Yala nin bana in bɛ aw den na wa? An ka kuma Edwards Syndrome walima Trisomy 18 kan.

Aw minnu b’a fɛ ka kɛ denba ye, walima minnu b’a fɛ ka mɔgɔ kura dɔ fara aw ka denbaya kan, o bɛ se ka kɛ ko ye min bɛ mɔgɔ kɔnɔnafili dɔɔnin. Nka, fɛn dɔw bɛ yen minnu mɛnni man di an ye tuma dɔw la, nka minnu nafa ka bon kosɛbɛ k’u dɔn. Bi an bɛna kuma o cogoya sugu dɔ kan. O ye Edwards Syndrome ye, a bɛ fɔ fana ko Trisomy 18, o ye bana ye min ka jugu kosɛbɛ jamu fɛ.

Edwards ka bana ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Edwards Syndrome ye bana ye min bɛ sɔrɔ jamu fɛ, min bɛ nɔba bila den ka bonya ni a ka yiriwali la . Den minnu bangera ni nin bana in ye, a ka ca a la olu bɛ bange ni u bangenen girinya dɔgɔyara. U fana bɛ ni bangekɔlɔsi fɛɛrɛ damadɔw ye minnu tɛ kelen ye ani farikolo cogoya kɛrɛnkɛrɛnnenw. A bɛnnen don ka dusukasi ani ka siran ni aw ye nin mɛn. Nka an ka kuma nin kan ka taa a fɛ, o bɛ ɲɛ wa?

Jɔn bɛ se ka Edwards Syndrome (Trisomy 18) sɔrɔ?

Tiɲɛ na, Edwards Syndrome (Trisomy 18) bɛ se ka kɛ mɔgɔ bɛɛ den na . A bɛ kɛ k’a sɔrɔ a ma kɛ cogo si la, o kɔrɔ ye ko a tɛ fɔ ka ɲɛ, ni kolosinsinnan 18 kopi wɛrɛ sɔrɔla den ka selilɛriw kɔnɔ. Nka a jirala ko ni ba kɔrɔbayara, o kɔrɔ ye ko ni ba si tɛmɛna san 35 kan kɔnɔmaya waati, o bana in farati ka bon . Nka aw hakili to a la, ni nin bana in bɛ den kelen na, den nata ka bana sɔrɔli hakɛ bɛ dɔgɔya kosɛbɛ (a ka dɔgɔn ni 1%) ye.

Edwards ka bana (Trisomy 18) ka teli ka kɛ cogo di?

Nin bana in, n’o ye Edwards Syndrome (Trisomy 18) ye, o bɛ sɔrɔ den ɲɛnama 5000 fo 6000 o 6000 la, kelen ɲɔgɔn na . Nka kɔnɔmaya waati, bana in ka ca dɔɔni, a bɛ kɛ kɔnɔmaya 2500 o 2500 la, kelen ɲɔgɔn na. A fɔ man di nka, gɛlɛya minnu bɛ sɔrɔ o sɛgɛsɛgɛli in na , olu ka teli ka kɛ sababu ye ka den tunun kɔnɔbara la (kɔnɔtiɲɛ) walima den salen .

Edwards ka bana (Trisomy 18) sɔrɔla tuma jumɛn?

O bana in min bɛ wele ko Edwards syndrome (Trisomy 18), o sɔrɔla fɔlɔ san 1960 John Hilton Edwards n’a ka kulu fɛ. U y’o Sɔrɔ k’u To den bangenen kura dɔ Sɛgɛsɛgɛli la, den bangenenw ni hakili yiriwali gɛlɛya suguya caman tùn b’a la. U y’a fɔ ko nin bana in sababu bɔra kolosinsinnan 18 kopi sabanan farali la (o de y’a to a bɛ wele ko trisomie 18).

Edwards Syndrome (Trisomy 18) taamasiɲɛw ye jumɛnw ye?

A ka ca a la, den min bɛ ni Edwards syndrome (Trisomy 18) ye, o taamasiɲɛw bɛ ye sani a ka bange ani a bangenen kɔfɛ . A taamasiɲɛ kunbabaw ye bonya dɔgɔyali ye kosɛbɛ, bangekɔlɔsi fɛɛrɛw caman, ani yiriwali kɔtigɛ kojugu walima kalanbaliya .

Taamasiɲɛ minnu bɛ ye kɔnɔmaya waati

Aw ka dɔgɔtɔrɔ bɛna nin fɛn ninnu ɲini ultrasound scan kɛtuma na kɔnɔmaya waati:

• Den kɔnɔbara lamagacogo ka dɔgɔn kosɛbɛ.
• Aw ka denso kɔnɔna na, joli sira kelen dɔrɔn de bɛ a la (a ka ca a la a bɛ kɛ fila ye).
• Denso ka dɔgɔn kosɛbɛ.
• Bangekɔlɔsi fɛɛrɛ suguya caman sɔrɔli.
• Denso kɔnɔji hakɛ tɛmɛnen min bɛ den lamini, o bɛ wele ko ``polyhydramnios''.

Hali ni Edwards Syndrome bɛ den dɔw bange u ɲɛnama, a ka ca a la u bɛna kɔnɔ tiɲɛ walima ka sa kɔnɔmaya kalo saba fɔlɔw la .

Taamasiɲɛ minnu bɛ ye bange kɔfɛ

Den bangenen kɔfɛ, den min bɛ ni Edwards syndrome (Trisomy 18) ye, o bɛ se ka kɛ ni nin farikolo cogoya ninnu ye:

• Farikolo fanga dɔgɔyali (hypotonia) - den bɛ a ye ko a ka nɔgɔ kosɛbɛ.
• Earlobes bɛ sigi ka dɔgɔn ka tɛmɛ a cogo kɔrɔ kan.
• Kɔnɔnafɛnw (i n’a fɔ dusukun ni fogonfogon) bɛ se ka kɛ ka ɲɛ walima u ka baara bɛ se ka Changé.
• Hakilila yiriwali gɛlɛyaw (a ka ca a la u ka jugu kosɛbɛ ).
• Senkɔniw minnu bɛ ɲɔgɔn kan ani/walima senw minnu bɛ sama ɲɔgɔn na (`(clubfeet)`).
• Farikolo, kunkolo, da ani dawolo ka dɔgɔn kosɛbɛ.
• kasikan dɔgɔyalenba ani mankanw jaabi dɔgɔyalenba .

Edwards ka bana taamasiɲɛ jugumanw (Trisomy 18) .

Ikomi denmisɛnni farikolo min bɛ ni Edwards Syndrome (Trisomy 18) ye, o farikolo ma bonya ka ɲɛ, o bana in kɔlɔlɔw ka jugu kosɛbɛ, tuma caman na, u bɛ se ka a ka ɲɛnamaya bila farati la . U dɔw ye ninnu ye:

• Dusukunnabana bangenenw ni sugunɛbana.
• Ninakilidegun (ninakilidegun).
• Gɛlɛyaw ni bangekɔlɔsi fɛɛrɛw (`(Kɔnɔbara basigilen)`) ani kɔnɔbara kogo.
• Ɲɛgɛnɛsiraw (`(Hernies)`).
• Sɔgɔsɔgɔninjɛ (Scoliosis).

Aw ye nin jateminɛ: Dusukunnabana bɛ denmisɛn minnu na, olu 90% ɲɔgɔn bɛ ni Edwards Syndrome (Trisomy 18) ye. O de ye den ninnu ka saya joona sababuba ye, ninakilidegun kɔfɛ.

Mun de bɛ Edwards ka bana (Trisomy 18) bila mɔgɔ la?

N’an y’a fɔ cogo nɔgɔman na, Edwards ka bana (Trisomy 18) bɛ sɔrɔ kolosinsinnan 18 kopi saba sɔrɔli fɛ, sanni u ka kɛ fila ye minnu bɛ kɛ cogo la .

Sisan, a filɛ, an bɛɛ bɛ ni kolosinsinnan 46 ye an farikolo la, minnu tilalen don fila-fila 23 ye. O kolosinsinnanw kɔnɔ, an ka ADN (cikan minnu ka kan ka di an farikolo ma walasa a ka bonya ani ka baara kɛ). An bɛ o kolosinsinnanw kulu kelen sɔrɔ an ba fɛ, tɔ kelen bɛ sɔrɔ an fa fɛ.

Ni seliluw dabɔra, u bɛ daminɛ fɔlɔ i n’a fɔ selilu minnu bɛ den bangekɔlɔsi fɛɛrɛw la (cɛw ka cɛya, musow la kɔnɔw). O farikolokisɛw bɛ tila (taamacogo dɔ la min bɛ wele ko ``meiosis'') ka u yɛrɛ kopi kɛ ka kɛ fila-fila ye. ADN min bɛ sɔrɔ o la, ADN hakɛ tilancɛ bɛ sɔrɔ seli fɔlɔ la, o kɔrɔ ye ko 23 bɛ sɔrɔ kolosinsinnan 46 la. Kɔrɔɲɔgɔnma fila-fila kelen-kelen bɛɛ bɛ ni jate ye.

Ni o kolosinsinnanw ka kan ka fara ɲɔgɔn kan kɔnɔ ni cɛya sɔrɔli waati, tuma dɔw la, kolosinsinnan fila kelen tɛ fara ɲɔgɔn kan ka ɲɛ (i n’a fɔ fɛn min bɛ nɔrɔ), wa o kopi fila bɛɛ bɛ laban kɔnɔ walima cɛya kelen na. O kɔfɛ, kɔnɔta waati, u bɛ fara bangebaga tɔ kelen kan, ka kopi saba kɛ u bɛɛ lajɛlen na . Nin kolosinsinnan suguya in bɛnbaliya bɛ kɛ k’a sɔrɔ a ma kɛ cogo si la, a tɛ se ka fɔ ka ɲɛ, wa a tɛ sɔrɔ bangebagaw ye fɛn min kɛ ka kɔn kɔnɔmaya ɲɛ walima kɔnɔmaya waati la .

Ni kolosinsinnan fila kopi sabanan farala a kan, o bɛ wele ko trisomie. Trisomy kɔrɔ ye fɛn ye i n'a fɔ "farikolo saba". Edwards Syndrome bɛ mɔgɔ min na, o tigi ka kolosinsinnan 18 kopi sabanan bɛ a ka selilɛriw kɔnɔ.

Edwards Syndrome (Trisomy 18) bɛ sɔrɔ cogo di?

A ka ca a la, Edwards Syndrome (Trisomy 18) sɛgɛsɛgɛli bɛ daminɛ kɔnɔmaya waati . Sɛgɛsɛgɛli bɛ dafa sani den ka bange walima a bangenen kɔfɛ. A ka ca a la, aw ka dɔgɔtɔrɔ bɛna ultrasound scan kɛ walasa ka Edwards Syndrome (Trisomy 18) taamasiɲɛw lajɛ ni den lamagacogo, denso kɔnɔji hakɛ ani denso bonya lajɛ ye. Ni nin bana in taamasiɲɛw sɔrɔla jamu fɛ, aw ka dɔgɔtɔrɔ bɛna a fɔ aw ye ko aw ka sɛgɛsɛgɛli wɛrɛw kɛ walasa ka a sɛgɛsɛgɛli dafa.

Sɛgɛsɛgɛli jumɛnw bɛ kɛ ka Edwards Syndrome (Trisomy 18) sɛgɛsɛgɛ?

Kɔnɔmaya waati, ni den ye Edwards Syndrome (Trisomy 18) taamasiɲɛw jira, dɔgɔtɔrɔ bɛ se ka sɛgɛsɛgɛli suguya caman fɔ walasa ka a sɛgɛsɛgɛli dafa, i n’a fɔ:

• Kɔnɔbara basigilen : Kɔnɔmaya dɔgɔkun 15 ni dɔgɔkun 20 cɛ, dɔgɔtɔrɔ bɛna kɔnɔbara basigilen dɔɔni ta ka a sɛgɛsɛgɛ walasa ka den ka kɛnɛya dɔn.
• Chorionic villus sampling (CVS) : Kɔnɔmaya dɔgɔkun 10 ni dɔgɔkun 13 cɛ, aw ka dɔgɔtɔrɔ bɛ farikolokisɛ fitini dɔ ta denso kɔnɔ ka u sɛgɛsɛgɛ walasa ka jamu cogoyaw lajɛ.
• Sɛgɛsɛgɛliw : kɔnɔmaya dɔgɔkun 10 kɔfɛ, aw bɛ se ka aw joli lajɛ walasa ka a dɔn ni kolosinsinnan wɛrɛw ka banaw bɛ aw den na, i n’a fɔ trisomie 18.

Den bangenen kɔfɛ, dɔgɔtɔrɔ bɛna den dusukun sɛgɛsɛgɛ ni ultrasound scan ye, ka dusukun gɛlɛya fɛn o fɛn sɔrɔ o sɛgɛsɛgɛli in sababu fɛ, o dɔn, ka fɛɛrɛw tigɛ walasa k’u furakɛ.

Edwards Syndrome (Trisomy 18) bɛ furakɛ cogo di?

A ka ca a la, nin bana in ka jugu fo den minnu bangera ɲɛnama, olu bɛ dususalo ladonni kɛ.. O kɔrɔ ye ka den dɛmɛ a ka lafiya ani dimi kana kɛ a la. Nka, Edwards Syndrome (Trisomy 18) furakɛli tɛ kelen ye den kelen-kelen bɛɛ la, ka kɛɲɛ ni a sɛgɛsɛgɛli juguya ye . Fura tɛ Edwards Syndrome (Trisomy 18) la .

Edwards ka bana (Trisomy 18) furakɛli bɛ se ka kɛ ninnu ye:

• Dusukunnabana furakɛli : A bɛ se ka fɔ ko Edwards syndrome (Trisomy 18) bɛ den minnu bɛɛ la, dusukunnabana bɛ olu minɛ. Hali ni den bɛɛ tɛ se ka opereli kɛ, dɔw bɛ se ka opereli kɛ.
• Dumuni dɛmɛni : Edwards syndrome (Trisomy 18) bɛ den minnu na, olu bɛ se ka gɛlɛya sɔrɔ dumunikɛcogo la ka a sababu kɛ u ka yiriwali bɛ mɛn. A bɛ se ka kɛ u ka kan ka balo ni dumunikɛminɛn ye walasa ka dɛmɛ don balodɛsɛw la u ka ɲɛnamaya daminɛ na.
• Ɲɛgɛnɛsiraw furakɛli : Edwards syndrome (Trisomy 18) bɛ den minnu na, kɔ gɛlɛya bɛ se ka sɔrɔ olu la, i n’a fɔ sɔgɔsɔgɔninjɛ. Olu bɛ se ka nɔ bila den lamagacogo la. Kolotugudaw furakɛli bɛ se ka kɛ kolotugudaw sɔgɔli ye walima opereli.
• Hakilila ni sigidamɔgɔw dɛmɛni : Ka den sɔrɔ min bɛ ni Edwards Syndrome (Trisomy 18) ye, o bɛ dɛmɛ de wajibiya aw ma, aw ka denbaya ma ani aw den ma. Aw mago bɛna kɛ dɛmɛ na walasa ka den bɔnɛ dusukasi kunbɛn, kɛrɛnkɛrɛnnenya la ni den bɔnɛna aw la, walima ka se ka den ka bana sɛgɛsɛgɛli gɛlɛn kunbɛn.

Ne bɛ se ka dɔ bɔ cogo di ne den ka se ka Edwards Syndrome (Trisomy 18) sɔrɔ?

Ikomi Edwards ka bana (Trisomy 18) ye tiɲɛ na fɛn dɔ ye min bɛ bɔ jamu jiginni na, cogo si tɛ yen ka o bana in bali . Nka ni aw bɛ se ka den sɔrɔcogo sɛgɛsɛgɛ ani ka denso sɛgɛsɛgɛli kɛ (sɛgɛsɛgɛli min bɛ kɛ sani den ka don a kɔnɔ) ni kɔnɔta ye in vitro (IVF), aw bɛ se ka dɔ bɔ kosɛbɛ den sɔrɔli la min bɛ ni Edwards ka bana ye (Trisomy 18). Ni aw b’a fɛ ka kɔnɔ ta, aw bɛ kuma aw ka dɔgɔtɔrɔ fɛ jamu ladilikanw kan walasa ka den sɔrɔli farati dɔn jamu bana in na.

Mun bɛ kɛ ni den dɔ bɛ aw bolo min bɛ ni Edwards Syndrome (Trisomy 18) ye?

Fura tɛ Edwards Syndrome (Trisomy 18) la. kɔnɔmaya fanba bɛ laban ni kɔnɔtiɲɛ walima den salen ye . Kɔnɔmaya minnu bɛ balo fo ka se kɔnɔmaya sabanan ma, Edwards Syndrome (Trisomy 18) bɛ den minnu na, olu 40% ɲɔgɔn tɛ kisi bange ma, wa minnu bɛ balo la, olu tilancɛ kelen ɲɔgɔn bɛ bange ka kɔn u waati ɲɛ.

Den minnu bangera ni Edwards Syndrome (Trisomy 18) ye, olu ka ɲɛnamaya hakɛ ye nin ye:

• 60% ni 75% cɛ bɛ balo dɔgɔkun fɔlɔ la.
• 20% ni 40% cɛ bɛ balo kalo fɔlɔ la.
• 10% ni kɔ t’u wolodon fɔlɔ seli kɛ.

Den minnu bangera ni Edwards Syndrome (Trisomy 18) ye, olu mago bɛ ladonni kɛrɛnkɛrɛnnen na u bangenen kɔfɛ dɔrɔn, ka kɛɲɛ ni u taamasiɲɛ kɛrɛnkɛrɛnnenw ye.. A ka ɲɛnamaya kɛcogo ka dɔgɔn kosɛbɛ, kɛrɛnkɛrɛnnenya la ni den farikolo yɔrɔw falenni ye kɔtigɛ walima ni dusukunnabana bangenen don. Denmisɛn 10% minnu bɛ kisi u wolodon fɔlɔ la, denmisɛn dɔw bɛ ɲɛnamaya wasalen kɛ ni dɛmɛba ye ka bɔ u somɔgɔw ni u ladonbagaw yɔrɔ. Nka tuma caman na, u tɛ taama walima kuma dege abada.

Tuma jumɛn na ne ka kan ka taa dɔgɔtɔrɔso la?

Ni den min bɛ ni Edwards syndrome (Trisomy 18) ye, o bɛ kɔnɔbara la, a bɛ se ka kɛ kɔnɔtiɲɛ walima kɔnɔmaya bɔnɛni ye. Ni aw kɔnɔma don, aw bɛ taa dɔgɔtɔrɔso la joona ni kɔnɔtiɲɛ taamasiɲɛw bɛ aw la :

• Kɔnɔdimi.
• Ni farigan bɛ aw la ani ni farigan bɛ aw la.
• Kɔdimi.
• Ni aw bɛ joli bɔ ka caya ka tɛmɛ a cogo kɔrɔ kan (joli gɛlɛn).
• Kɔnɔbara duguma dimi.

Tuma jumɛn na ne ka kan ka taa kɔrɔtɔko yɔrɔ la?

Ni aw den min wolola ni Edwards Syndrome (Trisomy 18) ye, ni nin taamasiɲɛ ninnu dɔ bɛ a la, aw bɛ taa n’a ye kɛnɛyaso la joona, walima aw bɛ 1990 wele :

• Ni aw bɛ ninakili teliya kojugu walima ni aw bɛ dɔɔni dɔɔni kojugu, walima ni aw tɛ ninakili fewu.
• Ni fari walima dawolo bɛ kɛ bulama walima bulama ye.
• Ni dusukun tantanni teliyalen don kosɛbɛ.
• Ni a dunni ka gɛlɛn.
• Ni farikolo bɛɛ fununna.

Ne ka kan ka ɲininkali jumɛnw kɛ n ka dɔgɔtɔrɔ la?

O cogo la, ɲininkali caman bɛ se ka kɛ i la. Aw bɛ dɔgɔtɔrɔ ɲininka fɛnw na i n’a fɔ:

• "Ne ka farati jumɛnw bɛ den sɔrɔli la ni jamu bana bɛ a la?"
• "Furakɛcogo jumɛnw bɛ se ka kɛ ne den ka bana taamasiɲɛw la?"
• "Ne bɛ se ka mun kɛ walasa ne den ka kɛnɛya kɔnɔmaya waati?"

Edwards Syndrome (Trisomy 18) sɛgɛsɛgɛli bɛ se ka kɛ ko gɛlɛnba ye. Gɛlɛya minnu bɛ na ni nin bana in ye, olu bɛ se ka juguya. Aw ka dɔgɔtɔrɔ bɛna aw ni aw ka denbaya dɛmɛ nin taama in na , a kɛra aw den ka bana sɛgɛsɛgɛli ye wo, a kɛra den bɔnɛni kunbɛnni ye. Ni aw b’a fɛ ka kɔnɔ ta, aw bɛ kuma aw ka dɔgɔtɔrɔ fɛ jamu ladilikanw kan walasa ka aw ka farati dɔn den sɔrɔli la ni jamu bana dɔ bɛ a la.

Fɛn minnu nafa ka bon kosɛbɛ an ka kan ka to an hakili la (Take-Home Message) .

Okey, donc, an ye kuma minnu kan, n hakili la, olu dɔw nafa ka bon i bolo, a to n ka olu dɔw lajɛ:

• Edwards Syndrome, walima Trisomy 18, ye bana juguba ye min bɛ sɔrɔ jamu fɛ .
• O bɛ sɔrɔ kolosinsinnan 18 kopi wɛrɛ fɛ.O ye ko ye min bɛ kɛ ɲɔgɔn fɛ, bangebagaw ka jalaki tɛ.
• O bɛ se ka dɔn sɛgɛsɛgɛliw ni sɛgɛsɛgɛli kɛrɛnkɛrɛnnen wɛrɛw fɛ (`(Amniocentesis)`, `(CVS)`) minnu bɛ kɛ kɔnɔmaya waati.
• Fura tɛ nin bana in na, furakɛli kun ye ka bana taamasiɲɛw kunbɛn ani ka den lafiya.
• Den caman tɛ mɛn , nka denmisɛn dɔw bɛ balo ni u ka denbayaw ka kanuya n’u ka dɛmɛ ye.
• Ni aw kɔnɔma don ani ni...Ni kɔnɔtiɲɛ taamasiɲɛw bɛ aw la, aw bɛ dɔgɔtɔrɔ ka ladilikan ɲini joona.
• Ni a sɔrɔla ko nin bana in bɛ aw la, aw kelen tɛ . Aw ye dɛmɛ sɔrɔ dɔgɔtɔrɔw, denbaya ani ladilikɛlaw fɛ.

N jigi b’a kan ko nin kunnafoni in bɛna aw dɛmɛ. A ka gɛlɛn ka kuma o barokun nafama suguw kan, nka a nafa ka bon ka kɛ mɔgɔ hakili la.

` Edwards Syndrome, Trisomy 18, Bana minnu bɛ sɔrɔ jamu fɛ, Chromosomes, Kɔnɔmaya, Den ka kɛnɛya, Bange nafama