Ingabe ukhathazekile kancane ngezakhi zofuzo zengane yakho? Ake sixoxe nge-Trisomy!

Kungenzeka ukuthi uke wezwa igama elithi "Trisomy" noma kungenzeka ukuthi udokotela wakho ukukhulumile. Kuvamile ukuzizwa wesaba futhi unelukuluku uma uzwa lokhu. Kuyini i-trisomy? Kungani kwenzeka? Kuzomthinta kanjani umntwana? Ake sixoxe ngakho konke ngendlela elula ongayiqonda.

Iyini i-Trisomy? Kalula nje...

Cabanga nje ukuthi umzimba wethu wakhiwe izigidi zamangqamuzana amancane. Ngaphakathi kweseli ngalinye, kunendawo efana nesikhungo sokulawula salelo seli, esilibiza ngokuthi i-nucleus . Ngaphakathi kwalelo nucleus kunezinto ezibizwa ngokuthi 'ama-Chromosomu' . Lezi zifana nezincwadi. Konke ngomzimba wethu, zonke izici ezisenza sihluke kwabanye (njengokuphakama, umbala, umbala wezinwele, umbala wamehlo) kubhalwe kulezi zincwadi ezibizwa ngokuthi ama-chromosome. Lolu lwazi yilokho esikubiza ngokuthi 'i-DNA' .

Ngokuvamile, iseli ngalinye kumuntu ophilile linama-chromosome angu-23. Lokho kungama-chromosome angu-46 esewonke. Ingxenye yalawa, angu-23, ivela kumama wethu, kanti enye ingxenye, engu-23, ivela kubaba wethu.

Manje, nakhu okushiwo yi -trisomy : Ngezinye izikhathi, ngaphezu kweyodwa yalezo zibhangqa ze-chromosome, kunezelwa i-chromosome eyengeziwe. Bese inani eliphelele lama-chromosome liba ngu-47 esikhundleni sika-46. Igama elithi "Tri" lisho okuthathu, kanti elithi "somy" lisho into efana nomzimba. Ngakho-ke, i-trisomy imane inama-chromosome amathathu lapho kufanele kube khona amabili.

Nakuba ingane enale chromosome eyengeziwe ingazalwa isikhathi esigcwele, ngezinye izikhathi ingabangela ukuphuphuma kwesisu ezinyangeni ezintathu zokuqala zokukhulelwa.

Yiziphi izinhlobo eziyinhloko ze-trisomy?

Odokotela baxilonga lesi simo se-trisomy ngokusekelwe ku-pair yama-chromosome lapho i-chromosome eyengeziwe ikhona khona. Ngenxa yokuthi i-pair ngayinye yama-chromosome inendima ethile emzimbeni wethu, isimo sezakhi zofuzo somntwana sizohluka kuye ngokuthi i-chromosome eyengeziwe ifakwe kuphi.

Izimo ezivame kakhulu ze-trisomy yilezi:

• I-Trisomy 21 : Lesi yisimo sonke esisazi ngokuthi i-Down syndrome . Kukhona i-chromosome eyengeziwe kubhangqa lama-chromosome angama-21.
• I-Trisomy 18 : Lokhu kubizwa nangokuthi i-Edward syndrome .
• I-Trisomy 13 : Lokhu kubizwa ngokuthi i-Patau syndrome .

Ngokufanayo, i-23rd yama-chromosomes ezakhiweni zethu zofuzo inquma ubulili bethu. Lawa abizwa ngokuthi 'XX' kowesifazane kanye 'XY' kowesilisa. Lapho amaseli ehlukana, ukukhubazeka kula ma-chromosome obulili nakho kungenzeka, okuholela kuma-trisomie. Izibonelo zalokhu yilezi:

• I-Trisomy X (`I-Trisomy X` noma `XXX`)
• I-Klinefelter syndrome (`i-Klinefelter syndrome` noma `XXY`)
• I-Jacob's syndrome (`Jacob's syndrome` noma `XYY`)

Ubani okungenzeka kakhulu ukuthi athinteke yilesi simo se-trisomy?

Eqinisweni, i-trisomy ingenzeka kunoma yisiphi isigaba sokukhulelwa. Kodwa-ke, kutholakale ukuthi ingozi iphakeme kancane uma abesifazane abangaphezu kweminyaka engu-35 bekhulelwa . Kodwa-ke, ngokumangazayo, iningi lezingane ezizalwa zine-trisomy lizalwa abazali abangaphansi kweminyaka engu-35. Lokhu kungenxa yokuthi, ngokwezibalo, izingane eziningi zizalwa ngabantu abangaphansi kweminyaka engu-35.

Into ebaluleke kakhulu: I-Trisomy akuyona into eyenzeka ngephutha likamama noma likababa. Iwushintsho lwezakhi zofuzo oluvela ngokungahleliwe.

Ivame kangakanani i-trisomy?

Uhlobo oluvame kakhulu lwe-trisomy yi-trisomy 21, noma i-Down syndrome. Isibonelo, e-United States kuphela, cishe izingane ezingu-6,000 zizalwa zine-Down syndrome minyaka yonke. Lokho cishe kuyingane eyodwa kwezingu-700.

Ziyini izimpawu ze-trisomy ngesikhathi sokukhulelwa?

Ngesikhathi sokuhlolwa kwe-ultrasound kokukhulelwa kwakho, udokotela wakho uzobheka izimpawu ze-trisomy. Ezinye zezimpawu zifaka:

• Inani lamanzi azungeze umntwana (uketshezi lwe-amniotic) lincane kakhulu.
• Inkaba yomntwana inomthambo owodwa kuphela esikhundleni senani elivamile lemithambo.
• I-placenta incane kunejwayelekile.
• Ukunyakaza kwengane (ukuzikhukhumeza) kubonakala kuncane.
• Ingane ibukeka incane kuneminyaka yayo yangempela.
• Ezinye izinkinga zomzimba, isibonelo, izinkinga ezithile zenhliziyo noma ulwelwesi oluqhekekile.

Yiziphi izimpawu ngemva kokuzalwa komntwana?

Izimpawu ingane engase ibhekane nazo zingase zihluke kuye ngohlobo lwe-trisomy. Ezinye izimpawu ezivamile zifaka:

• Ukuba mfushane kunokujwayelekile (ubude obufushane).
• Ubuso obuyindilinga nobuso obuyisicaba.
• Ukubukeka okugobile emehlweni.
• Ulwanga oluqhekekile.
• Ukwakheka kabi kwezitho zangaphakathi (njengenhliziyo, amaphaphu, izinso) noma izinkinga ngomsebenzi wazo.
• Ukulibaziseka kokukhula kanye nokukhubazeka kwengqondo.

Kungani le trisomy yenzeka? Incazelo yesayensi kakhulu...

Ama-chromosome emizimbeni yethu enziwa ngokulandelana okuqondile kakhulu. Lolu chungechunge lwamaseli lufana "nohlelo" lokuthi singobani. Lapho amaseli ezitho zokuzala enziwa (isidoda emadodeni, amaqanda kwabesifazane), aqala ngeseli elilodwa elivundisiwe. Leli seli libe selidlula inqubo ebizwa ngokuthi i-meiosis . Yilapho iseli elilodwa lihlukana khona kabili, likhiqiza amaseli amane. Iseli ngalinye elisha linengxenye yenani le-DNA eliseli lokuqala, noma ama-chromosome angu-23.

Lena inqubo yokuhlukaniswa kwamaseli (i-meiosis).Ngezinye izikhathi amaseli angahlukana ngendlela engafanele. Uma lokho kwenzeka, kuvela ikhophi eyengeziwe yeseli bese ijoyina ama-chromosome amabili. Ngokuvamile, kufanele kube nama-chromosome amabili kubhangqa ngalinye. Kodwa lapha, i-chromosome yesithathu yakha futhi ijoyine lawo mabhangqa. Lokho kubizwa ngokuthi i-trisomy.

I-Trisomy yenzeka ngesikhathi sokukhulelwa . Lesi yisenzakalo esingahleliwe, esingabangelwa yinoma yini eyenziwe ngumama ngesikhathi sokukhulelwa. Kodwa-ke, njengoba kushiwo ngaphambili, ingozi iphakeme kancane kulabo abakhulelwa ngemva kweminyaka engu-35.

Itholakala kanjani i-trisomy?

Ukuhlolwa kwezakhi zofuzo ngesikhathi sokukhulelwa kunganikeza izinkomba mayelana nokuba khona kwe-trisomy. Ngemva kokuzalwa komntwana, lesi simo siqinisekiswa ngokuhlolwa ngokomzimba kanye nokuhlolwa kwe-chromosome yezakhi zofuzo kusetshenziswa isampula yegazi lomntwana.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga i-trisomy?

Ngesikhathi sokukhulelwa, udokotela wakho cishe uzo-oda isampula yegazi kumama wakho kanye ne-scan. Njengoba kushiwo ngaphambili, i-scan izobheka izinto ezifana noketshezi oluningi oluzungeze ingane, ukululama kwe-nuchal , kanye nobude bezitho zomntwana. Lokhu kungaba izimpawu zokukhubazeka kwezakhi zofuzo.

Ngemva kwalezi zivivinyo eziyisisekelo, kunezivivinyo eziqondile kakhulu zokuqinisekisa isimo:

• Ukuhlolwa kwe-Chorionic villus (CVS): Phakathi kwamasonto ayi-10 kuya kwayi-13 okukhulelwa, kuthathwa isampula encane yamaseli ku-placenta ukuze kuhlolwe izimo zofuzo kanye nobulili bomntwana.
• I-Amniocentesis: Phakathi kwamasonto ayi-15 kuya kwangama-20 okukhulelwa, kuthathwa isampula encane yoketshezi lwe-amniotic oluzungeze umntwana ukuze kuhlolwe izinkinga zempilo ezingaba khona.
• Ukusampula igazi nge-Percutaneous umbilical (PUBS): Kuthathwa isampula encane yegazi entanyeni yomntwana ukuze kuhlolwe impilo yomntwana.
• Ukuhlolwa kokukhulelwa okungahlaseli (i-NIPT): Ngemva kwamasonto ayi-10 okukhulelwa, kuhlolwa isampula yegazi likamama ukuze kuhlolwe ukuthi ingane inazo yini izinkinga zofuzo.

Ziphathwa kanjani izimo ze-trisomy?

I-Trisomy iyisimo esihlala isikhathi eside. Ngakho-ke, ukwelashwa kwesikhathi eside kuyadingeka ukuze kuncishiswe izimpawu ezihambisana nalesi simo. Ukwelashwa kwezingane ezizalwa zine-trisomy kuhlanganisa:

• Ukuhlinzwa ukuze kulungiswe izinkinga zomzimba.
• Ukunikeza ukwesekwa kwezemfundo .
• Ukwelashwa ngenkulumo, ukuziphatha kanye nokuzivocavoca .
• Imithi yokulawula izimpawu zezinye izimo zezokwelapha ezingase zivele ngokuhamba kwesikhathi.

Ingabe ikhona indlela yokunciphisa ingozi ye-trisomy?

Eqinisweni, izimo zofuzo ezifana ne-trisomy azinakuvinjelwa. Ngenxa yokuthi iphutha le-chromosome livela ngokungahleliwe ngesikhathi sokuhlukaniswa kwamaseli, unganciphisa ingozi yokuba nomntwana onesimo sofuzo ngokwenza okulandelayo:

• Ukuqonda izingozi zokukhulelwa uma uneminyaka engaphezu kwengu-35.
• Ukuhlolwa kwezakhi zofuzo ngaphambi kokukhulelwa.
• Ukugwema ukusebenzisa imikhiqizo kagwayi notshwala.
• Nakekela impilo yakho ngokudla ukudla okunempilo nokuzivocavoca njalo.

Le trisomy izomthinta kanjani umntwana wami?

Ngenxa yokuthi i-chromosome eyengeziwe ishintsha "uhlelo" lomntwana, ingabangela ukukhubazeka kokuzalwa ( njengezici zobuso ezihlukile) kanye nokukhubazeka kwengqondo. Izingane eziningi ezizalwa zine-trisomy 12 zizoba nezinye izinkinga zempilo (njengokutheleleka njalo kwendlebe, isifo senhliziyo, kanye ne-sleep apnea) ngemva kokuba lesi simo sitholakale. Kodwa-ke, ngokwelashwa okufanele, ingane yakho ingaphila impilo ejabulisayo neyanelisayo .

Kodwa-ke, izingane ezizalwa nezimo ezifana ne-Trisomy 18 noma i-Trisomy 13 zinethuba eliphansi lokusinda ngale kwamasonto ambalwa okuqala okuphila (isikhathi sokuzalwa) ngenxa yobunzima besimo (ikakhulukazi ukubambezeleka noma ukungalingani ekukhuleni kwezitho zomzimba). Udokotela wakho uzohlola impilo yengane yakho futhi anikeze ukwelashwa ukuze kwandiswe amathuba okusinda kwezingane ezizalwa nalezi zimo.

Kufanele ngimbone nini udokotela?

Omunye umphumela ongemuhle we-trisomy ingozi yokuphuphuma kwesisu . Lokhu kuvame ukwenzeka phakathi nezinyanga ezintathu zokuqala zokukhulelwa. Uma unezinye zezimpawu zokuphuphuma kwesisu (ezibalwe ngezansi), bona udokotela wakho ngokushesha:

• Ubuhlungu besisu esingezansi, ukuqaqamba kwesisu.
• Ubuhlungu obuphansi emhlane.
• Ubuhlungu besisu.
• Ukopha okuncane noma okukhulu.
• Ukuba nomkhuhlane nokuthola umkhuhlane.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma uneminye imibuzo mayelana nalokhu, ungesabi ukubuza udokotela wakho. Nansi eminye imibuzo ongayibuza:

• Ngingayinciphisa kanjani ingozi yokuba nengane enesifo sofuzo njenge-trisomy?
• Yiziphi izivivinyo zokukhulelwa ozincomayo ukuqinisekisa ukuthi ingane yami inesimo sofuzo?
• Ngingakwazi yini ukukhulelwa okuphumelelayo ngemva kokuxilongwa ukuthi ngine-trisomy?

Uyini umehluko phakathi kwe-Trisomy ne-Monosomy?

Zombili lezi yizimo zofuzo.

• I-Trisomy ukuba khona kwekhophi eyengeziwe ye-chromosome.
• I-monosomy ukungabikho kwekhophi eyodwa ye-chromosome (okungukuthi, ukulahleka kwe-chromosome eyodwa).

Zombili lezi zimo zofuzo zenzeka ngenxa yokuguquka kwezakhi zofuzo okwenzeka ngesikhathi sokuhlukaniswa kweseli. Lokhu okungajwayelekile akukwazi ukuvinjelwa ukuthi kwenzeke ngesikhathi sokuhlukaniswa kweseli.

Yini okufanele uyikhumbule kulokho esixoxe ngakho (Umyalezo Wokuya Ekhaya)

Njengoba kungekho ndlela yokuvimbela ukukhubazeka kwezakhi zofuzo njenge-trisomy, uma uhlela ukukhulelwa, khuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ukuze uhlole ingozi yakho yokuba nengane enesifo sezakhi zofuzo.

Uma kutholakala ukuthi unesifo se-trisomy ngesikhathi ukhulelwe, ungesabi. Kunokusekelwa okuningi kanye nezinsiza ezitholakalayo zokusiza wena nomntanakho ukuba niphile impilo enempilo neyanelisayo. Ukwelulekwa ngofuzo kungakusiza ukuthi uqonde isimo somntwana wakho futhi unikeze ukunakekelwa nokusekelwa akudingayo njengoba ekhula. Khumbula, awuwedwa.

I- Trisomy, ama-chromosome, izakhi zofuzo, i-Down syndrome, ukukhulelwa, ukuhlolwa kwezakhi zofuzo, i-Patau syndrome, i-Edward syndrome