I-Trisomy 18 ibonakala ngokutholakala kwe-chromosome eyengeziwe engu-18, ngaphakathi kwamaseli athile omzimba noma kulilinye lalawa maseli. Izinhlobo ezimbili zalesi sifo ziyaziwa futhi ubunzima besifo i-Down's syndrome sincike kuso.

I-Trisomy 18, ebizwa nangokuthi "i-Edwards Syndrome" yisifo esibangelwa ukungajwayelekile kwe-chromosomal. Kuchazwa ngokungajwayelekile ezingxenyeni ezihlukene zomzimba.

Iziguli ezine-Trisomy 18 imvamisa zinokuphazamiseka kokukhula ngaphambi kokuzalwa (ukubambezeleka kokukhula kwe-intrauterine). kanye nesisindo esiphansi ngokungajwayelekile. Ezinye izimpawu zingabuye zihlobene nesifo: isifo senhliziyo, ukushiyeka kwezinye izitho, njll.

I-Trisomy 18 ibuye ifake ezinye izici: ukumila okungafanele kogebhezi lwengane, umhlathi omncane nomlomo omncane, noma izihlakala ezifakwe ngaphakathi kanye neminwe egqagqene.

Lokhu kuhlaselwa okuhlukile kungabalulekile enganeni. Ezimweni eziningi, ingane ene-trisomy 18 ifa ngaphambi kokuzalwa noma ngaphambi kwenyanga yayo yokuqala.

Abantu abasinda ngemuva kwenyanga yokuqala bavame ukuba nokukhubazeka okukhulu kwengqondo.

Ingozi ye-Down's syndrome ihlotshaniswa nokukhulelwa kowesifazane kunoma yimuphi ubudala. Ngaphezu kwalokho, le ngozi iyanda esimweni sokukhulelwa sekwephuzile.

Izinhlobo ezimbili ezithile zesifo zichaziwe:

• la ifomu eligcwele : okukhathaza cishe izingane ezingama-94% ezine-Down's syndrome. Leli fomu libonakala ngokuba khona kwekhophi ephindwe kathathu (esikhundleni samabili) ye-chromosome 18, kumaseli ngamunye omzimba. Iningi lezingane ezinaleli fomu zifa ngaphambi kokukhulelwa.
• la ukuma KaMose, okuthinta cishe izingane ezingama-5% ezine-trisomy 18. Kulo mongo, ikhophi kathathu le-chromosome 18 ibonakala kuphela ngokwengxenye emzimbeni (kumaseli athile kuphela). Leli fomu alinamandla kangako kunefomu eligcwele.

Ubukhulu besifo ngakho-ke buxhomeke ohlotsheni lwe-trisomy 18 kanye nenani lamaseli aqukethe ikhophi le-chromosome 18, kuyo.

Iningi lamacala eTrisomy 18 avela ekutholakaleni kwekhophi kathathu ye-chromosome 18, ngaphakathi kweseli ngalinye lomzimba (esikhundleni samakhophi amabili).

Bangu-5% kuphela abantu abane-Trisomy 18 abanokuningi kakhulu, kumaseli athile kuphela. Lokhu kuncane kweziguli kunciphe kakhulu engcupheni yokufa ngaphambi kokuzalwa, noma ngaphambi kwenyanga yokuqala yengane.

Ngokuvamile, ingalo ende ye-chromosome 18 inganamathisela (idlulisele) kwenye i-chromosome ngesikhathi sokukhiqizwa kwamaseli noma ngesikhathi sokukhula kombungu. Lokhu kuholela ekubeni khona kwekhophi ephindwe kabili ye-chromosome 18, kuhlanganiswe nokuba khona kwe-chromosome eyengeziwe 18, ngakhoke kuma-chromosomes ama-3 18. Iziguli ezinale ndlela ethile ye-trisomy 18 zibonisa izimpawu ezithile.

Ubungozi beTrisomy 18 buphathelene nakho konke ukukhulelwa. Ngaphezu kwalokho, le ngozi iyanda njengoba iminyaka yowesifazane okhulelwe inyuka.

Ezimweni eziningi zeTrisomy 18, ukufa kwengane ngaphambi kokuzalwa, noma phakathi nenyanga yokuqala, kuhlotshaniswa nakho. Uma ingane isinda, i-sequelae ingabonakala: ukubambezeleka kokukhula kwezitho ezithile kanye / noma izitho, ukukhubazeka kwengqondo, njll.

Izimpawu zomtholampilo nezimpawu ezijwayelekile zingafana neTrisomy 18:

• ikhanda elincane kunesilinganiso
• izihlathi eziyize nomlomo omncane
• iminwe emide egqagqene
• izindlebe ezinkulu zibekwe phansi kakhulu
• ukukhubazeka endebeni echachambile

Ezinye izici zalesi sifo zingabonakala:

• ukulimala kwezinso nenhliziyo
• ukwenqaba ukondla, okuholela ekushodeni ekukhuleni kwengane
• ubunzima bokuphefumula
• ubukhona be-hernias esiswini
• ukungajwayelekile ohlelweni lwamathambo futhi ikakhulukazi emgogodleni
• ubunzima bokufunda obubalulekile.

Isici sengcuphe sokuthuthukiswa kweTrisomy 18 yizakhi zofuzo.

Ngempela, ukutholakala kwekhophi kathathu ye-chromosome 18, ngaphakathi kwamaseli athile kuphela noma ngisho nasengqamuzaneni ngayinye yomzimba, kungaholela ekwakhiweni kwalesi sifo.

Akukho ukwelashwa kweTrisomy 18 okwaziwayo njengamanje. Ukuphathwa kwalesi sifo kusebenza ngempumelelo yethimba lezempilo elihlukahlukene.

Ukwelashwa noma kunjalo kungabekwa, futhi lokhu kumongo wokuhlaselwa yinhliziyo, ukutheleleka, noma ubunzima bokudla.

La physiotherapy ingaphathwa futhi nge-Trisomy 18, ikakhulukazi uma kuthinteka amasistimu emisipha namathambo.