Biribiara a ɛfa Prenatal Genetic Testing ho wɔ nsɛm a ɛnyɛ den mu

So woyɛ ɛna a wobɛware? Afei w’apɛde kɛse ne sɛ wobɛwo akokoaa a ɔwɔ apɔwmuden. Ebia wunim mogya mu nhwehwɛmu ne scan a wɔyɛ wɔ nyinsɛn mu de hwɛ hu sɛ wo ne wo ba no akwahosan ho asɛm dedaw. Nanso so woate nhwehwɛmu soronko bi a ebetumi adi kan ahu sɛ ebia wo ba a ɔhyɛ yafunu mu no wɔ awosu mu yare anaa awo mu dɛmdi bi ho asɛm? Ɛnnɛ yɛreka saa asɛmti a ɛho hia paa yi a nnipa pii wɔ nsɛmmisa wɔ ho, a ɛne Prenatal Genetic Testing ho asɛm.

Sɛ yɛbɛka no tiawa a, dɛn ne awosu mu nhwehwɛmu yi?

Nea ɛbɛyɛ na yɛate eyi ase no, ma yenni kan nhwɛ nea awosu mu nkwaadɔm ne nkwaboaa ahorow yɛ. Susuw yɛn nipadua ho sɛ ɔdan kɛse. Awosu mu nkwaadɔm ne nhyehyɛe a edi mũ, anaa akwankyerɛ ahorow a wɔahyehyɛ, a wɔde besi saa ɔdan no. Chromosomes te sɛ nhoma akɛse a ɛkura saa awosu mu nkwaadɔm yi nnidiso nnidiso. Sɛ abofra nyin a, saa "nhoma" yi mu fã nya fi ne maame hɔ na fã a aka no fi wɔn papa hɔ.

Enti, ɛtɔ da bi a, sintɔ, mfomsoɔ, anaa nsakraeɛ bi bɛtumi aba wɔ akwankyerɛ yi mu, anaa saa "nhoma" yi mu. Ɛno ne bere a ebia abofra bi wɔ awosu mu tebea anaa awo mu dɛmdi bi. Enti, Prenatal Genetic Testing yɛ ɔkwan a wɔfa so sɔ abofra no hwɛ ansa na wɔrewo, wɔ nyinsɛn mu, de hwɛ sɛ abofra no wɔ ɔhaw bi a ɛte saa anaa.

Sɔhwɛ ahorow titiriw abien na ɛwɔ hɔ: momma yɛnte nsonsonoe no ase

Wobetumi akyekyɛ awosu mu nhwehwɛmu ahorow yi mu akuw atitiriw abien. Ɛho hia paa sɛ yɛte nsonsonoe pɔtee a ɛda abien no ntam no ase.

1. Screening Tests: Eyinom yɛ sɔhwɛ ahorow a ɛkyerɛ asiane.

2. Nhwehwɛmu a Wɔde Hu: Eyinom yɛ nhwehwɛmu a ɛkyerɛ sɛnea yare no te.

Fa no sɛ wim tebea ho nkɔmhyɛ. Screening test ka sɛ, "Ɛwɔ hokwan sɛ osu bɛtɔ nnɛ 70%." Ɛka kɛkɛ sɛ hokwan kɛse wɔ hɔ sɛ osu bɛtɔ, ɛnyɛ sɛ akyinnye biara nni ho sɛ osu bɛtɔ. Nhwehwɛmu a wɔde hu yare no te sɛ nea wɔde ahotoso si so dua sɛ "osu retɔ mprempren."

Yebetumi ate saa nsonsonoe yi ase yiye afi pon a ɛwɔ ase ha no so.

Dɛn ne nhwehwɛmu a wɔtaa de yɛ nhwehwɛmu a wɔde hwehwɛ nipadua mu?

Nhwehwɛmu ahorow pii wɔ hɔ a wɔde hwehwɛ nneɛma mu. Wo duruyɛfo bɛkamfo nea ɛfata wo kɛse no akyerɛ wo.

1. Awofo awosu mu nhwehwɛmu (Carrier Screening) .

Eyi yɛ sɔhwɛ a ɛho hia yiye. Wɔnyɛ eyi mma abofra no, na mmom ɛna ne agya no. Awosu mu nyarewa bi wɔ hɔ, na ɛwom mpo sɛ yɛwɔ awosu mu abɔde a ɛde saa yare no ba yɛn nipadua mu de, nanso yɛnkyerɛ saa yare no ho sɛnkyerɛnne. Wɔfrɛ yɛn ‘ɔsoafo’ . Fa no sɛ woyɛ obi a ɔwɔ yareɛ pɔtee bi, na wo kunu nso yɛ obi a ɔwɔ yareɛ korɔ no ara, sɛ mpo mo mmienu nyinaa nni sɛnkyerɛnne biara a, asiane 25% wɔ hɔ sɛ wɔbɛwo abofra no a ɔwɔ saa yareɛ no. Thalassemia, yare a abu so wɔ Sri Lanka no yɛ eyi ho nhwɛso pa.

• Wɔde mogya mu nhwehwɛmu a ɛnyɛ den na ɛyɛ eyi.
• Mpɛn pii no, wodi kan sɔ ɛna no hwɛ. Sɛ wohu sɛ ɛna no yɛ obi a ɔsoa a, wɔsɔ agya no nso hwɛ.
• Ɛsɛ sɛ wɔyɛ sɔhwɛ yi pɛnkoro wɔ nkwa nna mu .

2. Sɔhwɛ ahorow a wɔde hwehwɛ sɛ akokoaa no nkwaboaa mu nneɛma a ɛnteɛ

Nkwammoaa biara a ɛwɔ yɛn nipadua mu no wɔ nkwaboaa abien abien 23, na ne nyinaa yɛ 46. Ɛtɔ mmere bi a, sɛ wonyinsɛn akokoaa a, saa nkwaboaa yi dodow tumi sesa. Sɛ nhwɛso no, sɛ chromosome 21 no mu abiɛsa na ɛwɔ hɔ sen sɛ ɛbɛyɛ abien a, ebetumi de Down syndrome aba.Sɔhwɛ ahorow pii wɔ hɔ a wɔyɛ de hwɛ asiane a ɛwɔ tebea horow a ɛtete saa mu.

• Cell-free fetal DNA screening (NIPT): Eyi yɛ Sinhala asɛmfua a ɛkyerɛ ‘Non-Invasive Prenatal Testing’. Eyi yɛ mfiridwuma a ɛkɔ anim yiye. Sɛ wunyinsɛn a, DNA asinasin a efi wo ba no mu kakraa bi pɛ na ɛsensɛn wo mogya mu. Saa nhwehwɛmu yi de mogya a ɛnyɛ den a wogye fi wo nsam di dwuma de tetew wo ba no DNA asinasin no mu na wɔhwɛ sɛ asiane a ɛwɔ hɔ sɛ obenya nkwaadɔm mu nneɛma a ɛtaa ba te sɛ Down syndrome. Wobetumi ayɛ eyi wɔ nyinsɛn adapɛn 10 akyi .
• Serum Screening: Eyi nso yɛ nhwehwɛmu a wɔyɛ wɔ ɛna no mogya ho. Nanso, eyi nhwɛ akokoaa no DNA, na mmom ɛhwɛ protein ahorow bi a ɛwɔ ɛna no mogya mu. Wogyina protein dodow yi so bu asiane a ɛwɔ hɔ sɛ akokoaa no benya awosu mu yare bi ho akontaa. Quad Screen yɛ sɔhwɛ a ɛte sɛɛ ho nhwɛso. Ɛsɛ sɛ wɔyɛ eyinom wɔ adapɛn pɔtee bi mu wɔ nyinsɛn mu.

3. Sɔhwɛ ahorow a wɔde hwɛ sɛ nipadua mu nneɛma bi a ɛnteɛ wɔ abofra no nipadua mu anaa

Wɔtaa fa ultrasound scan so na ɛyɛ eyinom.

• Nuchal Translucency (NT) Scan: Eyi yɛ scan titiriw a wɔyɛ wɔ nyinsɛn no adapɛn 11 kosi 14 ntam . Ɛsusuw nsu a ɛwɔ honam ani a ɛwɔ akokoaa no kɔn akyi no mu duru. Sɛ saa duru yi dɔɔso sen sɛnea ɛte daa a, ebetumi ayɛ sɛnkyerɛnne a ɛkyerɛ sɛ nkwaboaa mu nkwaadɔm a ɛnyɛ ne kwan so te sɛ Down syndrome, anaasɛ ɔhaw bi a ɛwɔ akokoaa no koma mu.
• AFP Screening (Maternal Serum Screen): Eyi yɛ mogya mu nhwehwɛmu a wɔyɛ wɔ adapɛn 15-22 ntam. Sɛ protein bi a wɔfrɛ no AFP dodow kɔ soro wɔ ɛna no mogya mu a, ebetumi akyerɛ sɛ ɔhaw bi wɔ akokoaa no akyi berɛmo (neural tube defects) anaa ne yafunu mu.
• Fetal Anatomy Scan (Anomaly Scan): Eyi yɛ scan a ɛnanom pii nim. Wɔ saa nhwehwɛmu kɛse yi a wɔyɛ no adapɛn 18 kosi 20 ntam no mu no, oduruyɛfo no hwehwɛ akokoaa no akwaa biara mu yiye, efi ne ti kosi ne nan ase, a amemene, koma, asaabo, akyi berɛmo, ne nsa ne n’anim ka ho.

Nhwehwɛmu a wɔde hu yare no a ɛkyerɛ sɛ yare no wɔ hɔ

Sɛ nea efi nhwehwɛmu a wɔde hwehwɛ nneɛma mu ba no nyɛ nea ɛfata, anaasɛ asiane kɛse wɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu yare bi (e.g., woadi boro mfe 35, abusua abakɔsɛm) a, wo duruyɛfo betumi akamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu a wɔde hu yare no.

Saa nhwehwɛmu ahorow yi yɛ pɛpɛɛpɛ yiye efisɛ wɔfa akokoaa no ankasa nkwammoaa mu nhwɛso. Nanso, ɛnyɛ mmerɛw te sɛ nhwehwɛmu a wɔyɛ de hwehwɛ nneɛma mu. Wobu wɔn sɛ sɔhwɛ ahorow a ‘ɛhyɛn mu’, .Asiane a ɛwɔ hɔ sɛ nyinsɛn a ɛbɛtu no sua koraa (0.1% - 0.5%).

Nhwehwɛmu atitiriw abien na ɛwɔ hɔ a wɔde hu yare no:

1. Amniocentesis: Wɔtaa yɛ eyi wɔ nyinsɛn no adapɛn 16 kosi 20 ntam . Wɔ sɔhwɛ yi mu no, oduruyɛfo no, wɔ scanner akwankyerɛ ase, de ade a ɛyɛ tratraa paa fa wo yafunu mu hyɛ wo awotwaa mu na oyi awotwaa mu nsu kakraa bi a atwa akokoaa no ho ahyia no fi hɔ. Saa nsu yi na akokoaa no nkwammoaa wɔ.

2. Chorionic Villus Sampling (CVS): Wɔtaa yɛ eyi ntɛm kakra, wɔ nyinsɛn no adapɛn 11 kosi 13 ntam . Ɛha yi, wɔde ade bi fa yafunu anaa ɔbea no awotwaa mu na woyi ntini ketewaa bi fi awotwaa no mu. Nkwammoaa a ɛwɔ awotwaa no mu no ne akokoaa no nkwammoaa yɛ pɛ wɔ awosu mu.

Ɛdenam saa nhwɛsode ahorow yi a wɔde bɛkɔ aduruyɛdan mu akɔyɛ nhwehwɛmu so no, wobetumi de awerɛhyem ahu sɛ ebia abofra no wɔ nkwaboaa mu nkwaadɔm mu nneɛma bi a ɛnteɛ anaa.

So ɛho hia sɛ wɔyɛ sɔhwɛ ahorow yi? Hena na ɔho hia wɔn paa?

Dabi, ɛnyɛ ahyɛde sɛ wɔbɛyɛ sɔhwɛ ahorow yi. Eyi yɛ wo ne w’abusua ankasa gyinaesi koraa. Ansa na wubesi saa gyinae no, ɛsɛ sɛ wususuw wo gyidi, gyinapɛn ahorow, ne daakye nhyehyɛe ahorow ho.

Awofo binom pɛ sɛ wohu ayaresa tebea bi ho asɛm ansa na wɔawo wɔn ba. Saa kwan no so no, wonya bere de di kan yɛ nhyehyɛe, sua ho ade, na wɔde wɔn adwene siesie wɔn ho ma ɔhwɛ ne ayaresa titiriw a abofra no behia.

Afei nso, ɛtɔ mmere bi a nea efi mu ba no betumi ayɛ abasamtu kɛse, na wɔhyɛ awofo binom ma wosi gyinae a emu yɛ den yiye, te sɛ sɛ ebia wɔbɛtoa nyinsɛn no so anaasɛ wɔrentoa so.

Mpɛn pii no, wɔde adwene si sɔhwɛ ahorow yi so kɛse wɔ tebea horow a edidi so yi mu:

• Sɛ nea efii nhwehwɛmu sɔhwɛ a atwam mu bae no yɛ ‘asiane kɛse’ a.
• Sɛ obi a ɔwɔ wo anaa wo kunu abusua mu wɔ awosu mu yare bi a.
• Sɛ ɛna no adi boro mfe 35 (efisɛ asiane a ɛwɔ hɔ sɛ obenya awosu mu nyarewa bi no kɔ soro bere a obi nyin no).
• Sɛ woadi kan atu nyinsɛn anaasɛ woawo a wɔawuwu a.

Nsɛmmisa a ɛho hia a ɛsɛ sɛ wubisa wo duruyɛfo

Ansa na wubesi eyi ho gyinae no, bisa wo duruyɛfo no nsɛmmisa a ɛwɔ w’adwenem nyinaa na ma emu nna hɔ. Mma biribiara nntra w’adwenem.

• "Sɛ yɛhwɛ mfe a madi ne m'aduruyɛ ho abakɔsɛm a, nhwehwɛmu bɛn na eye ma me?"
• "Sɛ nea efi screening test mu ba no nyɛ nea ɛfata a, dɛn na yɛbɛyɛ akyi?"
• "Asiane bɛn na ɛwɔ mu ma akokoaa no anaa me sɛ meyɛ nhwehwɛmu a ɛkyerɛ sɛnea obi hu yare a?"
• "Dɛn ne nea ebetumi aba sɛ atoro a ɛyɛ papa wɔ nhwehwɛmu ahorow yi mu?"
• "Bere tenten ahe na egye ansa na woanya nea efi mu ba?"
• "So sɔhwɛ te sɛ NIPT nso betumi ahu akokoaa no bɔbeasu?" (Yiw, NIPT sɔhwɛ ne ebia Anomaly scan nso betumi ahu akokoaa no bɔbeasu.)