Yu na pɔsin we go ebul fɔ kɛr pipul dɛn go? Lɛ wi tɔk bɔt ‘Carrier Screening’!

Yu de plan fɔ mek yu gɛt famili? Ɔ yu dɔn ɔlrɛdi de op fɔ gɛt pikin? Dɔn yu fɔ rili no bɔt dis tɛst we dɛn kɔl ‘Carrier Screening’. Dis kin ɛp yu fɔ no bifo tɛm bɔt di pɔsibul fɔ pas sɔm sik dɛn we yu kin gɛt frɔm yu pikin tru yu. Lɛ wi tɔk bɔt dis smɔl mɔ, nɔto so? Dis go ɛp yu fɔ disayd fɔ du impɔtant tin dɛn bɔt yu famili.

Wetin rili na ‘kɛriɔ’?

Fɔ tɔk am simpul wan, ‘carrier’ na pɔsin we gɛt smɔl chenj na wan jin , ɔ lɛ wi se wan pathogenic variant, na yu bɔdi we gɛt fɔ du wit wan patikyula wɛlbɔdi kɔndishɔn. Bɔt i sɔprayz fɔ no se bɔku tɛm, dɛn pipul ya we gɛt dis sik nɔ kin sho ɛni sayn ɔ sayn fɔ di sik. Di rizin fɔ dis na bikɔs wi gɛt tu kɔpi fɔ ɛni jin, wan frɔm wi mama ɛn wan frɔm wi papa. Wetin kin apin to pɔsin we de kɛr am na dat pan ɔl we wan kɔpi gɛt di prɔblɛm, di ɔda kɔpi we gɛt wɛlbɔdi kin stɔp in ifɛkt. So yu nɔ de gɛt di sik. Bɔt chans de fɔ mek yu pikin pas dis jenɛtik dɛfɛkt, mɔ if yu patna sɛf gɛt di sem sik.

We yu gɛt dis tɛst, dɛn kin kip di rizɔlt strikt kɔnfidɛns na yu mɛdikal rɛkɔd. Nɔbɔdi nɔ go ebul fɔ gi yu da infɔmeshɔn de if yu nɔ gri fɔ du dat. Dɔn bak, bay lɔ, di wɛlbɔdi inshɔrans kɔmni dɛn ɔ di pɔsin we de gi yu wok nɔ go ebul fɔ diskriminayt yu bikɔs di rizɔlt fɔ yu jenɛtik tɛst lɛk dis nɔ nɔmal, mɔ if yu gɛt wɛlbɔdi ɔda we.

כltεm dεn kin yuz kεriכn skrεnin fכ skrεn f כ כtosom rεsεsiv sik dεm. Dis kin tan lɛk sayɛns wɔd, bɔt fɔ tɔk am simpul wan, fɔ mek pikin gɛt di sik, in mama ɛn papa ɔl tu fɔ gɛt di sik. Dis min se di mama ɛn papa dɛn ɔl tu fɔ gɛt wan kɔpi fɔ di jin we nɔ fayn. Bɔrku pipul nɔr kin ivin no se dɛn na pɔrsin wae gɛt dis sik, bikɔs nɔrbɔdi na dɛn famili nɔr kin gɛt dis sik.

pan tap dat, wan grup f כ kכndishכn dεm de bak we dεn kכl ‘X-linked’ . Dɛn tin ya gɛt fɔ du wit di X kromozom. כltu, uman (usually XX) kin bi di wan we de kכri dis kכndyushכn. Bɔt bɔku tɛm, dɛn nɔ kin gɛt bɛtɛ sayn ɔ nɔ kin gɛt ɛni sayn. Dis na bikɔs dɛn gɛt tu X kromozom dɛn. If prɔblɛm de wit wan, na di ɔda wan de kɔntrol am. ‘Fragile X syndrome’ na wan pan dɛn kayn ‘X-linked’ kɔndishɔn, ɛn bɔku tɛm dɛn kin put am insay ‘Carrier Screening’ panɛl dɛn.

Ustɛm dɛn kin du dis kariɔ skrinin?

If yu de tink fɔ bɔn pikin, i fayn fɔ mek dɛn du dis ‘Carrier Screening’. Infakt , i bɛtɛ fɔ mek dɛn du dis tɛst bifo yu gɛt bɛlɛ.. Dɔn yu kin no bifo tɛm aw i go bi se yu pikin dɛn we yu go gɛt tumara bambay go gɛt wan patikyula sik we dɛn kin gɛt frɔm dɛn jɛnɛtiks. We dɛn tɛst yu pan dis kayn tin, yu kin gɛt tɛm fɔ tink bɔt difrɛn we dɛn fɔ bigin famili. Fɔ ɛgzampul:

• Adopshɔn na di akt fɔ mɛn pikin.
• tכn to di ‘in vitro fεtilayzεshכn' (IVF - in vitro fεtilayzεshכn) mεtכd we yu de yuz dכna eg כ sεl dεm.
• di jεnεtik tεst we dεn de du bifo dεn put am: dis na fכ tεst di jεnεtik mek-ap fכ di εmbrayo dεm we dεn mek frכm di man εn uman in yon eg εn sεl bifo dεn put dεm na di mama in uterus.

If yu nɔ ebul fɔ du dis bifo yu gɛt bɛlɛ, yu dɔktɔ kin tɛl yu fɔ du tɛst fɔ no if yu gɛt bɛlɛ insay di fɔs tri mɔnt . We yu dɔn du dis tɛst we yu gɛt bɛlɛ, yu kin plan fɔ kia fɔ yu wɛlbɔdi biznɛs fɔ di ɔda pat we yu gɛt bɛlɛ. Yu kin nid ɔda tɛst dɛn bak, lɛk amniocentesis ɔ chorionic villus sampling (CVS) , fɔ no mɔ bɔt di pikin in wɛlbɔdi. Yu dɔktɔ kin plan bak fɔ ɛni spɛshal nid we yu pikin go gɛt afta dɛn bɔn am.

Udat rili nid dis tɛst?

Infakt, i fayn fɔ mek ɛvri man ɛn in wɛf we de tink bɔt fɔ stat famili fɔ tink bɔt fɔ chɛk di pɔsin we gɛt di sik. Ɔl togɛda, na kɔmɔn tin fɔ mek pɔsin gɛt sɔm kayn jɛnɛtik kɔndishɔn. Bɔku etnik grup dɛn kin gɛt at le wan jenɛtik kɔndishɔn.

Dɛn pipul ya mɔr kin gɛt bɔrku risk fɔ bi pɔrsin wae gɛt dis sik:

• If pɔsin na di famili (we na in pikin we i bin dɔn bɔn ɔ in fambul) gɛt jɛnɛtik sik, ilɛksɛf na ɔtosomal rɛsɛsiv ɔ X-linked sik.
• Ɔ, if sɔmbɔdi na di famili dɔn ɔlrɛdi no se i gɛt wan sik we de kɔmɔt frɔm in jɛnɛtiks.

Udat de du dɛn kayn tɛst ya fɔ chɛk pɔsin we gɛt di sik?

Yu kin gɛt dis ‘Carrier Screening’ tɛst fɔ du tru dɛn dɔktɔ ya:

• Wan spɛshal pɔsin we sabi bɔt aw fɔ bɔn pikin.
• Wan pɔsin we de advays pipul dɛn bɔt dɛn jɛnɛtiks ɔ pɔsin we sabi bɔt aw fɔ mɛn pipul dɛn we gɛt jɛnɛtiks.
• Wan dɔktɔ we de mɛn uman dɛn we de bɔn pikin ɛn we de mɛn uman dɛn (An OB/GYN).

Us kayn sik dɛn kin skan fɔ bay we dɛn de chɛk di wan dɛn we gɛt di sik?

di kεriכn skrinin mכst tεm de luk fכ fכ kכmכn כtosom rεsεsiv kכndishכn dεm. Sɔm pan dɛn tin ya na:

• Sistik fibrosis we de mek pɔsin gɛt sik
• Fragile X syndrome (dis na wan X-linked) .
• Siklɔs sik sik
• Di sik we dɛn kɔl Tay-Sachs
• Thalassemia we dɛn kɔl Thalassemia

Wetin na Ɛkspɛnd Kɛri Tɛst?

If yu want, yu kin gɛt ‘expanded carrier testing’ bak . Dis kin tɛst fɔ bɔku bɔku sik dɛn pas di smɔl tɛst we wi bin dɔn tɔk bɔt. Naw, bɔku tɛm dɔktɔ dɛn kin se dɛn fɔ du dis tɛst we dɛn dɔn ɛkspɛn. I kin kɔba bɔku ɔda sik dɛn, sɔntɛm bɔku bɔku sik dɛn, apat frɔm di sik dɛn we wi dɔn tɔk bɔt. Na sɔm ɛgzampul dɛn ya:

• 'Konjenital adrenal haypaplasia (CAH)' `(Konjenital adrenal haypaplasia (CAH))`
• Spinal mכskul dεm we de atrofi
• Turner sindrom we gɛt di sik
• Wilson sik

Wetin na Targeted Carrier Screening?

Imajin se sɔm sik dɛn de we yu kin gɛt frɔm yu famili. If na so i bi, if yu nɔ want fɔ du di ɛkspandad karia skrinin, yu kin du ‘targeted carrier screening’ . Dat min se, wi kin jɔs luk fɔ dɛn patikyula sik dɛn we gɛt fɔ du wit yu famili.

Dɔn bak, sɔm tin dɛn kin afɛkt pipul dɛn we gɛt sɔm gret gret granpa dɛn. If na so i bi fɔ yu, yu dɔktɔ kin tɛl yu fɔ mek yu gɛt ‘carrier screening panel’ we de kɔba dɛn kɔndishɔn dɛn de nɔmɔ.

Aw dɛn kin du dis tɛst (Carrier Screening)?

Carrier Screening nid fɔ tek smɔl blɔd, saliva, ɔ swab na yu chɛst . Dipen pan wetin yu nid, yu dɔktɔ go pik wan pan dɛn we ya:

• Blɔd tɛst.
• Saliva tɛst.
• fכ tek tisu sεmpl frכm insay di chεk wit swab (Tissu test).

Yu nid fɔ rɛdi spɛshal wan fɔ dis?

If yu de du saliva tɛst ɔ tisu tɛst, dɛn kin aks yu fɔ lɛf fɔ it ɔ drink fɔ shɔt tɛm bifo di tɛst. Ɔda pas dat, dɛn nɔ kin nid spɛshal prɛparashɔn fɔ mek dɛn chɛk di pɔsin we gɛt di sik.

Wetin kin apin afta di tɛst? We dɛn kin gɛt di rizɔlt?

Yu dɔktɔ go sɛn blɔd, saliva, ɔ tisu sɛmpul frɔm yu to spɛshal jenɛtiks lab fɔ analayz. Dipen pan di kayn tɛst we yu bin gɛt, yu go gɛt di rizɔlt insay sɔm dez ɔ sɔm wiks .

Afta yu dɔn gɛt yu rizɔlt, yu dɔktɔ kin sɛn yu to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dis na pipul dɛm wae dɔn gɛt spɛshal trenin bɔt aw dɛn kin gɛt jɛnɛtiks. Dɛn kin:

• Ansa ɛni kwɛstyɔn we yu gɛt bɔt fɔ bi pɔsin we de kɛr pipul dɛn go.
• If yu want, duya gi di infɔmeshɔn we yu nid fɔ tɛl yu famili bɔt yu kariɔ stetɔs.
• Gi infɔmeshɔn bɔt di tin dɛn we yu go ebul fɔ du fɔ plan famili.
• Rifer yu to ɔda pipul dɛn we de kia fɔ yu wɛlbɔdi biznɛs if nid de.

Ɛni risk de wit dis tɛst?

We dɛn pul yu blɔd, yu kin fil smɔl pen we dɛn put di nidul, ɔ yu kin fil smɔl brus afta dat. Dis na nɔmal tin.

Bifo yu gɛt carrier screening, tɔk to yu dɔktɔ bɔt di bɛnifit ɛn di limit dɛm fɔ dis tɛst. Fɔ ɛgzampul, smɔl chans de fɔ mek yu nɔr jɔs bi pɔrsin wae gɛt dis sik, bɔt yu kin gɛt dis sik wae nɔr kin pasmak (dis nɔr kin bɔrku). Sɔm pipul kin fil strɛs ɔr wɔri fɔ gɛt dis tɛst. Tɔk to yu dɔktɔ bɔt di tin dɛn we yu de fred ɛn di tin dɛn we de mɔna yu. Gɛt ɛp fɔ mɛn yu maynd if nid de.

Wetin di rizɔlt dɛn se?

• Negativ risal: Dis min se di tɛst nɔ bin no ɛni wan pan di jɛnɛtik we dɛn no naw na yu bɔdi. If na so i bi, di risk fɔ mek yu pikin dɛn gɛt wan sik we dɛn kin gɛt frɔm dɛn jɛnɛtiks kin rili smɔl. Bɔt, we dɛn de chɛk di wan dɛn we de kɛr di sik nɔ kin ebul fɔ no 100% pan di wan dɛn we de kɛr ɛvri sik. So, if yu gɛt bad tin fɔ du, dat nɔ go mek yu pikin dɛn nɔ gɛt ɛni sik we dɛn kin gɛt frɔm dɛn jɛnɛtiks .

• Pozitiv rizulyt: If yu Carrier Screening test rizulyt in positive rizulyt, dat min se yu na karia fɔ wan ɔ mɔ jenɛtik wɛlbɔdi kɔndishɔn. If yu rizɔlt fayn, yu fɔ tink bɔt fɔ mek dɛn tɛst yu patna we de bɔn pikin bak .

Imajin se yu ɛn yu patna ɔl tu gɛt di sem ɔtosomal rɛsɛsiv kɔndishɔn . Dɔn ɛni pikin we yu gɛt gɛt dɛn chans ya:

• 25% (wan pan 4) chans de fɔ gɛt ɔl tu di jin dɛm we nɔ fayn (wan frɔm di mama ɛn wan frɔm di papa) ɛn bɔn wit di sik .
• 50% (wan pan tu) chans de fɔ gɛt jɔs wan jin we nɔ fayn (frɔm di mama ɔ di papa) ɛn bi pɔsin we gɛt di sik . Bɔt da pikin de nɔ go gɛt di sik.
• 25% (wan pan fכ) chans de fכ gεt di tu hεlty jin dεm, we nכ de kכriכnt כ ​​fri frכm di sik .

Aw lɔng i kin tek fɔ no di tin dɛn we kin apin?

Bɔku tɛm, di jenɛtik tɛst kin tek sɔm dez to sɔm wiks fɔ dɔn. Aks yu dɔktɔ ustɛm yu go ebul fɔ ɛkspɛkt yu rizɔlt.

A fɔ go to di dɔktɔ bak?

Kɔntakt yu dɔktɔ pan dɛn kayn tin ya:

• If yu nɔ gɛt rizɔlt insay di tɛm we yu bin gri fɔ.
• Pan ɔl we yu dɔn gɛt yu rizɔlt, yu stil gɛt kwɛstyɔn dɛn bɔt dɛn.
• If yu want fɔ tɔk bɔt di tin dɛn we yu go ebul fɔ du fɔ bigin famili.

Fɔ dɔn, di tin dɛn we impɔtant pas ɔl we wi fɔ mɛmba

So, a op se yu dɔn ɔndastand dis tɛst we dɛn kɔl ‘Carrier Screening’ naw. Di big tin we yu go gɛt frɔm dis na dat yu go gɛt pawa fɔ disayd fɔ du gud tin bɔt yu pikin we yu go gɛt tumara bambay. Dɔn bak, sɔntɛm dis go ɛp yu fɔ pul ɛni fred ɛn dawt we yu gɛt ɛn gɛt kolat na yu maynd .

Mɛmba se, nɔ ɛva shem fɔ tɔk to yu dɔktɔ, ɛn if nid de, yu fɔ tɔk to yu jenɛtik advaysa, bɔt aw fɔ go bifo wit dɛn rizɔlt ya. Yu maynd wɛl bɔdi bak rili impɔtant, so luk fɔ sɔpɔt fɔ dat if yu nid am. Dis ɔl na fɔ mek famili gɛt wɛlbɔdi ɛn gladi at.

` Jεn kεriכ tεst, kεriכ skrεning, hεriditi sik dεm, jεnεtik tεst, bεlε, famili planin, jεnεtik kכnsεl