cha ana omwe ali ndi trisomy 18 amasonyeza kukhalapo kwa zizindikiro zotsatirazi:

Edwards Syndrome - Kudziwa

Nthendayi yomwe imayimilidwa ndi chidziwitso chodziwitsa mimba. Ana omwe ali ndi matenda a Edwards sadzatha kukhala ndi moyo wathanzi, ndipo thanzi lawo lidzawonongeka mofulumira. Pachifukwa ichi, ndikofunika kudziwa trisomy 18 pa tsiku loyambirira kwambiri. Kuti mudziwe matendawa, maumboni ambirimbiri ophunzitsidwa apangidwa.

Kufufuza kwa Edwards Syndrome

Pali njira zopanda mphamvu komanso zosavuta kuziwerenga. Njira yachiwiri ya mayesero imayesedwa kuti ndi yodalirika komanso yodalirika, imathandiza kuzindikira Edwards syndrome m'mimba mwa msinkhu wa chitukuko. Zosagonjetseka ndizoyezetsa magazi kwa amayi amodzi. Njira zovuta zogwiritsira ntchito zikuphatikizapo:

  1. Chorionic villus biopsy. Phunziroli likuchitidwa kuyambira masabata asanu ndi atatu. Pofufuza, chidutswa cha chigoba cha pulasitala chimang'ambika, chifukwa chimangidwe chake chikugwirizana kwambiri ndi minofu ya fetus.
  2. Amniocentesis . Pakati pa kuyesedwa, timatengera chitsanzo cha amniotic fluid. Njirayi imayambitsa matenda a Edwards kuyambira sabata lachisanu ndi chiwiri yothandizana.
  3. Cordocentesis. Kusanthula kumafuna magazi pang'ono a mwana wosabadwa, choncho njira imeneyi imagwiritsidwa ntchito patsiku lomaliza, kuyambira masabata 20.

Ngozi ya Edwards Syndrome mu Biochemistry

Kuyezetsa mwana asanayambe kubereka kumachitika m'miyezi itatu yoyamba ya mimba. Mayi wam'tsogolo ayenera kupereka magazi pa sabata la 11 mpaka 13 la kugonana kwa kayendedwe kanyama. Malingana ndi zotsatira zowonjezera mlingo wa chorionic gonadotropin ndi mapuloteni a plasma A, chiopsezo cha Edwards syndrome mu mwana wakhanda chiwerengedwa. Ngati uli wokwera, mkaziyo abweretsedwa ku gulu loyenera pa gawo lotsatila la kafufuzidwe (invasive).

Matenda a Edwards - zizindikiro za ultrasound

Matendawa sagwiritsidwa ntchito nthawi zambiri, makamaka pamene amayi omwe ali ndi pakati sanayambe kuyang'ana. Matenda a Edward pa ultrasound angadziwidwe kokha pakapita nthawi, pamene mwanayo ali pafupi kupangidwa kwathunthu. Makhalidwe a trisomy 18:

Edwards Syndrome - mankhwala

Njira yothandizira kusinthika ndi cholinga chochepetsa zizindikiro zake ndikuwongolera moyo wa khanda. Chithandizo Edward's syndrome ndikuonetsetsa kuti kukula kwa mwanayo sikungatheke. Ntchito zachipatala zowathandiza:

Matenda ambiri a ana aang'ono a Edwards amaonjezeranso kugwiritsa ntchito mankhwala odana ndi zotupa, antibacterial, hormonal ndi ena. Ndikofunika kwa mankhwala opatsirana panthaƔi yake a matenda onse okhudzidwa, omwe amachititsa kuti:

Edwards Syndrome - kufotokozera

Mazira ambiri omwe amatha kufotokozera ana awo amamwalira pamtunda chifukwa cha kukanidwa ndi thupi la mwana wosabadwa. Pambuyo pa kubadwa, zowonongeranso zimakhumudwitsa. Ngati Edwards syndrome imapezeka, ndi ana angati amene amakhala, tidzakambiranapo peresenti:

M'milandu yapadera (trisomy yokhala ndi mbali 18 kapena yachithunzi), timagulu timatha kukula. Ngakhale m'mikhalidwe yotereyi, matenda a John Edwards sadzapitirirabe. Ana achikulire omwe ali ndi matendawa amakhala oligophrenic kosatha. Zomwe angaphunzitsidwe: