I-Trisomy 16 kunye noMoses Trisomy 16 ekukhulelweni
Ukuba ufumene ukuba umntwana oye waphazamiseka unobomi be-trisomy 16, okanye ukuba ufunda malunga nendima ukuba i-chromosome engafanelekanga ekuphumuleni, kufuneka ufune ntoni?
Ukuba, endaweni yoko, uye wafunda ukuba umntwana wakho unokufumana i-trisomy mosaic 16 emva kwesampuli ye-chorionic villus, i-amniocentesis, okanye i-karyotype eyenziwe emva kokuzalwa, kuyintoni okufuneka uyifumane? Kwenzeka ntoni emva koko kwaye oku kuthetha ukuthini ixesha elide?
I-Chromosomal engavumelekanga kwiNkundla yokuThathatshana
Iingxaki ze-Chromosomal yimbangela eqhelekileyo yokulahleka kwezinto zokuqala ezi-trimester , kunye nokuqikelelwa kwezi ngxaki zijongene ne-50 ukuya kuma-75 ekhulwini yazo zonke iingcingo. I-Trisomi, kwakhona, iyona nto ifunyenwe ngokukhawuleza kwe-chromosome ekuvavanyeni kokuhamba komzimba.
- Ukuqonda i-Genes, i-DNA, ne-Chromosomes
I-Trisomy 16 ekutshatyalalisweni
Kuzo zonke izifo (ezixutywa ngezantsi), i-trisomy 16 ibonakala iyona yinto eqhelekileyo, eyenzeka malunga neepesenti enye yokukhulelwa. kunye nokuphendula malunga neepesenti ezili-10 zamathambo. Kukho iintlobo ezahlukeneyo ze-trisomy 16; ngolunye uhlobo aluhambelani ngokupheleleyo nobomi xa enye ingabangela umntwana osempilweni ngamanye amaxesha. Siza kuthetha ngeentlobo ezahlukeneyo kodwa kuqala, kufuneka uchaze oko kuthetha ukuthini i-trisomy.
Yintoni i-Trisomy kwaye iyenzeka njani? -
Ngokuqhelekileyo, abantu banama-chromosomes angama-46, adibene ndawonye ngama-23 amabini.
Isethi enye yama-chromosomes angama-23 avela kumama kwaye enye isetyenziswe nguyise. Uninzi lwababini (44) lwama-chromosomes lubonwa ngokuthi "i-autosome" kunye nezinye ezimbini "zi-chromosomes zesini." Abesifazana banesikariyotype sama-46 kunye namadoda, 46 XY.
Xa amaseli ahlula ukwenza amaqanda kunye nesidoda kwinkqubo ebizwa ngokuthi i-meiosis, ikopi enye ye-chromosome nganye iya kwelinye lamaqanda amabini okanye i-sperm ezimbili.
Ngamanye amaxesha kukho impazamo, kwaye i-chromosomes ezimbini ziya kwiqanda elinye okanye kwi-sperm kwaye akukho nakwezinye.
Xa imbewu kunye neqanda zidibanisa (ngexesha lokuchumisa) i-zygote iya kugqiba kunye ne-chromosome eyongezelelweyo (i-trisomy) okanye i-chromosome ekhoyo (i-monosomy).
I-Trisomy ingenzeka emva kokuchumisa. Ngaphambi kokuhlukana, iiseli ziphindwe kabini i-chromosomes ukuze zibe ne-92. Xa iseli lihlula, intombi nganye nganye iya kuba nama-chromosomes angama-46. Ukuba kukho iphutha, enye iseli inokuphela ngama-47 ama-chromosomes kunye nomnye onama-45.
Iintlobo zeTrisomy 16
Kukho iintlobo ezintathu ze-trisomy: ezipheleleyo, ezikhethekileyo, kunye ne-mosaic.
I-trisomy epheleleyo 16 - I-trisomy epheleleyo 16 ithetha ukuba zonke iiseli zomzimba womntwana zichaphazelekayo. I-trisomy epheleleyo 16 ayihambelani nobomi kwaye phantse zonke iintsana ezinesimo esiphumelelwanga kwi-trimester yokuqala.
I-trisomy kaMoses 16 - Kwakhona kunokwenzeka ukuba ne-trisomy mosaic 16, echaza ukuba ezinye zeeseli zomzimba ziyachaphazeleka ngelixa ezinye iiseli ziqhelekile. I-trisomy kaMoses 16 ingakhokelela ekubeni i-trisomy izama ukuzilungisa ngexesha lohlulo lweseli ekuqaleni kwenkqubo yokukhula komntwana, ishiya ezinye iiseli zichaphazeleke kodwa zingabanye. Umthetho kaMoses udlalwa njengepesenti.
I-trisomy ekhethekileyo 16 - Kwakhona kunokwenzeka, kwiimeko ezinqabileyo, ukuba nokukhulelwa apho iiseli ezinqabileyo ziphethe i-trisomy epheleleyo 16 okanye i-trisomy ye-mosaic 16 nangona umntwana usuqhelo lwechromosom.
Oku kwaziwa ngokuba yi-trisomy 16.
Ukuqonda iiKaryotypes ngeTrisomy 16
I-karyotype evamile ibhalwe ngo-46 XX okanye 46 XY, nge-trisomy ibe ngu-47 XX okanye i-47 XY.
I-Trisomy 16, ibhalwe njenge-47 XX +16 kwintombazana, okanye 47 i-XY +16 yenkwenkwe (kunye ne -16 ebonisa ukuba i-trisomy iquka i-chromosome ye-16.)
I-trisomy kaMoses yayiza kubhalwa njengepesenti, umzekelo umfana ungabhalwa 47 XY +21/46 XY ngepesenti enikezelwe njengenani leeseli ezi-47 XY +16 kunye nenani eli-46 XY.
Ukuxilongwa kweTrisomy 16
Ukuxilongwa kwe-trisomy 16 kungenziwa emva kokusweleka komzimba, okanye ngokuchaseneyo, kunokufunyanwa ngexesha lokukhulelwa ngenxa yokuhlolwa kokubeleka.
I-trisomy epheleleyo 16 ingafunyanwa njengesisombululo sokuphuphuma komzimba xa abazali beqokelela izicubu kunye nokuvavanywa kwezinto ezingavumelekanga kwichromosomal kwi-stersion .
I-Trisomy 16 okanye i-trisomy ye-mosaic 16 ingafumaneka kwakhona ngexesha lokukhulelwa ngokusebenzisa isampuli ye-chorionic villus ( CVS ) okanye i- amniocentesis .
Ithini i-Trisomy 16 Ukuxilongwa emva kokutshatyalaliswa koMtshato
I-trisomy epheleleyo 16 phantse ihlala ibangela ukukhulelwa kwe-first-trimester. Ukuba uye watshelwa ukuba i-trisomy 16 yayiyimbangela yokuphuphuma kwesisu, kufuneka uyazi ukuba ukukhulelwa komzimba akuyena iphoso lakho kwaye amathuba okukhulelwa komzimba ngokukhulelwa okulandelayo aphantsi. Kuze kube kuma-85 ekhulwini kwabasetyhini abanesiphelo sokukhulelwa kokuqala kwe-trimester baya kuba nokukhulelwa okuqhelekileyo ngexesha elizayo xa bekhulelwa.
I-Trisomy 16 Ukuxilongwa kwenziwe ngexesha le-CVS okanye i-Amniocentesis
Ukuba ngoku ukhulelwe kwaye ufumene iziphumo zeCVS okanye i-amniocentesis ezibonisa iiseli ezichaphazelekayo yi-trisomy 16, kuyaqhelekile ukuba ukwesaba okanye ukudideka. Ufanele ukwazi, nangona kunjalo, ukuba akunakwenzeka ukuba umntwana unesifo esipheleleyo se-trisomy 16 ukuba ukhulelwe kwakho kuqhube phambili kwi-trimester yokuqala-umntwana usenokuba netrisomy 16 okanye i-trisomy ingagcinwa kwi-placenta.
UMoses Trisomy 16 Ngethuba lokukhulelwa
Ukuthabatha umntwana nge-trisomy e-mosaic 16 ibangela ingozi eyongeziweyo yoxinzelelo, kwaye kubalulekile ukubona umgqirha onguchwepheshe ekukhulelweni okuphezulu ekuncedeni ukujonga ukukhulelwa kwakho. Ukukhulelwa kunye ne-trisomy 16 inomlinganiselo ophezulu kuneziganeko ezilandelayo:
- Ukukhawuleza kokukhula kwe-intrauterine
- Ukukhulelwa kubangela ukuba uxinzelelo lwegazi (preeclampsia okanye toxemia)
- Icandelo leenkonzo zeC
- Ukwamkelwa kweyunithi yokunakekelwa ngokunyanisekileyo emva kokunikezelwa
Ama-Anomalies angama-Congenital kwiintsana nge-Mosaic Trisomy 16 okanye kwi-Trisomy ye-Placental 16
Akukho phando lophando malunga neziphumo ze-trisomy 16 okanye i-trisomy 16 ye-placenta (i-trisomy ye-16 ekhethekileyo), kodwa uphando olufumaneka lubonisa ukuba iintsana ezichaphazelekayo azivumi ukuxinezeleka.
Phakathi kweentsana ezizalwe nge-trisomy 16, iimpembelelo zempilo ziyahlukahluka ngokuxhomekeke kwisilinganiselo semifanekiso. Ngamanye amaxesha iintsana zizalwe zingenabungqina bokuba ziphi na izinto ezingaqhelekanga ngelixa abanye banokuba neengxaki zempilo. Phantse ama-60 ekhulwini ala bantwana baya kuba nobungqina bokuba ubuncinane bokungabikho kokuzalwa okungabandakanya:
- Iintsilelo zeentliziyo (isifo senhliziyo esiswini) - I-defrication septal defect ikhoyo malunga neepesenti ezili-17 zale ntsana kunye ne-paral defect septal (ASD) kwi-10%.
- I-Hypospadias - Hypospadias yimeko apho ukuvulwa kwe-urethra yindoda kungekhona ekupheleni kwepenisi kodwa endaweni ethile kwinqanaba.
- Ukukhubazeka kwamehlo afana nentamo emfutshane, ikhanda eliphezulu, kunye / okanye impumlo ephilileyo.
- Ukungaqhelekanga kokuphefumula okunjengobuncinci (i-hypoplastic) imiphunga.
- Ukungaqhelekanga kwe-Musculoskeletal ezifana ne-scoliosis.
- Ukungaphumeleli kwengqondo okanye ukulibaziseka kokuphuhliswa, kodwa oku kubonakala ngathi yinto ehlukile.
Iziphumo zexesha elide zabantwana abane-Mosaic Trisomy 16
Nangona iimeko ezinzima zokukhulelwa kunye nesiganeko sokungabikho kokuzalwa okungaphantsi kwama-60 ekhulwini, i-2017 ibonise ulwazi olukhuthazayo malunga nenkqubela yexesha elide labantwana abane-mosaic trisomy 16. Abantwana abaneminyaka engama-16 ubudala abanama-trisomy, ama-80 ekhulwini bakwazi ukuya kwiiklasi eziqhelekileyo . Izifundo ezijongene nempilo yomzimba, impilo yengqondo kunye nomgangatho wobomi babakhuthaza kakhulu, kubonisa ukuba uninzi lwaba bantwana bavalela phakathi kwama-80 no-90 kwizinga elilinganiselwa kwekhulu lomgangatho wobomi.
Ulawulo lweZithintelo ngeMoses Trisomy 16
Njengoko kuphawuliwe ngasentla, kukho iingxaki ezininzi zokukhulelwa eziqhelekileyo kunye nosana olune-trisomy 16. Ukubandakanya i-perinatologist okanye umgqirha ogxininise ekukhuselweni okuphezulu kubalulekile.
Ukufunda malunga nemeko kunokukunceda ukulungiselela, ngakumbi ukufunda ukuba ininzi yabantwana abazalwa nge-mosaic trisomy 16 iya kuba nempilo emzimbeni kunye nengqondo njengoko ikhula.
Ukubona umqeqeshi wezempilo yengqondo oqhelana ne-chromosomal engafanelekanga kunokuba luncedo kakhulu, kokubili ukuqinisa ubungqina bokuba akukho nto oyenzile eyabangela imeko, kwaye kukunceda ukuba ulungelelanise ukuba nomntwana onokungahambi kakuhle.
Ukufunda malunga neTrisomy 16 kunye ne-Genetic Counseling emva kokutshatyalaliswa
Kungakhathaliseki naziphi na izifundo okanye izibikezelo, kuyinto evamile ukucaphukisa kwaye unemibuzo xa uvavanyo lubonisa ukuba kukho iingxaki kumntwana wakho. Ukuba ufumene ukuba umntwana oye waphazamiseka unesifo se-trisomy 16, ukululekwa ngokwemizimba kunokuba luncedo kakhulu. Kanye njengoko kuthwala abantwana abane-mosaic trisomy 16 yinto engacwangciswanga, ukukhulelwa kwesisu okuhlobene ne-trisomy 16 ebusweni akuyona into ebangela.
Amanye amaTrismi aBantu
Kukho iintlobo ezahlukeneyo zesintu, ezinye ezingahambelani nobomi kunye nabanye. Mhlawumbi eyaziwa kakhulu yi-Down syndrome (trisomy 21). Njengoko i-trisomy 16, ininzi yalezi zifo ziyizengozi ezingahleliwe kwaye akunakwenzeka ukuba zihlale zikhulelwe.
Ngaphantsi kweTrisomy 16, ukungathathi, kunye nokuzalwa
Nge-trisomy epheleleyo 16, ukuphuphuma kwesisu kudla ngexesha le-trimester yokuqala, kwaye imeko ibonakala ingahambelani nobomi. Nangona ukufunda malunga nokuxilongwa kukukhathazeka, kunokuba kuqinisekiswe kubazali abathile ukuba bayazi ukuba akukho nto abayenzile ukudala ingxaki leyo, kwaye ithuba lokuba ne-Trisomy 16 ekukhulelweni kolunye aluqhelekanga.
Ngomculo we-trisomy 16, iindaba zibonakala zikhuthaza ngakumbi kunokuba zicinga ngaphambili. Ngokuqinisekileyo kubonakala ngathi kuninzi ukukhulelwa kwengxaki kunye ne-fetus enesifo se-trisomy 16, kwaye kukho iziganeko eziphezulu zokungabikho komntwana, kodwa inkqubela yomzimba, yengqondo kunye nengqondo yengqondo yabantwana abaqhelekile kakhulu.
Imithombo
- I-Coman, D., Gardner, R., Pertile, M., kunye noP. Kannu. I-Trisomy 16 kaMoses kwi-Chorionic Villus Sampling kunye ne-Amniocentesis enePhysical Physical and Intellectual Outcome. I-diagnosis Diagnosis kunye neyeza . 2010. 28 (2): 117-8.
- Chareonsirisuthigul, T., Worawishawong, S., Parinayok, R., Promosonthi, P. no B. Rerkamnuaychoke. Ukuhlaselwa kwe-Intrauterine Growth Retardation neTrisomy 16 Mosaicism. Iingxelo zeNkundla kwiiGenetics . 2014. 2014: 739513.
- UKliegman, uRobert M., uBonita Stanton, uSt Geme III uJoseph W., uNine Felice. Schor, uRichard E. Behrman, kunye noWaldo E. Nelson. Ncwadana yeeNzululwazi. 20 Edition. Philadelphia, PA: Elsevier, 2015. Print.
- I-Sparks, T., iThao, K., kunye noMn. Norton. I-Mosaic Trisomy 16: Ziziphi iziphumo zoBantwana kunye nexesha elide? . Genetics kwiMithi . 2017 Apr 6. (Epub ngaphambi kokuprinta).
- Spencer, K., Pertile, M., Bonacquisto, L., Mills, E., Turner, S., Donalson, K., noJonsson. Ukuqaphela kokuqala kweTriomyter ye-Trisomy 16 Ukusebenzisa i-Combined Biochemical and Ultrasound Screening. Ukuxilongwa kwangaphambi kokubeletha . 2014. 34 (3): 291-5.
- ILayibrari yeSizwe ka-US yamayeza. I-Reference Reference Home. I-Chromosome 16. Ihlaziywe 0404/17.