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:
- kugwiritsa ntchito mankhwala osokoneza bongo nthawi yaitali, mowa, fodya;
- umoyo;
- zaka za amayi kapena abambo oposa 45;
- matenda a ziwalo;
- kugwiritsa ntchito mankhwala ambiri omwe amakhudza chitetezo cha mthupi, endocrine ndi machitidwe opatsirana;
- kuwonetseredwa kwa ma radiation omwe amatulutsa mpweya wabwino.
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:
- umbilical, hernia wa inguinal;
- zofooka za mtima zakufa ;
- kusowa kwa kuyamwa ndi kumeza reflex;
- diverticulum wa Meckel ;
- reflux yamagazi;
- atresia wa anus kapena esophagus;
- kuwongolera kwa clitoris;
- kusinthika kwa corpus callosum, cerebellum;
- cryptorchidism ;
- malo osayenera a matumbo;
- hypospadias;
- kawiri kawiri ka ureters;
- atrophy kapena kutsegula ubongo convolutions;
- impso zooneka ngati mahatchi;
- mazira osadziwika;
- kupotoka msana;
- kupweteka kwa thupi;
- kulemera kwa thupi (pafupi 2 kg pa kubadwa).
Kunja, ndi kosavuta kuzindikira matenda a Edwards - chithunzi cha ana omwe ali ndi trisomy 18 amasonyeza kukhalapo kwa zizindikiro zotsatirazi:
- mutu wamphongo wosalongosoka;
- mawonekedwe a nkhope osokonezeka;
- glotti wathanzi ndi wamfupi;
- zofooka, zongomva (zowonongeka);
- kusakhala lobes, nthawizina - tragus komanso ngakhale chingwe;
- chifuwa chachifupi ndi chachikulu;
- underdeveloped m'munsi nsagwada;
- kamwa kakang'ono, kawirikawiri kamakhala ndi katatu kakang'ono kotsegula chifukwa cha mitsempha yapamwamba yochepa;
- Phiri lokulitsa la mphuno;
- "Kudumpha";
- Zing'onoting'ono pakati pa zala kapena kusakanikirana (miyendo ngati yamoto);
- phula lapamwamba, nthawizina ndi chingwe;
- Khosi lalifupi lokhala ndi khola lapamwamba;
- mizere yopingasa ndi scallops pazanja;
- hemangiomas ndi mapilisi pa khungu;
- ptosis ya maso;
- mphukira;
- kutulutsa mpweya wamphongo ndi wotsika.
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:
- 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.
- Amniocentesis . Pakati pa kuyesedwa, timatengera chitsanzo cha amniotic fluid. Njirayi imayambitsa matenda a Edwards kuyambira sabata lachisanu ndi chiwiri yothandizana.
- 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:
- malingaliro a intrauterine a mitsempha ya mtima ndi maonekedwe;
- zolakwika za minofu;
- Matenda a mafupa a chigaza ndi mapepala ofewa a mutu.
- Zizindikiro zosadziwika za matenda pa ultrasound:
- bongo;
- kuchepetsa kukula kwa fetus;
- mitsempha imodzi mumtambo wa umbilical (payenera kukhala awiri);
- nthata m'mimba;
- kusapezeka kwa mafupa a mphuno.
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:
- kubwezeretsani chakudya ndi atresia wa anus kapena matumbo;
- Kukonzekera kudyetsa kupyolera mu kafukufukuyo motsutsana ndi kusakhala kwa kusamwa ndi kumeza reflexes;
- kukhazikitsa kayendedwe kake ka mtima;
- kuonetsetsa kuti mkodzo umatuluka.
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:
- Chotupa cha Wilms ;
- conjunctivitis;
- chibayo;
- otitis;
- mpweya woopsa;
- sinusitis;
- matenda opatsirana a umuna;
- kutsogolo;
- kuthamanga kwa magazi ndi ena.
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:
- 60% - osapitirira miyezi itatu;
- 7-10% - 1 chaka;
- pafupifupi 1% - mpaka zaka 10.
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:
- kwezani mutu wanu;
- kumwetulira;
- palokha;
- kuzindikira malo ochepa a anthu.