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Kedu ihe bụ trisomy 18, ma ọ bụ ọrịa Edwards?
N'oge fatịlaịza, ovum na sperm na-ejikọta ọnụ wee mepụta otu mkpụrụ ndụ otu, cell-akwa. Nke a na-enyekarị chromosomes 23 (nkwado nke ihe nketa mkpụrụ ndụ ihe nketa) sitere na nne, yana chromosomes 23 sitere na nna. Anyị na-enweta 23 ụzọ abụọ nke chromosomes, ma ọ bụ 46 na mkpokọta. Otú ọ dị, ọ na-eme na anomaly na nkesa nke mkpụrụ ndụ ihe nketa na-eme, na na trinomial nke chromosomes na-guzobere kama otu ụzọ. Anyị na-ekwu maka trisomy.
Ọrịa Edwards (nke aha ya bụ onye na-ahụ maka mkpụrụ ndụ ihe nketa nke chọpụtara ya na 1960) na-emetụta ụzọ abụọ 18. Ya mere, onye nwere trisomy 18 nwere chromosome atọ 18 kama inwe abụọ.
Mmetụta nke trisomy 18 na-eche n'etiti otu n'ime 6 ọmụmụ na otu n'ime 000 ọmụmụ, megide 1 n'ime 400 na nkezi maka trisomy 21. N'adịghị ka Down syndrome (trisomy 21), trisomy 18 na-ebute ọnwụ na utero na 95% nke ikpe, ọ dịkarịa ala dị ka portal maka ọrịa ndị na-adịghị ahụkebe Orta nwa.
Mgbaàmà na prognosis nke trisomy 18
Trisomy 18 bụ trisomy siri ike, n'ihi mgbaàmà ọ na-ebute. Ụmụ amụrụ ọhụrụ nwere trisomy 18 na-enwe ụda akwara na-adịghị mma (hypotonia, nke na-aga n'ihu na hypertonia), adịghị ike, ike ịṅụ mmanya, mkpịsị aka dị ogologo na-adaba, imi gbagoro elu, obere ọnụ. A na-ahụkarị nkwụghachi azụ intrauterine na postnatal, yana microcephaly (obere okirikiri isi), nkwarụ ọgụgụ isi na nsogbu moto. Ihe nhụsianya ahụ dị ọtụtụ ma na-adịkarị: Anya, obi, digestive usoro, agba, akụrụ na urinary tract… N'ime ndị ọzọ nwere ike na-ahụ ike na-echegbu, anyị nwere ike banyere a gbawara agbawa egbugbere ọnụ, club ụkwụ na ice ax, ntị ka ala, merụsịrị hemmed na angular ("faunas") , spina bifida (adịghị mma imechi tube akwara) ma ọ bụ pelvis dị warara.
N'ihi ajọ ọrịa obi, akwara ozi, digestive ma ọ bụ gbasara akụrụ, ụmụ amụrụ ọhụrụ nwere trisomy 18 na-anwụkarị n'afọ mbụ nke ndụ ha. N'ihe banyere "mosaic" ma ọ bụ "translocation" trisomy 18 (lee n'okpuru ebe a), ogologo ndụ dị ogologo, mana ọ naghị agafe okenye.
N'ihi nsogbu ahụike ndị a niile jikọtara ya na chromosomal abnormality, prognosis maka trisomy 18 adịghị mma: ọnụ ọgụgụ ka ukwuu nke ụmụ ọhụrụ emetụtara (90%) na-anwụ tupu ha eruo otu afọ, n'ihi nsogbu.
Rịba ama nke ahụịlanarị ogologo oge na-ekwe omume mgbe ụfọdụ, ọkachasị mgbe trisomy dị n'ihu, ya bụ mgbe mkpụrụ ndụ nwere 47 chromosomes (gụnyere 3 chromosomes 18) na-ebikọ ọnụ na mkpụrụ ndụ nwere 46 chromosomes, gụnyere 2 chromosomes 18 (mosaic trisomy), ma ọ bụ mgbe chromosome 18 na mgbakwunye na-ejikọta ya na ụzọ abụọ ọzọ karịa 18 (translocation trisomy). Mana ndị mmadụ tozuru etozu na-enwekwa nkwarụ siri ike, ha enweghị ike ikwu okwu ma ọ bụ ije ije.
Kedu ka esi achọpụta trisomy 18?
A na-enyokarị Trisomy 18 na ultrasound, na nkezi n'ihe dị ka izu 17 nke amenorrhea (ma ọ bụ izu 15 nke ime ime), n'ihi mmebi nke nwa ebu n'afọ (na obi na ụbụrụ karịsịa), nuchal translucency oke oke, nkwụsị uto ... Rịba ama na ọbara ọbara. Ihe nrịbama eji eme nyocha maka trisomy 21 na-abụkarị ihe na-adịghị mma, mana nke a abụghị mgbe niile. Ya mere, Ultrasound dị mma maka ịme nchọpụta nke trisomy 18. Karyotype nwa ebu n'afọ (nhazi nke chromosomes niile) na-eme ka o kwe omume ịkwado ọrịa Edwards ma ọ bụ na ọ bụghị.
Trisomy 18: kedu ọgwụgwọ? Kedu nkwado?
N'ụzọ dị mwute, ọ dịghị ọgwụgwọ ruo taa iji gwọọ trisomy 18. Dị ka saịtị ahụ si kwuo Orta nwa, ọgwụgwọ ịwa ahụ nke malformations adịghị emegharị prognosis nke ukwuu. N'ịgbakwụnye, ụfọdụ adịghị mma bụ nke na enweghị ike ịwa ha.
Ya mere njikwa trisomy 18 mejupụtara karịa ihe niile nlekọta nkwado na nkasi obi. Ebumnuche bụ ịkwalite ndụ ụmụ ọhụrụ ọ metụtara dịka o kwere mee, site physiotherapy ka ihe atụ. Enwere ike itinye ikuku ikuku artificial na tube gas maka nri ka mma na ikuku oxygen. A na-arụ ọrụ nlekọta site na otu ụlọ ọrụ ahụike multidisciplinary.