Yu de wɔri smɔl bɔt yu pikin in jin? Mek wi tok abaut Trisomy!

Yu kin dɔn yɛri di wɔd "Trisomy" ɔ yu dɔktɔ kin dɔn tɔk bɔt am. Na nɔmal tin fɔ fil smɔl fɔ fred ɛn want fɔ no mɔ we yu yɛri dis. Wetin na trisɔmi? Wetin mek i kin apin? Aw i go afɛkt di pikin? Lɛ wi tɔk bɔt ɔl dis na simpul we we yu go ɔndastand.

Wetin na Trisɔmi? In simpul wɔd dɛn...

Imajin se wi bɔdi gɛt bɔku bɔku smɔl smɔl sɛl dɛn. Insay ɛni sɛl, wan ples de lɛk di kɔntrol sɛnta fɔ da sɛl de, we wi kɔl nyukliɔs . insay da nyuklios de na tin dεm we dεn kכl `Kromozom` . Dɛn tin ya tan lɛk buk dɛn. כltin bכt wi bכdi, εvri kכntribyushכn we de mek wi difrεnt frכm כda pipul dεm (lεk ayt, kכla, ia kכla, yay kכla) dεn rayt am na dεn buk dεm we dεn kכl kromozom. Dis infɔmeshɔn na wetin wi kɔl `DNA` .

Nɔmal wan, ɛvri sɛl na pɔsin we gɛt wɛlbɔdi gɛt 23 pe pan dɛn kromozom ya. Dat na wan totɛl fɔ 46 kromozom dɛn. Af pan dɛn, we ol 23 ia, kɔmɔt frɔm wi mama, ɛn di ɔda af we ol 23 ia, kɔmɔt frɔm wi papa.

Naw, na dis trisomi min: Sɔntɛnde, apat frɔm wan pan dɛn kromozom pe dɛn de, dɛn kin ad ɛkstra kromozom. afta dat di tכtal nכmba fכ di kromozom dεm de bi 47 insted fכ 46. "Tri" min tri, εn "somy" min sכmtin lεk bכdi. So, trisomy na jɔs fɔ gɛt tri kromozom usay tu fɔ de.

Pan ɔl we pikin we gɛt dis ɛkstra kromozom kin bɔn ful-tɛm, sɔntɛnde i kin mek i nɔ gɛt bɛlɛ insay di fɔs tri mɔnt we i gɛt bɛlɛ.

Wetin na di men kayn trisomy?

di dכkta dεm kin no dis trisomy kכndyushכn bay us kromozom pe di εkstra kromozom de insay.Biכs εvri kromozom pe gεt spεshal rol na wi bכdi, di jεnεtik kכndyushכn fכ di pikin go difrεn dipכnt pan usay dεn ad di ekstra kromozom.

di trisomy kכndyushכn dεm we kכmכn pas כl na:

• Trisomy 21 : Dis na di sik we wi ɔl no as Down syndrome . εkstra kromozom de insay di 21st kromozom pe.
• Trisomy 18 : Dɛn kin kɔl dis bak Ɛdwado sindrom .
• Trisomy 13 : Dɛn kɔl dis Patau sindrom .

Semweso, di 23 pe kromozom dεm we de insay wi jεnεtik mek-ap de sho wi sεks. Dɛn kɔl dɛn tin ya `XX` fɔ uman ɛn `XY` fɔ man. we di sεl dεm divayd, abnכmal tin dεm na dεn sεks kromozom dεm kin apin bak, we kin mek dεn gεt trisomy. Sɔm ɛgzampul dɛn bɔt dɛn tin ya na:

• Trisɔmi X (`Trisɔmi X` ɔ `XXX`) .
• Klaynfelta sindrom (`Klinefelter sindrom` ɔ `XXY`) .
• Di sik we Jekɔb gɛt (`Jɛkb in sik` ɔ `XYY`) .

Udat kin gɛt dis sik we dɛn kɔl trisomy?

Infakt, trisomy kin apin ɛni stej we uman gɛt bɛlɛ. Bɔt dɛn dɔn si se di prɔblɛm kin bɔku smɔl we uman dɛn we dɔn pas 35 ia gɛt bɛlɛ . Bɔt i sɔprayz fɔ no se bɔku pikin dɛn we dɛn bɔn wit trisɔmi, na dɛn mama ɛn papa dɛn we nɔ rich 35 ia yet kin bɔn.

Di tin we impɔtant pas ɔl: Trisɔmi nɔto sɔntin we kin apin tru di mama ɔ di papa in fɔlt. Na chenj we de apin na di jɛnɛtiks we kin apin wantɛm wantɛm.

Aw kɔmɔn tin fɔ trisomy?

Di kayn trisomy wae kin pasmak na trisomy 21, ɔr Down syndrome. Fɔ ɛgzampul, na Amɛrika nɔmɔ, dɛn kin bɔn lɛk 6,000 pikin dɛn we gɛt Daun sindrom ɛvri ia. Dat na lɛk wan pan ɛvri 700 bebi dɛn.

Wetin na di sayn dɛm fɔ trisomy we uman gɛt bɛlɛ?

We yu de du yu bɛlɛ ɔltrasɔund skan , yu dɔktɔ go luk fɔ sayn dɛn fɔ trisomy. Sɔm pan di sayn dɛn na:

• di wata we de rawnd di pikin (amniotic fluid) rili sכm.
• di pikin in כmbilikal kכd gεt wan at nכmכ insted fכ di nכmba fכ di at dεm we i kin yuz.
• di plasεnta sכm pas di nכmal.
• i tan lεk se di pikin in muvmεnt dεm (squirming) nכ de sכm.
• Di pikin luk smɔl pas di ej we i rili ol.
• Sɔm tin wae nɔr kin fayn na yu bɔdi, fɔ ɛgzampul, sɔm hat prɔblɛm ɔr yu palata kin skata.

Wetin na di sayn dεm afta dεn bכn di pikin?

di sayn dεm we di pikin kin gεt kin difrεn dipכnt pan di kayn trisomy. Sɔm sayn wae kin kam pan pɔrsin wae gɛt dis sik na:

• Fɔ shɔt pas aw i fɔ bi (shɔt ayt).
• Wan rawnd fes ɛn wan flat fes.
• Wan slanted luk pan di yay.
• Klɛft palata.
• di כgan dεm we de insay di bכdi (lεk di at, di lכng dεm, di kidni dεm) כ prכblεm wit di wok we dεn de du.
• Divɛlɔpmɛnt dilɛys ɛn intɛlektual disabiliti.

Wetin mek dis trisomy kin apin? Wan rili sayɛns ɛksplen...

di kromozom dεm na wi bכdi dεn mek dεm insay wan כda we rili spεshal. dis sikεns fכ sεl dεm lεk di "blueprint" fכ udat wi bi. we dεn mek di sεl dεm na di rεprכdaktiv כgan dεm (sεl dεm na man dεm, eg dεm na uman dεm), dεn de stat wit wan sεl we dεn fεtilayz. afta dat dis sεl de du wan prכsεs we dεn k כl meiosis . Dis na di say we wan sɛl de sheb tu tɛm, ɛn mek 4 sɛl dɛn. Ɛni nyu sɛl gɛt af pan di DNA we de na di fɔs sɛl, ɔ 23 kromozom dɛn.

dis na di prכsεs we di sεl dεm de sheb (meiosis)., Sɔntɛnde, di sɛl dɛn kin sheb di rayt we. We dat apin, wan ɛkstra kɔpi fɔ wan sɛl kin kam ɛn jɔyn wan tu kromozom dɛn. nכmal wan, tu kromozom dεm fכ de insay εvri pe. Bɔt na ya, wan tɔd kromozom de fɔm ɛn jɔyn da pe de. Dɛn kɔl dat trisomy.

Trisomy kin apin di tεm we di fεtilayzכn de . Dis na random event, nɔto bikɔs ɔf ɛnitin we di mama du we i gɛt bɛlɛ. Bɔt lɛk aw wi bin dɔn tɔk, di prɔblɛm kin bɔku smɔl fɔ di wan dɛn we gɛt bɛlɛ afta dɛn dɔn ol 35 ia.

Aw dɛn kin no se pɔsin gɛt trisɔmi?

di jεnεtik tεst we uman bεlε kin gi kכlכ fכ di prεsεns fכ trisomy. afta dεn bכn di pikin, dεn kin kכnfכm di kכndyushכn bay we dεn de egzamin di bכdi εn כda jεnεtik kromozom tεst we dεn yuz blכd sεmpl frכm di pikin.

Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt trisomy?

We yu gɛt bɛlɛ, i go mɔs bi se yu dɔktɔ go ɔda fɔ tek blɔd frɔm yu mama ɛn fɔ mek dɛn skan yu. As wi bin dɔn tɔk, di skan go luk fɔ tin dɛn lɛk wata we pasmak rawnd di pikin, wan nuchal lucency , ɛn di lɔng we di pikin in an ɛn fut dɛn lɔng. Dɛn tin ya kin bi sayn dɛn fɔ se pɔsin in jɛnɛtiks nɔ de wok fayn.

Afta dɛn bɛsik tɛst ya, mɔ spɛshal tɛst dɛn de fɔ kɔnfɔm di kɔndishɔn:

• di chorionic villus sampling (CVS): bitwin 10 εn 13 wiks we di bεlε de, dεn de tek sכm sכm sεl dεm frכm di plasεnta fכ tεst fכ di jεnεtik kכndishכn dεm εn di pikin in sεks.
• Amniocentesis: bitwin 15 εn 20 wiks we di bεlε de, dεn de tek sכm sכm sכm sכm sכm sכm sכm sכm sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin fכ chεk fכ poshubul hεlth prכblεm dεm.
• Pεrkyutaneכs כmbilikal blכd sεmpl (PUBS): dεn kin tek sכm sכm blכd frכm di pikin in כmbilikal kכd fכ chεk di pikin in hεlth.
• Non-invasive prenatal testing (NIPT): Afta 10 wiks we di bεlε de, dεn de tεst di blכd sεmpl frכm di mama fכ no if di pikin gεt εni jεnεtik abnכmaliti.

Aw dɛn kin trit di sik dɛn we gɛt trisomy?

Trisomy na wan sik we pɔsin kin gɛt fɔ ɔl in layf. So, dɛn nid fɔ tek tritmɛnt fɔ lɔng tɛm fɔ mek dɛn nɔ gɛt di sik dɛn we gɛt fɔ du wit dis sik. Di tritmɛnt fɔ pikin dɛn we dɛn bɔn wit trisomy na:

• Ɔpreshɔn fɔ kɔrɛkt di tin dɛn we nɔ fayn na in bɔdi.
• Fɔ gi sɔpɔt fɔ ɛdyukeshɔn .
• Tɔk, bihayvya ɛn fyzikal tritmɛnt .
• Mɛrɛsin fɔ kɔntrol di sayn dɛm fɔ ɔda mɛrɛsin sik dɛm wae kin kam as tɛm de go.

Wan we de fɔ ridyus di risk fɔ gɛt trisomy?

Infakt, dɛn nɔ kin ebul fɔ stɔp di tin dɛn we kin apin to pɔsin we gɛt jɛnɛtiks lɛk trisomy. Bikɔs di kromozom difrɛns kin apin random wan we di sɛl dɛn de sheb, yu kin ridyus yu risk fɔ bɔn pikin we gɛt jɛnɛtik kɔndishɔn bay we yu du dɛn tin ya:

• Fɔ ɔndastand di prɔblɛm dɛn we kin apin we uman gɛt bɛlɛ if yu dɔn pas 35 ia.
• di jεnεtik skrεnin bifo uman bεlε.
• Fɔ avɔyd fɔ yuz tabak ɛn rɔm.
• Tek kia ɔf yu wɛlbɔdi bay we yu de it tin dɛn we balans ɛn du ɛksɛsayz ɔltɛm.

Aw dis trisomy go afɛkt mi pikin?

biכs di εkstra kromozom de chenj di pikin in "blueprint," i kin mek di pikin gεt difεkshכn ( lεk difrεn fכs fכm dεm na in fes) εn intellektual disabiliti. Bɔrku pikin dɛm wae dɛn bɔn wit trisomy 12 go gɛt ɔda wɛl bɔdi prɔblɛm dɛm (lɛk fɔ gɛt infɛkshɔn na dɛn yes ɔltɛm, at sik, ɛn slip apnɛa) afta dɛn dɔn no se dɛn gɛt dis sik. Bɔt if yu trit yu pikin di rayt we, i go ebul fɔ liv gladi ɛn satisfay layf .

כltu, di pikin dεm we dεn bכn wit kכndyushכn lεk Trisomy 18 כ Trisomy 13 gεt lכw chans fכ liv pas di fכs wik dεm we dεn de liv (di nyu bכbi tεm) bikoz di kכndyushכn siriכs (especially dilay כ abnכmaliti in כgan divεlכpmεnt). Yu dɔktɔ go asɛs yu pikin in wɛlbɔdi ɛn gi yu tritmɛnt fɔ mek di chans fɔ liv fɔ di pikin dɛn we dɛn bɔn wit dɛn sik ya.

Ustɛm a fɔ go to dɔktɔ?

Wan sayd ɛfɛkt we trisomy kin gɛt na di risk fɔ mek uman nɔ gɛt bɛlɛ . dis kin apin insay di fכs tri mכnt dεm we di bεlε de. If yu gɛt ɛni wan pan di sayn dɛn we de sho se yu gɛt bɛlɛ (we dɛn rayt dɔŋ ya), go to yu dɔktɔ wantɛm wantɛm:

• Lɔwa bɛlɛ pen, kramp.
• Di pen we de na di lɔwa bak.
• Pɔsin we de fil pen na di bɛlɛ.
• Smɔl ɔ ebi ebi blɔd de kɔmɔt.
• Fɔ gɛt kol ɛn gɛt fiva.

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ fred fɔ aks yu dɔktɔ. Na sɔm kwɛstyɔn dɛn we yu kin aks:

• Aw a go ridyus di risk fɔ gɛt pikin we gɛt wan sik we dɛn kɔl trisomy?
• Us tɛst dɛn we yu kin du bifo dɛn bɔn pikin fɔ kɔnfɔm if mi pikin gɛt jɛnɛtik kɔndishɔn?
• A kin gɛt bɛlɛ we go wok fayn afta dɛn dɔn no se a gɛt wan sik we dɛn kɔl trisomy?

Wetin na di difrɛns bitwin Trisomy ɛn Monosomy?

Dɛn tu tin ya na tin dɛn we pɔsin kin gɛt frɔm in jɛnɛtiks.

• Trisomy na di prεsεns fכ wan εkstra kכpi fכ wan kromozom.
• monosom na di absכns fכ wan kכpi fכ wan kromozom (i.e., di lכs fכ wan kromozom).

dis tu jεnεtik kכndishכn dεm de apin as a rizulεt fכ wan jεnεtik mכtεshכn we de apin we di sεl dεm de sheb. dis abnכmal tin dεm nכ kin fכ mek i nכ apin we di sεl dεm de sheb.

Wetin fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt (Take-Home Message) .

Bikɔs no we nɔ de fɔ mek yu nɔ gɛt prɔblɛm wit yu jɛnɛtiks lɛk trisomy, if yu de plan fɔ gɛt bɛlɛ, tɔk to yu dɔktɔ bɔt jenɛtik tɛst fɔ no if yu gɛt pikin we gɛt jɛnɛtik kɔndishɔn.

If dɛn no se yu gɛt trisomy kɔndishɔn we yu gɛt bɛlɛ, nɔ panik. Bɔrku sɔpɔt ɛn tin dɛn de fɔ ɛp yu ɛn yu pikin fɔ liv wɛl, layf we go mek yu gladi. Jɛnɛtik kɔyl kin ɛp yu fɔ ɔndastand yu pikin in kɔndishɔn ɛn gi yu di kia ɛn sɔpɔt we i nid as i de gro. Mɛmba se nɔto yu wangren de.

` Trisomy, kromozom, jin, Daun sindrom, bεlε, jεnεtik tεst, Patau sεndrכm, Edward sεndrכm