Yu pikin de sɔfa wit dis sik? Lɛ wi tɔk bɔt Edwards Syndrome ɔ Trisomy 18.

Fɔ una we de op fɔ bi mama, ɔ we de ɛkspɛkt nyu mɛmba fɔ jɔyn una famili, dis kin tan lɛk se i nɔ izi fɔ du smɔl. Bɔt sɔm tin dɛn de we wi nɔ kin lɛk fɔ yɛri sɔntɛnde, bɔt dɛn rili impɔtant fɔ no. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya. Dat na di sik we dɛn kɔl Edwards Syndrome, we dɛn kin kɔl bak Trisomy 18, we na wan sik we rili siriɔs we pɔsin kin gɛt frɔm in jɛnɛtiks.

Wetin na di sik we dɛn kɔl Edwards Syndrome?

Fɔ tɔk am simpul wan, Ɛdwado Sindrom na wan sik we de apin to di pikin we kin rili afɛkt di we aw di pikin de gro ɛn di we aw i de gro . di pikin dεm we dεn bכn wit dis kכndyushכn kin bכn wit lכw wet we dεn bכn. Dɛn kin gɛt difrɛn difrɛn prɔblɛm dɛn bak we dɛn bɔn dɛn ɛn sɔm patikyula tin dɛn we dɛn kin du na dɛn bɔdi. Na nɔmal tin fɔ fil bad ɛn fred we yu yɛri dis. Bot mek wi tok abaut dis mo, okay?

Udat kin gɛt di sik we dɛn kɔl Edwards Syndrome (Trisomy 18)?

Infakt, di sik we dɛn kɔl Edwards Syndrome (Trisomy 18) kin apin to ɛnibɔdi in pikin . i kin apin randomly, we min se i nכ kin bi fכ no, we dεn fכnshכn εkstra kכpi fכ di kromozom 18 insay di pikin in sεl dεm. Bɔt dɛn dɔn si se di mɔ di mama ol, dat min se if di mama ol pas 35 ia di tɛm we i gɛt bɛlɛ, na di mɔ i go gɛt dis sik . Bɔt mɛmba se if wan pikin gɛt dis sik, di chans fɔ mek di nɛks pikin gɛt am rili smɔl (lɛs dan 1%).

Aw kɔmɔn tin na di sik we dɛn kɔl Edwards Syndrome (Trisomy 18)?

Dis sik we dɛn kɔl Edwards Syndrome (Trisomy 18), kin apin to lɛk wan pan ɛvri 5,000 to 6,000 pikin dɛn we dɛn bɔn layf layf wan. Bɔt we uman gɛt bɛlɛ, di sik kin apin smɔl, ɛn i kin apin to lɛk wan pan ɛvri 2,500 bɛlɛ. I sɔri fɔ no se, di prɔblɛm dɛn we kin apin we dɛn no dis sik kin mek di pikin lɔs insay di bɛlɛ (we kin kɔmɔt na di bɛlɛ) ɔ we dɛn bɔn pikin we dɔn day .

Ustɛm dɛn bin kam fɔ no se di sik we dɛn kɔl Edwards Syndrome (Trisomy 18)?

Dis sik we dɛn kɔl Edwards syndrome (Trisomy 18), na in Jɔn Hilton Ɛdwado ɛn in tim bin kam fɔ no fɔ di fɔstɛm insay 1960. Dɛn bin kam fɔ no am we dɛn bin de stɔdi bɔt wan pikin we dɛn jɔs bɔn we gɛt difrɛn tin dɛn we dɛn bɔn wit ɛn we gɛt prɔblɛm wit in maynd. Dɛn bin se na bikɔs dɛn ad wan tɔd kɔpi fɔ di kromozom 18 (na dat mek dɛn kɔl am trisomy 18).

Wetin na di sayn dɛm wae de sho se yu gɛt Edwards Syndrome (Trisomy 18)?

Dɛn kin si di sayn dɛm fɔ pikin we gɛt Edwards syndrome (Trisomy 18) bifo ɛn afta dɛn bɔn am . Di men sayn dɛm na we di pikin nɔ de gro bɛtɛ, i kin gɛt bɔku bɔku pikin dɛn we nɔ fayn, ɛn i kin delay fɔ mek i gro fayn ɔ i nɔ kin ebul fɔ lan .

di simptom dεm we dεn kin si we uman bεlε

Yu dɔktɔ go luk fɔ dɛn tin ya we yu de du ɔltra saund skan we yu gɛt bɛlɛ:

• Na smɔl smɔl pikin dɛn de muv.
• yu כmbilikal kכd nכmכ gεt wan at (bכku tεm na tu).
• di plasεnta rili sכm.
• Di prɛzɛns fɔ difrɛn difrɛn prɔblɛm dɛn we dɛn bɔn wit.
• di mכtalman fכ di amniotic fכluid we pasmak we de rawnd di pikin dεn kכl am ``polyhydramnios''.

Pan ɔl we dɛn kin bɔn sɔm pikin dɛn we gɛt Ɛdwado Sindrom layf layf wan, bɔku tɛm dɛn go gɛt bɛlɛ ɔ day insay di fɔs tri mɔnt we dɛn gɛt bɛlɛ .

Simptom dεm we dεn kin si afta dεn bכn am

afta dεn bכn di pikin, di pikin we gεt Edwards syndrome (Trisomy 18) kin gεt dεn fכs tin dεm ya:

• di mכsul tכn we dεn dכn dכn (hypotonia) - di pikin de fil bכku sכft.
• Earlobes set low pas aw i kin bi.
• di insay כgan dεm (lεk di at εn di lכng) kin nכ fכm fayn כ di wok we dεn de du kin chenj.
• Intɛlektual divɛlɔpmɛnt prɔblɛm (bɔku tɛm i kin rili bad ).
• di fut dεm we dεn stכk pan tכp pan dεn wan dεm εn/כ fut dεm we dεn drכ tכgeda (`(clubfeet)`).
• Di bɔdi, di ed, di mɔt, ɛn di jaw rili smɔl.
• Rili low kray ɛn rili low rispɔns to sawnd .

Di bad bad sayn dɛm fɔ di sik we dɛn kɔl Edwards syndrome (Trisomy 18) .

Bikɔs di bɔdi fɔ pikin we gɛt Edwards Syndrome (Trisomy 18) nɔ dɔn rili divɛlɔp, di sayd ɛfɛkt dɛn we dis sik kin gɛt kin rili siriɔs, bɔku tɛm i kin mek i day . Sɔm pan dɛn na:

• Hat sik we dɛn bɔn wit ɛn sik na di kidni.
• Nɔrmal brith (we nɔr de blo fayn).
• di prכblεm dεm εn di bכn difεkt dεm na di dijestiv sistεm (`(Gastrointestinal tract)`) εn di bכdi wכl.
• Ɛnia (`(Hɛnia)`).
• Skɔliosis we de mek pɔsin gɛt sik.

Tink bɔt dis: Na lɛk 90% pan di pikin dɛn we gɛt Edwards Syndrome (Trisomy 18) gɛt at sik. Dis na di men tin we kin mek dɛn pikin ya day bifo tɛm, afta we dɛn nɔ ebul fɔ blo fayn.

Wetin kin mek pɔsin gɛt Edwards Syndrome (Trisomy 18)?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Edwards syndrome (Trisomy 18) kin kam bikɔs tri kɔpi dɛn de na di kromozom 18 instead ɔf di nɔmal tu .

Naw, luk, wi ɔl gɛt 46 kromozom dɛn na wi bɔdi, we dɛn sheb to 23 pe. dis kromozom dεm gεt wi DNA (di instrכkshכn dεm we wi bכdi nid fכ gro εn fכ wok). Wi kin gɛt wan sɛt pan dɛn kromozom ya frɔm wi mama ɛn di ɔda wan frɔm wi papa.

we sεl dεm fכm, dεn fכs stat as fεtilayz sεl dεm na di rεprכdaktiv כgan dεm (sεl dεm na man dεm, eg dεm na uman dεm). dis sεl dεm de divayd (insay wan prכsεs we dεn kכl ``meiosis'') εn kכpi dεn sεf fכ mek tu tu. di sεl we de kכmכt gεt af di DNA we di כrijinal sεl, dat na 23 pan di 46 kromozom dεm. Ɛni wan pan di kromozom dɛn gɛt nɔmba.

we dεn se dεn kromozom pe dεm ya fכ separet we di eg εn sεl dεm de fכm, sכmtεm wan pan di kromozom pe dεm nכ de separet fayn (lεk sכmtin we stika), εn di tu kכpi dεm de εnd כp insay di sem eg כ sεl dεm. Dɔn we dɛn de bɔn pikin, dɛn kin jɔyn wit di wan kɔpi we di ɔda mama ɔ papa gɛt, ɛn dɛn kin mek tri kɔpi dɛn ɔl togɛda . Dis kayn we aw di kromozom nɔ de mach na random, dɛn nɔ kin no wetin go apin, ɛn nɔto ɛnitin we di mama ɛn papa bin du bifo ɔ we dɛn bin gɛt bɛlɛ .

we dεn ad di tכd kכpi fכ wan kromozom pe, dεn kכl am trisomy. Trisomy min sɔntin lɛk "tri bɔdi." Sɔmbɔdi we gɛt Ɛdwado Sindrom gɛt di tɔd kɔpi fɔ di kromozom 18 na dɛn sɛl dɛn.

Aw dɛn kin no bɔt di sik we dɛn kɔl Edwards Syndrome (Trisomy 18)?

di skrinin fכ Edwards Syndrome (Trisomy 18) kin bigin we uman bεlε . dεn kin kכnfכm di diagnosis bifo כ afta dεn bכn di pikin. Yu dɔktɔ go ɔltɛm du ɔltra saund skan fɔ luk fɔ sayn dɛm fɔ Edwards Syndrome (Trisomy 18) bay we i de luk di pikin in muvmɛnt, di amount of amniotic fluid, ɛn di sayz fɔ di plasnta. If dɛn si sayn dɛn fɔ dis jenɛtik kɔndishɔn, yu dɔktɔ go tɛl yu fɔ du mɔ tɛst fɔ no if yu gɛt di sik.

Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt Edwards Syndrome (Trisomy 18)?

We di pikin gɛt bɛlɛ, if di pikin sho sɔm sayn dɛm fɔ di sik we dɛn kɔl Edwards Syndrome (Trisomy 18), di dɔktɔ kin tɛl am fɔ du difrɛn tɛst fɔ no if i gɛt di sik, lɛk:

• Amniocentesis : Bitwin 15 ɛn 20 wiks we yu gɛt bɛlɛ, yu dɔktɔ go tek smɔl smɔl amniotic fluid ɛn tɛst am fɔ no if yu pikin gɛt wɛlbɔdi.
• Chorionic villus sampling (CVS) : bitwin 10 εn 13 wiks we yu bεlε, yu dכkta de tek sכm sכm sכm sεl dεm frכm di plasεnta εn tεst dεm fכ luk fכ di jεnεtik kכndishכn dεm.
• Skrin : Afta 10 wiks we yu bεlε, dεn kin tεst yu bכdi fכ si if yu pikin gεt kכmכn εkstra kromozom kכndyushכn dεm, lεk trisomy 18.

Afta di pikin dɔn bɔn, di dɔktɔ go chɛk di pikin in at wit ɔltra saund skan, no ɛni at prɔblɛm we go dɔn kam bikɔs ɔf dis diagnosis, ɛn tek step fɔ trit am.

Aw dɛn kin trit di sik we dɛn kɔl Edwards Syndrome (Trisomy 18)?

Bɔku tɛm, dis sik kin so bad dat dɛn kin gi pikin dɛn we dɛn bɔn layf layf wan kia fɔ kɔmfɔt.. Dat min se yu fɔ ɛp di pikin fɔ fil fayn ɛn nɔ gɛt pen. Bɔt di tritmɛnt fɔ di sik we dɛn kɔl Edwards Syndrome (Trisomy 18) difrɛn fɔ ɛni pikin, i kin dipen pan aw i siriɔs . Nɔr mɛrɛsin nɔr de fɔ Edwards Syndrome (Trisomy 18) .

Di tritmɛnt fɔ Edwards syndrome (Trisomy 18) kin inklud:

• Tritmɛnt fɔ at sik : Klose to ɔl di pikin dɛm we gɛt Edwards syndrome (Trisomy 18) kin gɛt at sik. Pan ɔl we nɔto ɔl pikin dɛn kin gɛt ɔpreshɔn, sɔm kin du am.
• sכpכt fכ it : Bebi dεm we gεt Edwards syndrome (Trisomy 18) kin gεt difrεnt fכ it nכmal wan biכs fכ divεlכpmεnt delay. Dɛn kin nid fɔ gi dɛn tin fɔ it tru wan fidin tyub fɔ ɛp wit prɔblɛm dɛn we gɛt fɔ du wit it we dɛn dɔn bigin fɔ it.
• Ɔtpidik tritmɛnt : Bebi dɛn we gɛt Edwards syndrome (Trisomy 18) kin gɛt bak prɔblɛm, lɛk skɔliosis. Dɛn tin ya kin afɛkt di we aw di pikin de muv. Ɔtpidik tritmɛnt kin inklud fɔ bres ɔ ɔpreshɔn.
• Saikɔlɔjik ɛn soshal sɔpɔt : Fɔ gɛt pikin we gɛt Edwards Syndrome (Trisomy 18) nid fɔ gɛt sɔpɔt fɔ yu, yu famili, ɛn yu pikin. Yu go nid sɔpɔt fɔ bia wit di pwɛl at we yu gɛt we yu lɔs yu pikin, mɔ if yu lɔs yu pikin, ɔ fɔ bia wit di kɔmpleks diagnosis we yu pikin gɛt.

Aw a go ridyus di risk fɔ mek mi pikin gɛt Edwards Syndrome (Trisomy 18)?

Bikɔs Edwards syndrome (Trisomy 18) na rili di rizin fɔ wan jenɛtik mutation, no we nɔ de fɔ mek dɛn nɔ gɛt dis sik . כltu, if yu kwalifay fכ jεnεtik tεst εn εmbriyo tεst (prεimplant jεnεtik tεst) wit in vitro fεtilayzεshכn (IVF), yu kin ridyus di chans fכ bכn pikin wit Edwards sεndrכm (Trisomy 18) bכku bכku wan. If yu de plan fɔ gɛt bɛlɛ, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks fɔ no bɔt di prɔblɛm we kin apin we yu gɛt pikin we gɛt di sik we yu gɛt.

Wetin kin apin if yu gɛt pikin we gɛt Edwards Syndrome (Trisomy 18)?

Nɔr mɛrɛsin nɔr de fɔ Edwards Syndrome (Trisomy 18). Bɔku pan di bɛlɛ dɛn kin dɔn we uman kin gɛt bɛlɛ ɔ we dɛn kin bɔn pikin we dɔn day . pan bεlε dεm we de liv te to di tכd trimεst, lεk 40% pan di pikin dεm we gεt Edwards Syndrome (Trisomy 18) nכ de liv we dεn bכn, εn lεk wan pat pan tri pan di wan dεm we de liv dεn bכn bifo tεm.

di rεt fכ di pikin dεm we dεn bכn wit Edwards Syndrome (Trisomy 18) na dεn wan ya:

• bitwin 60% ɛn 75% de liv di fɔs wik.
• bitwin 20% εn 40% de liv di fכs mכnt.
• Mɔ pas 10% nɔ de sɛlibret dɛn fɔs batde.

di pikin dεm we dεn bכn wit Edwards Syndrome (Trisomy 18) nid spεshal kia jכs afta dεn bכn dεm, we dεn tayl fכ dεn spεshal simptom dεm.. di chans fכ liv rili sכm, spεshal wan if di pikin dεn delay fכ divεlכp di כgan dεm כ i gεt di at we dεn bכn am. Fɔ di 10% we de liv dɛn fɔs batde, sɔm pikin dɛn de liv fulfil layf wit big sɔpɔt frɔm dɛn famili ɛn di wan dɛn we de kia fɔ dɛn. Bɔt bɔku tɛm dɛn nɔ kin ɛva lan fɔ waka ɔ tɔk.

Ustɛm a fɔ go to di dɔktɔ?

We di pikin we gɛt Edwards syndrome (Trisomy 18) de na di bɛlɛ, i kin izi fɔ mek i nɔ gɛt bɛlɛ ɔ i kin gɛt bɛlɛ. If yu gɛt bɛlɛ, go to dɔktɔ wantɛm wantɛm if yu gɛt sayn dɛn we de sho se yu nɔ gɛt bɛlɛ :

• Bɛlɛ de at.
• If yu fil kol ɛn yu gɛt fiva.
• Bak pen.
• If yu de blɔd bɔku pas aw i fɔ blɔd (we de blɔd bɔku).
• Di pen we de na di bɛlɛ we de dɔŋ.

Ustɛm a fɔ go na di imejensi rum?

If yu pikin we dɛn bɔn wit Edwards Syndrome (Trisomy 18) gɛt ɛni wan pan dɛn sayn ya, kɛr am go na di imejensi rum wantɛm wantɛm, ɔ kɔl 1990 :

• If yu de blo tumɔs ɔ yu de blo tumɔs, ɔ yu nɔ de blo atɔl.
• If di skin ɔ di lip dɛn tɔn blu ɔ pepul.
• If di at bit rili fast.
• If i at fɔ it.
• If di wan ol bɔdi dɔn swel.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We dis kayn tin apin, yu kin gɛt bɔku kwɛstyɔn dɛn. Aks yu dɔktɔ bɔt tin dɛn lɛk:

• "Wetin na mi risk fɔ gɛt pikin wit jenɛtik kɔndishɔn?"
• "Us tritmɛnt dɛn kin gi mi pikin in simptom dɛm?"
• "Wetin a kin du fɔ mek shɔ se mi pikin gɛt wɛlbɔdi we a gɛt bɛlɛ?"

Fɔ no se yu gɛt Edwards Syndrome (Trisomy 18) kin rili tranga. De kɔmplikeshɔn wae kin kam wit dis sik kin tranga pasmak. Yu dɔktɔ go ɛp yu ɛn yu famili fɔ du dis joyn , ilɛksɛf na fɔ dil wit di sik we yu pikin gɛt ɔ fɔ bia wit di lɔs we yu pikin lɔs. If yu de plan fɔ gɛt bɛlɛ, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jenɛtiks fɔ no bɔt yu risk fɔ bɔn pikin we gɛt jɛnɛtik kɔndishɔn.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Okay, so, mek a sɔma sɔm pan di tin dɛn we wi dɔn tɔk bɔt we a tink se go impɔtant to yu:

• Edwards Syndrome, ɔ Trisomy 18, na siriɔs sik we pɔsin kin gɛt frɔm in jɛnɛtiks .
• dis kin kכz fכ wan εkstra kכpi fכ di kromozom 18. Dis na tin we apin, nכto di mama εn papa fכlt.
• dis kin bi tru skan εn כda spεshal tεst dεm (`(Amniocentesis)`, `(CVS)`) we dεn du we uman bεlε.
• Nɔr mɛrɛsin nɔr de fɔ dis sik, di tritmɛnt de fɔ kɔntrol di simptom dɛm ɛn mek di pikin fil fayn.
• Bɔku pikin dɛn nɔ kin liv lɔng , bɔt sɔm pikin dɛn kin liv wit di lɔv ɛn sɔpɔt we dɛn famili kin gi dɛn.
• If yu gɛt bɛlɛ ɛnIf yu de sho sayn dɛn fɔ se yu nɔ gɛt bɛlɛ, go to dɔktɔ wantɛm wantɛm.
• If dɛn dɔn no se yu gɛt dis sik, nɔto yu wan de . Gɛt ɛp frɔm dɔktɔ, famili, ɛn advays savis.

A op se dis infɔmeshɔn go ɛp yu. I at fɔ tɔk bɔt dɛn kayn tɔpik dɛn ya we rili impɔtant, bɔt i fayn fɔ no.

` Edwards Syndrome, Trisomy 18, Jεnεtik Disizin, Kromozom, Bεlε, Bebi hεlth, difεkt dεm we dεn bכn wit