Zamkatimu
Kodi trisomy 18, kapena Edwards syndrome ndi chiyani?
Pa nthawi ya ubwamuna, dzira ndi ubwamuna zimaphatikizana kupanga selo limodzi, dzira-selo. Uyu nthawi zambiri amakhala ndi ma chromosome 23 (chithandizo cha cholowa) chochokera kwa mayi, ndi ma chromosome 23 kuchokera kwa abambo. Kenako timapeza ma chromosomes 23, kapena 46 onse. Komabe, zimachitika kuti kusagawika kwa cholowa cha chibadwa kumachitika, komanso kuti trinomial ya ma chromosome imapangidwa m'malo mwa awiri. Kenako timalankhula za trisomy.
Edwards syndrome (yotchulidwa pambuyo pa geneticist yemwe adayipeza mu 1960) imakhudza awiri 18. Munthu yemwe ali ndi trisomy 18 motero amakhala ndi ma chromosome atatu 18 m'malo mwa awiri.
Zochitika za trisomy 18 zimadetsa nkhawa pakati mmodzi mwa obadwa 6 ndi mmodzi mwa 000 obadwa, motsutsana ndi 1 mwa 400 pa avareji ya trisomy 21. Mosiyana ndi Down syndrome (trisomy 21), trisomy 18 imabweretsa imfa mu chiberekero mu 95% ya milandu, osachepera malinga ndi portal matenda osowa Ana amasiye.
Zizindikiro ndi matenda a trisomy 18
Trisomy 18 ndi trisomy yoopsa, chifukwa cha zizindikiro zomwe zimayambitsa. Ana akhanda omwe ali ndi trisomy 18 amakhala ndi kamvekedwe kakang'ono ka minofu (hypotonia, yomwe imapita ku hypertonia), hyporesponsiveness, kuvuta kuyamwa, zala zazitali zomwe zimagwirizanitsa, mphuno yotembenuzidwa, pakamwa kakang'ono. Kuchepetsa kukula kwa intrauterine ndi pambuyo pobereka nthawi zambiri kumawonedwa, komanso microcephaly (kutsika kwa mutu), kulumala kwaluntha ndi zovuta zamagalimoto. Zowonongeka ndizochuluka komanso kawirikawiri: maso, mtima, kugaya chakudya, nsagwada, impso ndi mkodzo… Mwa zina zomwe titha kukhudzana ndi thanzi, titha kutchula milomo yong'ambika, mapazi opindika mu nkhwangwa ya ayezi, makutu otsika, opindika moyipa komanso aang'ono (“zinyama”), spina bifida. (kutsekeka kwa neural chubu) kapena chiuno chopapatiza.
Chifukwa cha kuwonongeka kwakukulu kwa mtima, minyewa, kugaya chakudya kapena aimpso, obadwa kumene omwe ali ndi trisomy 18 nthawi zambiri amamwalira m'chaka chawo choyamba cha moyo. Pankhani ya trisomy 18 ya "mosaic" kapena "translocation" (onani m'munsimu), nthawi ya moyo ndi yaitali, koma sichidutsa kukula.
Chifukwa cha zovuta zonse zathanzi zomwe zimalumikizidwa ndi vuto la chromosomal, kuneneratu kwa trisomy 18 sikuli bwino: makanda ambiri okhudzidwa (90%) amamwalira asanakwanitse chaka chimodzi, chifukwa cha zovuta.
Zindikirani komabekukhala ndi moyo wautali nthawi zina kumakhala kotheka, makamaka ngati trisomy ili yochepa, mwachitsanzo pamene maselo okhala ndi 47 chromosomes (kuphatikizapo 3 chromosomes 18) amakhala pamodzi ndi maselo omwe ali ndi 46 chromosomes, kuphatikizapo 2 chromosomes 18 (mosaic trisomy), kapena pamene chromosome 18 ikugwirizana ndi awiri awiri kuposa 18 (translocation). Koma anthu akamakula amakhala olumala kwambiri, ndipo satha kulankhula kapena kuyenda.
Kodi mungazindikire bwanji trisomy 18?
Trisomy 18 nthawi zambiri amaganiziridwa pa ultrasound, pafupifupi pafupifupi sabata la 17 la amenorrhea (kapena sabata la 15 la mimba), chifukwa cha zolakwika za fetal (mu mtima ndi ubongo makamaka), nuchal translucency yokhuthala kwambiri, kuchepa kwa kukula ... Onani kuti seramu zolembera zomwe zimagwiritsidwa ntchito powunika trisomy 21 nthawi zina zimakhala zachilendo, koma sizili choncho nthawi zonse. Choncho, Ultrasound ndiyothandiza kwambiri pakuzindikiritsa matenda a trisomy 18. Karyotype ya fetal (makonzedwe a ma chromosome onse) ndiye imapangitsa kuti zitheke kutsimikizira kapena ayi Edwards syndrome.
Trisomy 18: chithandizo? Thandizo lanji?
Tsoka ilo, palibe chithandizo mpaka pano kuchiza trisomy 18. Malinga ndi tsambalo Ana amasiye, chithandizo cha opaleshoni cha malformation sichimasintha kwambiri momwe matendawa amakhalira. Kuonjezera apo, zolakwika zina ndizomwe sizingathe kuchitidwa opaleshoni.
Kuwongolera kwa trisomy 18 kotero kumakhala pamwamba pa zonse chithandizo ndi chisamaliro chapadera. Cholinga chake ndikusintha miyoyo ya makanda omwe akhudzidwa momwe ndingathere, mwachitsanzo physiotherapy. Mpweya wochita kupanga komanso chubu chapamimba chikhoza kukhazikitsidwa kuti chikhale chopatsa thanzi komanso mpweya wabwino. Kuwongolera kumachitika ndi gulu lachipatala lamitundu yosiyanasiyana.