So wo ne wo hokafo no resusuw ho sɛ mobɛwo akokoaa? Anaasɛ woanyinsɛn dedaw? Ɛnde nea yɛrebɛka ho asɛm nnɛ no bɛyɛ nea ɛho hia wo paa. Ɛtɔ mmere bi a, sɛ yɛwɔ apɔwmuden koraa mpo a, ebia yɛwɔ nsakrae a ahintaw wɔ yɛn nipadua mu, kyerɛ sɛ, yɛn awosu mu, a ɛfa nyarewa bi ho. Eyi ne bere a wɔka sɛ yɛyɛ ‘wɔde’ yare pɔtee bi. Ɛnnɛ yɛrebɛka ‘carrier screening’ ho asɛm, a wɔyɛ de hwehwɛ sɛ yɛyɛ carrier anaa.
Sɛ yɛbɛka no tiawa a, dɛn na ‘ɔsoafo’ a obi bɛyɛ?
Susuw ho hwɛ, wɔ su biara a ɛwɔ yɛn nipadua mu (e.g. ti nhwi kɔla, aniwa kɔla) ho no, yɛwɔ awosu mu abɔde no mfonini abien. Baako na yenya fi yɛn maame hɔ, na biako nso fi yɛn papa hɔ. ‘Crrier’ yɛ obi a ɔwɔ sintɔ anaa nsakrae ketewaa bi (pathogenic variant) wɔ gene no mfonini abien a ɛne yare pɔtee bi wɔ abusuabɔ no biako mu.
Nanso, esiane sɛ awosu mu abɔde no mfonini foforo no wɔ apɔwmuden nti, ‘ɛbrɛ’ nea ɔwɔ dɛmdi no dwumadi ase. Enti worenkyerɛ yare no ho sɛnkyerɛnne biara. Wowɔ apɔwmuden. Nanso wowɔ tumi a wode awosu mu abɔde a asɛe yi bɛma wo mma. Ɛno ne nea wɔfrɛ wo 'carrier'.
Mpɛn pii no, saa nhwehwɛmu ahorow a wɔde soa nneɛma yi hwehwɛ nyarewa a wonya fi awo mu wɔ ‘autosomal recessive’ kwan so. Eyi kyerɛ sɛ, sɛ abofra bi benya yare no a, ɛsɛ sɛ awofo baanu no nyinaa yɛ wɔn a wɔde yare no kɔ. Mpɛn pii no, obiara nnim sɛ wɔyɛ soafo. Nea enti a ɛte saa ne sɛ ebia abusua no mu obiara nni hɔ a ɔwɔ yare no.
Bio nso, awosu mu nyarewa ahorow bi wɔ hɔ a wɔfrɛ no ‘X-linked’ tebea horow. Wɔnam ɔbarima ne ɔbea nna mu nkwaadɔm so nya eyinom fi awo mu. Wɔnam sɔhwɛ ahorow bi a wɔde sɔ nneɛma so nso sɔ eyinom hwɛ.
Bere bɛn na wɔyɛ saa carrier screening yi? Dɛn nti na ɛho hia?
Bere a eye sen biara na ɛfata sɛ wobɛyɛ nhwehwɛmu yi ne ansa na woayɛ nhyehyɛe mpo sɛ wubenyinsɛn. Saa kwan no so no, wunya bere pii a wode begyina nea ebefi mu aba so asi wo daakye ho gyinae, a worenhaw wo ho na woanya asomdwoe.
Fa no sɛ, sɛ wuhu sɛ mo baanu nyinaa kura yare koro a, wubetumi asusuw akwan horow a wubetumi afa so ho.
- Abofra a wɔde obi foforo nkesua anaa mmadwoa di dwuma (IVF a wɔde donor eggs anaa mmadwoa di dwuma).
- Nea ɛka awosu mu nhwehwɛmu a wɔyɛ ansa na wɔde ahyɛ nipadua mu no hwehwɛ sɛ wɔsɔ awotwaa no awosu mu nkwaadɔm hwɛ na wɔde awotwaa a ɛte apɔw nkutoo hyɛ awotwaa no mu.
- Abofra a wɔfa no sɛ wɔn mma.
Sɛ woantumi anyɛ nhwehwɛmu yi ansa na worenyinsɛn a, wubetumi akɔ so ayɛ wɔ wo nyinsɛn no fã a edi kan no mu . Ɛno mpo no, wubenya hokwan agyina nea ebefi mu aba so ayɛ wo nyinsɛn daakye ho nhyehyɛe, na sɛ ɛho hia a, wobɛyɛ nhwehwɛmu foforo te sɛ amniocentesis de akyerɛ sɛ akokoaa no tebea no te.
Nyarewa bɛn na nhwehwɛmu yi hwehwɛ?
Carrier nhwehwɛmu hwehwɛ awosu mu nyarewa pii a ɛtaa ba. Ebi ne:
- Cystic fibrosis a ɛma mogya tu
- Sickle cell yare a ɛma obi nya yare
- Thalassemia - Eyi yɛ tebea a ɛtaa ba wɔ Sri Lanka.
- Tay-Sachs yare no
- Fragile X a ɛyɛ mmerɛw
Eyinom akyi no, mprempren nhwehwɛmu ahorow bi wɔ hɔ a wɔfrɛ no ‘Expanded carrier testing’ a ebetumi asɔ nyarewa afoforo du du pii ahwɛ prɛko pɛ. Sɛ obi wɔ w’abusua mu wɔ awosu mu yare pɔtee bi a, wubetumi nso ayɛ nhwehwɛmu a wɔde asi saa yare no so (Targeted carrier screening). Wubetumi ne wo duruyɛfo asusuw eyinom nyinaa ho na woasi gyinae.
Ɔkwan bɛn so na wɔyɛ sɔhwɛ no? So ɛyɛ asɛm kɛse?
Nte saa koraa. Eyi yɛ mmerɛw yiye na ɛnyɛ yaw. Wunni biribiara a ɛsɛ sɛ wusuro ɔkwan biara so.
Wɔtaa de akwan a edidi so yi mu biako na ɛyɛ sɔhwɛ yi:
- Mogya mu nhwehwɛmu: Woyi mogya kakraa bi fi wo nsa mu.
- Nnompe mu nhwehwɛmu: Wɔboaboa wo nnompe kakraa bi ano wɔ afiri bi mu.
- Ntini mu nhwehwɛmu: Wɔde aduru ketewaa bi na ɛyɛ wo hwene mu .
Sɛ wɔrefa nhwɛsode bi afi nnompe anaa hwene mu a, wobetumi ahyɛ wo fo sɛ kwati adidi anaa anonne bere tiaa bi ansa na wɔayɛ nhwehwɛmu no. Sɛ ɛno da nkyɛn a, ahosiesie titiriw biara ho nhia.
Dɛn na nea efi mu ba no ka? Yɛte ase dɛn?
Wɔde wo nhwɛsode no kɔ awosu ho nhwehwɛmubea titiriw bi ma wɔyɛ ho nhwehwɛmu. Ebetumi agye nna anaa adapɛn kakraa bi ansa na nea efi mu ba no asan aba.
Sɛ nea efi mu ba ne 'Negative' a...
Eyi kyerɛ sɛ wɔanhu awosu mu sintɔ ahorow a ɛfa nyarewa a wɔsɔɔ wo hwɛe no ho wɔ wo nipadua mu. Eyi kyerɛ sɛ asiane a ɛwɔ hɔ sɛ wo mma benya saa nyarewa no sua koraa. Nanso wontumi nka sɛ ɛyɛ 100% zero, efisɛ ebia saa nhwehwɛmu ahorow yi renkyere awosu mu sintɔ biara. Nanso wubetumi ate ahotɔ kɛse nka sɛ asiane no sua koraa.
Sɛ nea efi mu ba ne 'Positive' a...
Eyi kyerɛ sɛ woyɛ obi a wokura awosu mu nyarewa biako anaa nea ɛboro saa. Mma wo ho nnyɛ wo hu bere a wote eyi no. Eyi nkyerɛ sɛ wowɔ yare bi. Woda so ara wɔ apɔwmuden.
Nanso ade a ɛho hia sen biara a ɛsɛ sɛ woyɛ saa bere yi ne sɛ wobɛma wɔayɛ wo hokafo no nso mu nhwehwɛmu ahu yare no.
Na sɛ mo baanu nyinaa kura yare koro nso ɛ?
Eyi ne baabi a ɛsɛ sɛ yɛde yɛn adwene si so. Sɛ wo ne wo hokafo nyinaa wɔ autosomal recessive yare koro no ara a, hokwan ahorow a ɛwɔ hɔ sɛ abofra biara a wowɔ no benya bi ni:
| Abofra no tebea | Nea ebetumi aba |
|---|---|
| Sɛ wobenya awosu mu nkwaadɔm a asɛe abien no nyinaa na wɔde yare no awo no | 25% (1 wɔ 4 biara mu hokwan) . |
| Sɛ́ wowɔ awosu mu abɔde biako pɛ a asɛe na woyɛ obi a ɔde ɔyare no ba a onni sɛnkyerɛnne biara | 50% (1 wɔ 2 mu hokwan) . |
| Sɛ wɔbɛwo obi a ɔwɔ apɔwmuden koraa , a awosu mu nkwaadɔm biara nni mu | 25% (1 wɔ 4 biara mu hokwan) . |
Sɛ wunya nea efi mu ba yi wie a, wo duruyɛfo no de wo bɛkɔ Awosu mu Ɔfotufo , obi a ɔwɔ ntetee titiriw ne nimdeɛ wɔ awosu mu nyarewa ho nkyɛn. Ɔbɛkyerɛkyerɛ tebea no mu akyerɛ wo akɔ akyiri, abua wo nsɛmmisa, na wasusuw anammɔn a edi hɔ a ebetumi aba ho.
So asiane bi wɔ sɔhwɛ yi mu?
Wɔ nipadua mu no, asiane akɛse biara nni hɔ a ɛnyɛ sɛ wobɛte ɛyaw kakra a ɛyɛ yaw bere a wɔretwe mogya no.
Nanso ɛsɛ sɛ wususuw adwene mu afã no nso ho. Ebia nnipa binom bɛte nka sɛ wɔahaw kakra na wɔahaw wɔ sɔhwɛ a wɔbɛyɛ na wɔanya nea efi mu ba no ho. Na ɛntaa nsi koraa sɛ ebia wubehu sɛ ɛnyɛ sɛ woyɛ obi a ɔde yare no kɔ so nko, na mmom wowɔ yare no bi a emu nyɛ den koraa nso. Enti wo ne wo duruyɛfo nka eyinom nyinaa ho asɛm pefee ansa na woayɛ nhwehwɛmu no. Sɛ wote nka sɛ wo ho nyɛ wo dɛ wɔ nkate fam a, ntwentwɛn wo nan ase sɛ wobɛka ho asɛm akyerɛ wo duruyɛfo.
Nkrasɛm a Wɔde Kɔ Fie
- Carrier screening yɛ sɔhwɛ a ɛho hia a ɛboa wo ma wote asiane a ɛwɔ hɔ sɛ wo ba benya awosu mu yare bi ase.
- Esiane sɛ woyɛ obi a wokura yare bi nti, ɛnkyerɛ sɛ wowɔ yare no. Wowɔ apɔwmuden.
- Bere a eye sen biara a ɛsɛ sɛ woyɛ nhwehwɛmu yi ne ansa na woayɛ nhyehyɛe sɛ wubenyinsɛn.
- Sɛ wo nhwehwɛmu no mu aba yɛ ‘ɛyɛ papa’ a, ɛho hia sɛ woma wɔyɛ wo hokafo no nso nhwehwɛmu.
- Wo tebea a wubehu no bɛma woanya ahoɔden kɛse de asi gyinae a ɛfata bere a woreyɛ w’abusua ho nhyehyɛe no.
- Sɛ wowɔ nsɛmmisa anaa adwenem naayɛ bi a, wo ne wo duruyɛfo nsusuw ho pefee.
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