So woyɛ obi a obetumi asoa nneɛma? Momma yɛnka ‘Carrier Screening’ ho asɛm!

So woreyɛ nhyehyɛe sɛ wubefi abusua ase? Anaasɛ worehwɛ akokoaa kwan dedaw? Afei ɛsɛ sɛ wohu saa sɔhwɛ yi a wɔfrɛ no ‘Carrier Screening’ ampa. Eyi betumi aboa wo ma woadi kan ahu sɛnea ebetumi aba sɛ wobɛfa wo so de awosu mu nyarewa bi akɔ wo ba no nkyɛn. Momma yɛnka eyi ho asɛm nkɔ akyiri kakra, ɛnte saa? Eyi bɛboa wo ma woasisi gyinae a ɛho hia wɔ w’abusua ho.

Dɛn ankasa ne ‘ɔsoafo’?

Sɛ yɛbɛka no tiawa a, ‘ɔdefo’ yɛ obi a ɔwɔ nsakrae ketewaa bi wɔ awosu mu abɔde bi mu , anaasɛ momma yɛnka sɛ ɔyare mmoawa bi a ɛyɛ soronko, wɔ wo nipadua mu a ɛne akwahosan tebea pɔtee bi wɔ abusuabɔ. Nanso nea ɛyɛ nwonwa no, mpɛn pii no, saa mmoawa yi nkyerɛ yare no ho sɛnkyerɛnne anaa sɛnkyerɛnne biara . Nea enti a ɛte saa ne sɛ yɛwɔ awosu mu abɔde biara abien, biako fi yɛn maame hɔ na biako fi yɛn papa hɔ. Nea ɛto obi a ɔde nneɛma kɔ ne sɛ ɛwom sɛ mfonini biako wɔ sintɔ no de, nanso biako a ɛte apɔw no siw ne nkɛntɛnso ano. Enti wo nnya yare no. Nanso, hokwan wɔ hɔ sɛ wo ba no de awosu mu dɛmdi yi bɛma obi, titiriw sɛ wo hokafo nso yɛ obi a ɔwɔ yare koro no ara a.

Sɛ woyɛ nhwehwɛmu yi a, wɔde nea efi mu ba no sie koraa wɔ w’ayaresa ho kyerɛwtohɔ ahorow mu. Obiara ntumi mfa saa nsɛm no mma wo a wompene so. Afei nso, sɛnea mmara kyerɛ no, akwahosan ho insurance nnwumakuw anaa w’adwumawura biara ntumi nyɛ nyiyim ntia wo efisɛ awosu mu nhwehwɛmu a ɛte sɛ eyi mu aba no yɛ nea ɛnteɛ, titiriw sɛ anka wowɔ apɔwmuden a.

Wɔtaa de carrier screening di dwuma de hwehwɛ autosomal recessive nyarewa ahorow mu. Ebia eyi bɛyɛ te sɛ nyansahu mu asɛm, nanso sɛ yɛbɛka no tiawa a, sɛ abofra betumi anya yare no a, ɛsɛ sɛ awofo baanu no nyinaa yɛ wɔn a wɔde yare no kɔ. Eyi kyerɛ sɛ ɛsɛ sɛ awofo baanu no nyinaa nya awosu mu abɔde a asɛe no biako. Nnipa pii nnim mpo sɛ wɔyɛ ɔyarefo, efisɛ ebia obiara nni wɔn abusua mu a ɔwɔ yare no.

Bio nso, tebea horow kuw bi nso wɔ hɔ a wɔfrɛ no ‘X-linked’ . Eyinom ne X chromosome no wɔ abusuabɔ. Mpɛn pii no, ɔbea (mpɛn pii no XX) betumi ayɛ nea ɔde tebea yi ba. Nanso mpɛn pii no, wonnya yare no ho sɛnkyerɛnne kakraa bi anaasɛ wonnya bi koraa. Eyi te saa efisɛ wɔwɔ X chromosome abien. Sɛ ɔhaw bi wɔ biako ho a, ɔfoforo no na odi so. ‘Fragile X syndrome’ yɛ tebea a ɛte saa a ‘X-linked’ no mu biako, na wɔtaa de ka ‘Carrier Screening’ panels ho.

Bere bɛn na wɔyɛ saa carrier screening yi?

Sɛ woredwene sɛ wobɛwo ba a, ɛyɛ papa sɛ wobɛma wɔayɛ saa ‘Carrier Screening’ yi. Nokwarem no , eye sɛ wobɛyɛ nhwehwɛmu yi ansa na woanyinsɛn.. Afei wubetumi adi kan ahu sɛnea ɛda adi sɛ wo mma daakye benya awosu mu yare pɔtee bi. Sɛ wɔsɔ wo hwɛ wɔ tebea yi mu a, wunya bere susuw akwan horow a wobɛfa so afi abusua ase ho. Nhwɛsoɔ:

• Abofra a wɔfa wɔn sɛ wɔn mma yɛ adeyɛ a wɔde tete abofra.
• Sɛ yɛdan kɔ ‘in vitro fertilization’ (IVF - in vitro fertilization) kwan a wɔfa so de nkesua a wɔde ma anaa mmadwoa di dwuma no so.
• Awosu mu nhwehwɛmu a wɔyɛ ansa na wɔde ahyɛ nipadua mu: Nea ɛka eyi ho ne sɛ wɔbɛsɔ nkwaboaa a wɔde awarefo ankasa nkesua ne mmadwoa abɔ no awosu mu nneɛma ahwɛ ansa na wɔde ahyɛ ɛna no awotwaa mu.

Sɛ wuntumi nyɛ eyi ansa na woanyinsɛn a, ebia wo duruyɛfo bɛkamfo akyerɛ wo sɛ wɔnyɛ nhwehwɛmu a wɔde hwehwɛ sɛ wotumi nyinsɛn wɔ ɔsram abiɛsa a edi kan no mu . Sɛ woyɛ nhwehwɛmu yi wɔ nyinsɛn mu wie a, wubetumi ayɛ w’akwahosan ho nhyehyɛe wɔ wo nyinsɛn no mu bere a aka no. Ebia wubehia nhwehwɛmu afoforo nso, te sɛ amniocentesis anaa chorionic villus sampling (CVS) , na ama woahu akokoaa no akwahosan bio. Wo duruyɛfo nso betumi ayɛ nhyehyɛe ama ahiade titiriw biara a ebia wo ba no benya wɔ n’awo akyi.

Hena na ohia sɔhwɛ yi ankasa?

Nokwarem no, ɛyɛ adwene pa sɛ awarefo biara a wɔresusuw ho sɛ wobefi abusua ase no susuw ho sɛ wɔbɛhwehwɛ wɔn a wɔde wɔn kɔ no mu. Sɛ yɛka ne nyinaa bom a, ɛtaa ba sɛ obi yɛ obi a ɔde awosu mu tebea bi ba. Anyɛ yiye koraa no, ɛda adi sɛ mmusuakuw pii na wɔde awosu mu tebea biako ba.

Ebia nnipa a wodi so yi titiriw na wɔwɔ asiane kɛse mu sɛ wɔbɛyɛ wɔn a wɔde nneɛma kɔ:

• Sɛ obi a ɔwɔ abusua no mu (abofra a wadi kan anaa ne busuani bi) wɔ awosu mu yare a, sɛ́ ɛyɛ autosomal recessive anaasɛ X-linked yare no.
• Anaasɛ, sɛ wonim obi a ɔwɔ abusua no mu dedaw sɛ ɔwɔ awosu mu yare bi a.

Henanom na wɔyɛ saa nhwehwɛmu ahorow a wɔde hwehwɛ nnipa a wɔde wɔn kɔ nnipa mu yi?

Wubetumi afa nnuruyɛfo yi so ayɛ saa ‘Carrier Screening’ sɔhwɛ yi:

• Awo ho ɔbenfo.
• Awosu ho ɔfotufo anaa aduruyɛ mu awosu ho ɔbenfo.
• Awo ne mmea ho oduruyɛfo (An OB/GYN).

Nyarewa ahorow bɛn na wɔhwehwɛ mu denam carrier screening so?

Mpɛn pii no, carrier screening hwehwɛ autosomal recessive tebea kakraa bi a ɛtaa ba. Eyinom bi ne:

• Cystic fibrosis a ɛma mogya tu
• Fragile X syndrome (eyi yɛ nea ɛne X wɔ abusuabɔ) .
• Sickle cell yare a ɛma obi nya yare
• Tay-Sachs yare no
• Thalassemia a ɛwɔ nipadua no mu

Dɛn ne Expanded Carrier Testing?

Sɛ wopɛ a, wubetumi nso anya ‘expanded carrier testing’ . Eyi yɛ nyarewa ahorow pii ho nhwehwɛmu sen nhwehwɛmu kakraa bi a yɛadi kan aka ho asɛm no. Seesei, nnuruyɛfo taa kamfo nhwehwɛmu a wɔatrɛw mu yi kyerɛ. Ebetumi akata nyarewa afoforo pii, ebia mpempem pii, de aka nyarewa a yɛaka ho asɛm wɔ atifi hɔ no ho. Nhwɛso ahorow bi ni:

• 'Awo mu adrenal hyperplasia (CAH)' `(Awo mu adrenal hyperplasia (CAH))`
• Akyi berɛmo mu ntini a ɛyɛ mmerɛw
• Turner yare a ɛma obi nya ɔyare no
• Wilson yare no

Dɛn ne Targeted Carrier Screening?

Fa no sɛ awosu mu nyarewa bi wɔ w’abusua mu. Sɛ ɛba saa a, sɛ wompɛ sɛ woyɛ expanded carrier screening no a, wubetumi ayɛ ‘targeted carrier screening’ . Ɛne sɛ, yɛhwehwɛ saa nyarewa pɔtee a ɛfa w’abusua ho no nkutoo.

Afei nso, tebea horow bi taa ka nnipa a wofi abusua bi mu. Sɛ ɛte saa wɔ wo fam a, ebia wo duruyɛfo bɛhyɛ nyansa sɛ wɔnyɛ ‘carrier screening panel’ a ɛkata saa tebea horow no nkutoo so.

Ɔkwan bɛn so na wɔyɛ sɔhwɛ yi (Carrier Screening)?

Carrier Screening hwehwɛ sɛ wogye wo mogya, wo nnompe, anaa wo hwene mu nsu ketewaa bi . Wo duruyɛfo no bɛpaw akwan yi mu biako a egyina w’ahiade so:

• Mogya mu nhwehwɛmu.
• Nnompe mu nhwehwɛmu.
• Fa tissue sample fi anim no mu denam swab so (Tissue test).

So ɛsɛ sɛ wusiesie wo ho pɔtee ma eyi?

Sɛ woreyɛ wo nnompe mu nhwehwɛmu anaasɛ woreyɛ wo ntini mu nhwehwɛmu a, wobetumi aka akyerɛ wo sɛ kwati adidi anaa anonne bere tiaa bi ansa na wɔayɛ nhwehwɛmu no. Sɛ ɛnyɛ ɛno a, mpɛn pii no, ɛho nhia sɛ wɔyɛ ahosiesie titiriw biara na wɔde ahwehwɛ wɔn a wɔde wɔn kɔ no mu.

Dɛn na ɛba wɔ sɔhwɛ no akyi? Bere a wonya nea efi mu ba no?

Wo duruyɛfo de mogya, nnompe, anaa ntini bi a efi wo hɔ bɛkɔ akɔma awosu ho nhwehwɛmubea titiriw bi ma wɔayɛ mu nhwehwɛmu. Ɛdenam sɔhwɛ ko a woyɛɛ so no, wubenya nea efi mu ba no wɔ nna kakraa bi anaa adapɛn kakraa bi mu .

Sɛ wunya nea efi mu ba no wie a, ebia wo duruyɛfo de wo bɛkɔ awosu ho ɔfotufo nkyɛn . Eyinom yɛ nnipa a wɔanya ntetee titiriw wɔ awosu mu tebea horow ho. Wobetumi:

• Bua nsɛmmisa biara a wowɔ fa sɛ wobɛyɛ obi a ɔde nneɛma fa nneɛma ho.
• Sɛ wopɛ a, yɛsrɛ wo fa nsɛm a ɛho hia ma na ama w’abusua abɔ wo carrier tebea ho amanneɛ.
• Fa abusua nhyehyɛe a wobetumi apaw ho nsɛm ma.
• Sɛ ɛho hia a, fa wo kɔ akwahosan ho adwumayɛfo afoforo nkyɛn.

So asiane ahorow bi wɔ sɔhwɛ yi mu?

Sɛ woyi wo mogya a, ebia wobɛte ɛyaw kakra bere a wode ade no ahyɛ mu no, anaasɛ wobɛte nka sɛ woapirapira kakra wɔ ɛno akyi. Eyi yɛ ade a ɛfata.

Ansa na wobɛyɛ carrier screening no, wo ne wo duruyɛfoɔ nkasa mfa mfasoɔ ne anohyetoɔ a ɛwɔ nhwehwɛmu yi so. Sɛ nhwɛso no, hokwan ketewaa bi wɔ hɔ sɛ ebia ɛnyɛ sɛ woyɛ obi a ɔwɔ yare no nko, na mmom ebia wowɔ yare no bi a emu nyɛ den nso (eyi ntaa nsi). Ebia nnipa binom bɛte adwennwen anaa adwennwene nka sɛ wɔbɛyɛ sɔhwɛ yi. Wo ne wo duruyɛfo nkasa mfa wo suro ne nneɛma a ɛhaw wo ho. Nya adwenemyareɛ ho mmoa sɛ ɛho hia a.

Dɛn na nea efi mu ba no ka?

• Nea efii mu bae a enye: Eyi kyerɛ sɛ sɔhwɛ no anhu awosu mu nneɛma a wonim mprempren wɔ wo nipadua mu no biara. Wɔ eyi mu no, asiane a ɛwɔ hɔ sɛ wo mma benya awosu mu yare bi afi awo mu no sua koraa. Nanso, carrier screening ntumi nhu wɔn a wɔde yareɛ biara kɔ 100%. Enti, nea enye a ebefi mu aba no nkyerɛ sɛ wo mma rennya awosu mu yare biara .

• Nea efi mu ba pa: Sɛ wo Carrier Screening nhwehwɛmu no ma wonya nea eye a, ɛkyerɛ sɛ woyɛ obi a ɔde awosu mu akwahosan tebea biako anaa nea ɛboro saa kɔ. Sɛ nea efi mu ba no yɛ papa a, ɛsɛ sɛ wususuw ho sɛ wobɛma wɔayɛ wo hokafo a ɔwo no nso nhwehwɛmu .

Fa no sɛ wo ne wo hokafo no nyinaa wɔ autosomal recessive tebea koro no ara . Afei abofra biara a wowɔ no wɔ hokwan a edidi so yi:

• Hokwan wɔ hɔ sɛ 25% (baanan biara mu biako) benya awosu mu nkwaadɔm a asɛe abien no nyinaa (baako afi ɛna no hɔ na biako afi agya no hɔ) na wɔawo no a ɔwɔ tebea no .
• Hokwan wɔ hɔ a ɛyɛ 50% (baako wɔ baanu biara mu) sɛ wobenya awosu mu abɔde biako pɛ a asɛe (a efi ɛna anaa agya no hɔ) na wabɛyɛ nea ɔde ɔyare no . Nanso saa abofra no rennya yare no.
• Hokwan wɔ hɔ sɛ 25% (baanan biara mu biako) benya awosu mu nkwaadɔm a ɛwɔ apɔwmuden abien no nyinaa, na ɛnyɛ nea ɛde yare no ba anaasɛ ɛnyɛ nea ɛde ne ho .

Bere tenten ahe na egye ansa na wɔahu nea efi mu ba?

Mpɛn pii no, awosu mu nhwehwɛmu gye nna kakraa bi kosi adapɛn kakraa bi ansa na wɔawie. Bisa wo duruyɛfo bere a wubetumi ahwɛ nea ebefi mu aba no kwan.

So ɛsɛ sɛ mesan kɔ oduruyɛfo nkyɛn bio?

Wo ne wo duruyɛfo nkasa wɔ nsɛm yi mu:

• Sɛ woannya nea efi mu ba wɔ bere a mopenee so no mu a.
• Ɛwom mpo sɛ wo nsa aka wo aba no de, nanso woda so ara wɔ nsɛmmisa fa ho.
• Sɛ wopɛ sɛ woka akwan horow a wubetumi afa so afi abusua ase ho asɛm a.

Nea etwa to no, nneɛma a ɛho hia sen biara a ɛsɛ sɛ yɛkae

Enti, mewɔ anidaso sɛ seesei woanya ntease pa wɔ sɔhwɛ yi a wɔfrɛ no ‘Carrier Screening’ ho. Ade kɛse a wubenya afi eyi mu ne sɛ wɔbɛma wo tumi a wode besisi gyinae a ɛfata wɔ wo ba a wobɛba daakye no ho. Afei nso, ebia eyi bɛboa wo ma woayi ehu ne adwenem naayɛ biara a ebia wowɔ no afi hɔ na woanya asomdwoe .

Kae sɛ ntwentwɛn wo nan ase da sɛ wo ne wo duruyɛfo, ne sɛ ɛho hia a, awosu ho ɔfotufo, bɛkasa afa sɛnea wobɛtoa so adi nea efi mu ba yi ho. W’adwene mu akwahosan nso ho hia yiye, enti hwehwɛ mmoa ma ɛno sɛ wuhia a. Eyi nyinaa yɛ abusua a apɔwmuden na anigye wom.

` Gene carrier testing, carrier screening, awosu mu nyarewa, awosu mu nhwehwɛmu, nyinsɛn, abusua nhyehyɛe, awosu mu afotu