So wo ba no rehu amane wɔ saa tebea yi mu? Momma yɛnka Edwards Syndrome anaa Trisomy 18 ho asɛm.

Wɔ mo a mohwɛ kwan sɛ mobɛyɛ ɛna, anaasɛ mohwɛ kwan sɛ ɔmannifo foforo bɛka mo abusua ho no, eyi betumi ayɛ te sɛ nea ɛyɛ nkate kakra. Nanso, nneɛma bi wɔ hɔ a ɛtɔ da bi a yɛn ani nnye ho sɛ yɛbɛte, nanso ɛho hia paa sɛ yehu. Ɛnnɛ yɛrebɛka tebea a ɛte saa no biako ho asɛm. Ɛno ne Edwards Syndrome, a wɔsan frɛ no Trisomy 18, awosu mu yare a emu yɛ den yiye.

Dɛn ne Edwards Syndrome?

Sɛ yɛbɛka no tiawa a, Edwards Syndrome yɛ awosu mu yare a ɛka akokoaa nyin ne ne nyin kɛse . Mpɛn pii no, wɔwo nkokoaa a wɔwo wɔn a wɔwɔ saa tebea yi mu a wɔn mu duru sua. Wɔsan nso wɔ awo mu dɛmdi ahorow pii ne nipadua mu su pɔtee bi. Ɛyɛ ade a ɛfata sɛ wobɛte awerɛhow ne ehu nka bere a wote eyi no. Nanso momma yɛnka eyi ho asɛm nkɔ akyiri, ɛyɛ?

Henanom na wobetumi anya Edwards Syndrome (Trisomy 18)?

Nokwarem no, Edwards Syndrome (Trisomy 18) betumi ato obiara akokoaa . Ɛba kwa, a ɛkyerɛ sɛ wontumi nhyɛ da, bere a wohu chromosome 18 no bi foforo wɔ akokoaa no nkwammoaa mu no. Nanso wɔahu sɛ dodow a ɛna no nyin, kyerɛ sɛ, sɛ ɛna no adi boro mfe 35 bere a onyinsɛn no a, dodow no ara na asiane a ɛwɔ hɔ sɛ obenya tebea yi yɛ kɛse . Nanso kae sɛ, sɛ abofra biako wɔ saa tebea yi a, hokwan a ɛwɔ hɔ sɛ abofra a odi hɔ no benya bi no sua koraa (ennu 1%).

Edwards Syndrome (Trisomy 18) abu so dɛn?

Saa tebea yi, Edwards Syndrome (Trisomy 18) ba wɔ mmofra a wɔawo wɔn a wɔte ase bɛyɛ 5,000 kosi 6,000 biara mu biako mu . Nanso, wɔ nyinsɛn mu no, tebea no taa ba kakra, na ɛba bɛyɛ nyinsɛn 2,500 biara mu biako mu. Awerɛhosɛm ne sɛ, nsɛnnennen a ɛbata saa yare yi ho no taa ma akokoaa no yera wɔ awotwaa mu (nyinsɛn a wotu gu) anaasɛ wɔawo no a wawu .

Bere bɛn na wohuu Edwards Syndrome (Trisomy 18) no?

John Hilton Edwards ne ne kuw no na wodii kan huu saa tebea yi a wɔfrɛ no Edwards syndrome (Trisomy 18) wɔ 1960 mu. Wohuu no bere a na wɔreyɛ akokoaa bi a wɔawo no foforo a na ɔwɔ awosu mu nneɛma ahorow a ɛnteɛ ne adwene mu nkɔso ho haw ahorow ho ade no. Wɔkae sɛ tebea no fi chromosome 18 (a ɛno nti na wɔfrɛ no trisomy 18) a ɛto so abiɛsa a wɔde kaa ho no.

Dɛn ne Edwards Syndrome (Trisomy 18) ho sɛnkyerɛnne ahorow?

Wɔtaa hu akokoaa a ɔwɔ Edwards syndrome (Trisomy 18) ho sɛnkyerɛnne ansa na wɔawo no ne bere a wɔawo no akyi . Nsɛnkyerɛnne atitiriw no bi ne onyin a ɛba fam koraa, awo mu dɛmdi pii, ne nkɔso a ɛkyɛ anaasɛ adesua mu dɛmdi kɛse .

Nsɛnkyerɛnne a wohu bere a wɔyem

Wo duruyɛfo bɛhwehwɛ saa nneɛma yi bere a ɔreyɛ ultrasound scan bere a wonyinsɛn no:

• Awotwaa mu ntini kakraa bi pɛ na ɛkeka ne ho.
• Wo awotwaa mu hama no wɔ ntini biako pɛ (mpɛn pii no ɛyɛ abien).
• Awotwaa no sua koraa.
• Awo mu dɛmdi ahorow a ɛwɔ hɔ.
• Wɔfrɛ amniotic nsu a ɛboro so a atwa akokoaa no ho ahyia no ``polyhydramnios''.

Ɛwom sɛ wɔwo nkokoaa binom a wɔwɔ Edwards Syndrome no nkwa mu de, nanso mpɛn pii no wobetu nyinsɛn anaasɛ wobewuwu wɔ nyinsɛn no asram abiɛsa a edi kan no mu .

Nsɛnkyerɛnne a wohu wɔ awo akyi

Sɛ wɔwo akokoaa no wie a, akokoaa a ɔwɔ Edwards syndrome (Trisomy 18) betumi anya nipadua mu su ahorow a edidi so yi:

• Ntini mu ahoɔden a ɛso tew (hypotonia) - akokoaa no te nka sɛ ɛyɛ mmerɛw yiye.
• Earlobes de sii fam sen sɛnea ɛte daa.
• Ebia emu akwaa (te sɛ koma ne ahurututu) renhyehyɛ yiye anaasɛ wɔn dwumadi betumi asesa.
• Adwene mu nkɔso ho haw ahorow (a ɛtaa yɛ den yiye ).
• Nansoaa a wɔaboaboa ano wɔ wɔn ho wɔn ho so ne/anaasɛ nan a wɔatwe abom (`(clubfeet)`).
• Nipadua, ti, ano, ne anom sua koraa.
• Su a ɛba fam koraa ne nnyigyei a wɔyɛ no sua koraa .

Edwards yare no ho sɛnkyerɛnne a emu yɛ den (Trisomy 18) .

Esiane sɛ akokoaa a ɔwɔ Edwards Syndrome (Trisomy 18) nipadua nnyinii koraa nti, tebea yi mu nsunsuanso bɔne yɛ kɛse, na mpɛn pii no ɛde ne nkwa to asiane mu . Ebi ne:

• Komayare a wɔde awo obi ne asaabo mu yare.
• Ɔhome a ɛnyɛ ne kwan so (ɔhome a entumi nyɛ adwuma yiye).
• Ɔhaw ne awo mu dɛmdi ahorow a ɛwɔ aduan mu ntini (`(Gastrointestinal tract)`) ne yafunu fasu mu.
• Hernias (`(Akisikuru)`).
• Scoliosis a ɛma obi ho kyere no.

Susuw eyi ho: Nkokoaa a wɔwɔ Edwards Syndrome (Trisomy 18) no mu bɛyɛ 90% wɔ komayare. Eyi ne ade titiriw a ɛma nkokoaa yi wuwu ntɛm, wɔ ɔhome a entumi nyɛ adwuma yiye akyi.

Dɛn na ɛde Edwards Syndrome (Trisomy 18) ba?

Sɛ yɛbɛka no tiawa a, Edwards syndrome (Trisomy 18) fi chromosome 18 no mfonini abiɛsa a ɛwɔ hɔ sen sɛ ɛbɛyɛ abien a ɛteɛ no .

Afei, hwɛ, yɛn nyinaa wɔ chromosomes 46 wɔ yɛn nipadua mu, a wɔakyekyɛ mu abien abien 23. Yɛn DNA (akwankyerɛ a yɛn nipadua hia na ama anyin na ayɛ adwuma) na ɛwɔ saa chromosomes yi mu. Yenya saa chromosomes yi biako fi yɛn maame hɔ na biako nso fi yɛn papa hɔ.

Sɛ wɔhyehyɛ nkwammoaa a, edi kan fi ase sɛ nkwammoaa a wɔahyɛ no ma wɔ awo akwaa no mu (nkwaboaa wɔ mmarima mu, nkesua wɔ mmea mu). Saa nkwammoaa yi mu paapae (wɔ adeyɛ bi a wɔfrɛ no ``meiosis'' mu) na wɔyɛ wɔn ho mfonini de yɛ abien abien. Nkwammoaa a efi mu ba no wɔ DNA dodow a ɛte sɛ mfitiase nkwammoaa no fã, kyerɛ sɛ, nkwaboaa 46 no mu 23. Chromosomes abien biara wɔ dodow bi.

Sɛ wɔkyerɛ sɛ saa chromosome abien yi tetew bere a wɔreyɛ nkesua ne mmadwoa a, ɛtɔ mmere bi a chromosome abien biako ntumi ntetew mu yiye (te sɛ biribi a ɛyɛ nnam), na abien no nyinaa kowie nkesua anaa mmadwoa koro mu. Afei, wɔ nyinsɛn mu no, wɔde biako a efi ɔwofo foforo no hɔ no bom, na ne nyinaa yɛ abiɛsa . Saa chromosome a ɛnhyia yi yɛ nea ɛba kwa, wontumi nhu, na ɛnyɛ biribiara a awofo no yɛe ansa na wɔrenyinsɛn anaasɛ bere a wɔrenyinsɛn no na ɛde ba .

Sɛ wɔde chromosome abien bi a ɛto so abiɛsa ka ho a, wɔfrɛ no trisomy. Trisomy kyerɛ biribi te sɛ "nipadua abiɛsa." Obi a ɔwɔ Edwards Syndrome wɔ chromosome 18 a ɛto so abiɛsa wɔ wɔn nkwammoaa mu.

Ɔkwan bɛn so na wohu sɛ obi anya Edwards Syndrome (Trisomy 18)?

Mpɛn pii no, wofi ase hwehwɛ Edwards Syndrome (Trisomy 18) mu bere a wɔyem . Wɔhyɛ nea wɔahu no so dua ansa na wɔawo akokoaa no anaasɛ wɔawo no akyi. Mpɛn pii no, wo duruyɛfo no bɛyɛ ultrasound scan de ahwehwɛ Edwards Syndrome (Trisomy 18) ho sɛnkyerɛnne denam sɛnea akokoaa no keka ne ho, nsu dodow a ɛwɔ awotwaa mu, ne awotwaa no kɛse a ɔbɛhwɛ so. Sɛ wohu awosu mu tebea yi ho sɛnkyerɛnne a, wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu foforo mfa nkyerɛ sɛ wɔahu yare no.

Nhwehwɛmu bɛn na wɔde hu Edwards Syndrome (Trisomy 18)?

Wɔ nyinsɛn mu no, sɛ akokoaa no da Edwards Syndrome (Trisomy 18) ho sɛnkyerɛnne adi a, oduruyɛfo no betumi ahyɛ nyansa sɛ wɔnyɛ nhwehwɛmu ahorow de si so dua sɛ wahu yare no, te sɛ:

• Amniocentesis : Wɔ nyinsɛn no adapɛn 15 kosi 20 ntam no, wo duruyɛfo no bɛfa amniotic nsu ketewaa bi na wasɔ ahwɛ de ahu wo ba no akwahosan.
• Chorionic villus sampling (CVS) : Wɔ nyinsɛn no adapɛn 10 kosi 13 ntam no, wo duruyɛfo no fa nkwammoaa ketewaa bi fi awotwaa no mu na ɔsɔ hwɛ de hwehwɛ awosu mu tebea horow.
• Nhwehwɛmu : Wɔ nyinsɛn adapɛn 10 akyi no, wobetumi ayɛ wo mogya mu nhwehwɛmu ahwɛ sɛ ebia wo ba no wɔ chromosome tebea afoforo a ɛtaa ba, te sɛ trisomy 18 anaa.

Sɛ wɔwo akokoaa no wie a, oduruyɛfo no de ultrasound scan bɛhwɛ akokoaa no koma mu, ahu koma mu haw biara a ebia esiane saa yare yi a wɔahu no nti, na wayɛ nneɛma bi de asa.

Ɔkwan bɛn so na wɔsa Edwards Syndrome (Trisomy 18)?

Mpɛn pii no, tebea yi mu yɛ den araa ma wɔde awerɛkyekye hwɛ ma nkokoaa a wɔwo wɔn a wɔte ase.. Ɛno kyerɛ sɛ yɛbɛboa akokoaa no ma ne ho atɔ no na ɛyaw biara nni ne ho. Nanso, ɛsono sɛnea wɔde Edwards Syndrome (Trisomy 18) sa akokoaa biara, na egyina sɛnea wɔahu no denneennen so . Aduru biara nni hɔ a wɔde sa Edwards Syndrome (Trisomy 18) .

Edwards syndrome (Trisomy 18) ayaresa betumi ayɛ:

• Komayare a wɔsa : Ɛkame ayɛ sɛ nkokoaa a wɔwɔ Edwards syndrome (Trisomy 18) nyinaa nya komayare. Bere a ɛnyɛ nkokoaa nyinaa na wobetumi ayɛ wɔn oprehyɛn no, ebinom betumi ayɛ wɔn oprehyɛn.
• Aduan a wɔde ma : Nkokoaa a wɔwɔ Edwards syndrome (Trisomy 18) betumi ayɛ den sɛ wobedidi sɛnea ɛsɛ esiane sɛ wɔn nkɔso kyɛ nti. Ebia ɛho behia sɛ wɔma wɔn aduan fa afiri a wɔde ma wɔn aduan mu na aboa wɔ aduan a wɔde ma ho haw ahorow ho wɔ wɔn nkwa nna mfiase.
• Nnompe mu ayaresa : Nkokoaa a wɔwɔ Edwards syndrome (Trisomy 18) no betumi anya akyi haw te sɛ scoliosis. Eyinom betumi aka sɛnea akokoaa no keka ne ho. Ebia nnompe a wɔde sa yare no bi ne nnompe a wɔde hyɛ nipadua no mu anaa oprehyɛn.
• Adwene ne asetra mu mmoa : Sɛ wobɛwo akokoaa a ɔwɔ Edwards Syndrome (Trisomy 18) a, ɛhwehwɛ sɛ woboa wo, w’abusua, ne wo ba. Wubehia mmoa na ama woatumi agyina awerɛhow a wo ba a woahwere no ano, titiriw sɛ woahwere wo ba a, anaasɛ woatumi agyina wo ba no yare a ɛyɛ den a wohu no ano.

Mɛyɛ dɛn atumi atew asiane a ɛwɔ hɔ sɛ me ba no benya Edwards Syndrome (Trisomy 18) no so?

Esiane sɛ Edwards yare (Trisomy 18) fi awosu mu nsakrae ankasa nti, ɔkwan biara nni hɔ a wɔbɛfa so asiw tebea yi ano . Nanso, sɛ wofata sɛ wɔyɛ awosu mu nhwehwɛmu ne awosu mu nhwehwɛmu (awosu mu nhwehwɛmu ansa na wɔde ahyɛ nipadua mu) denam in vitro fertilization (IVF) so a, wubetumi atew hokwan a ɛwɔ hɔ sɛ wobɛwo akokoaa a ɔwɔ Edwards syndrome (Trisomy 18) no so kɛse. Sɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn a, wo ne wo duruyɛfo nka awosu mu afotu ho asɛm na woasua asiane a ɛwɔ akokoaa a ɔwɔ awosu mu tebea no mu.

Sɛ wowɔ abofra a ɔwɔ Edwards Syndrome (Trisomy 18) a, dɛn na ɛba?

Aduru biara nni hɔ a wɔde sa Edwards Syndrome (Trisomy 18). Nyinsɛn dodow no ara ba awiei wɔ nyinsɛn a wotu gu anaasɛ awo a wɔawuwu mu . Wɔ nyinsɛn a ɛtra ase kosi ɔsram abiɛsa a ɛto so abiɛsa mu no, nkokoaa a wɔwɔ Edwards Syndrome (Trisomy 18) no mu bɛyɛ 40% nnya nkwa wɔ awo mu, na wɔn a wonya nkwa no mu bɛyɛ nkyem abiɛsa mu biako na wɔwo wɔn ntɛm.

Nkokoaa a wɔwo wɔn a wɔwɔ Edwards Syndrome (Trisomy 18) no nkwa nna te sɛ nea edidi so yi:

• 60% kosi 75% na wonya nkwa dapɛn a edi kan no.
• Wɔn mu 20% kosi 40% na wonya nkwa wɔ ɔsram a edi kan no mu.
• Bɛboro 10% nni wɔn awoda a edi kan.

Nkokoaa a wɔwo wɔn a wɔwɔ Edwards Syndrome (Trisomy 18) no hia ɔhwɛ titiriw bi wɔ awo akyi pɛɛ, a wɔayɛ no sɛnea wɔn sɛnkyerɛnne pɔtee no te.. Hokwan a ɛwɔ hɔ sɛ obenya nkwa no sua koraa, titiriw sɛ akokoaa no akwaa akyɛ anaasɛ ɔwɔ koma mu dɛmdi bi a wɔde woo no a. Wɔ 10% a wonya nkwa wɔ wɔn awoda a edi kan no mu no, mmofra binom tra ase a abotɔyam wom a wɔn abusua ne wɔn a wɔhwɛ wɔn no boa wɔn kɛse. Nanso mpɛn pii no wonsua nantew anaa kasa da.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ akokoaa a ɔwɔ Edwards syndrome (Trisomy 18) wɔ awotwaa mu a, asiane wɔ hɔ sɛ nyinsɛn betumi atu anaasɛ wanyinsɛn. Sɛ woanyinsɛn a, kɔ oduruyɛfo nkyɛn ntɛm ara sɛ wowɔ nyinsɛn a woatu ho sɛnkyerɛnne a :

• Yafunu mu yaw.
• Sɛ wote nka sɛ awɔw wom na wo ho yɛ wo hyew a.
• Akyi yaw.
• Sɛ mogya retu wo kɛse sen sɛnea ɛte daa a (mogya a ɛretu wo kɛse).
• Yafunu ase yaw.

Bere bɛn na ɛsɛ sɛ mekɔ baabi a wɔhwɛ wɔn a egye ntɛmpɛ?

Sɛ wo ba a wɔwoo no a ɔwɔ Edwards Syndrome (Trisomy 18) no wɔ saa sɛnkyerɛnne yi bi a, fa no kɔ baabi a wɔhwɛ wɔn a wɔwɔ yare a egye ntɛmpɛ ntɛm ara, anaa frɛ 1990 :

• Sɛ worehome ntɛmntɛm dodo anaasɛ worehome brɛoo dodo, anaasɛ worehome koraa a.
• Sɛ honam ani anaa anofafa no dan bruu anaa kɔkɔɔ a.
• Sɛ koma no bɔ ntɛmntɛm paa a.
• Sɛ ɛyɛ den sɛ wobedi a.
• Sɛ nipadua no nyinaa ahonhon a.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Wɔ saa tebea yi mu no, ebia wubenya nsɛmmisa pii. Bisa wo duruyɛfo no nneɛma te sɛ:

• "Asiane bɛn na ɛwɔ me mu sɛ mɛwo abofra a ɔwɔ awosu mu tebea bi?"
• "Ayaresa bɛn na wobetumi de ama me ba no yare no ho sɛnkyerɛnne?"
• "Dɛn na metumi ayɛ de ahwɛ ahu sɛ me ba no wɔ apɔwmuden bere a ɔyem?"

Edwards Syndrome (Trisomy 18) a wobehu no betumi ayɛ nea ɛyɛ den yiye. Nsɛnnennen a ɛba saa tebea yi mu no betumi ayɛ nea ɛboro so. Wo duruyɛfo bɛboa wo ne w’abusua wɔ akwantu yi mu , sɛ́ ɛyɛ wo ba no yare a wɔahu ho dwuma anaasɛ wo ba a wahwere no a wubegyina ano no. Sɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn a, wo ne wo duruyɛfo nka awosu mu afotu ho asɛm na woahu asiane a ɛwɔ hɔ sɛ wobɛwo akokoaa a ɔwɔ awosu mu yare bi.

Nneɛma a ɛho hia sen biara a ɛsɛ sɛ wokae (Take-Home Message) .

Okay, enti, ma menbɔ nneɛma a yɛaka ho asɛm a misusuw sɛ ɛho hia wo no bi mua:

• Edwards Syndrome, anaa Trisomy 18, yɛ awosu mu yare a emu yɛ den .
• Eyi fi chromosome 18 no bi a ɛka ho. Eyi yɛ nea ɛbae ara kwa, ɛnyɛ awofo no mfomso.
• Wobetumi ahu eyi denam scan ne nhwehwɛmu titiriw afoforo (`(Amniocentesis)`, `(CVS)`) a wɔyɛ bere a wɔyem no so.
• Saa tebea yi ano aduru biara nni hɔ , ayaresa no atirimpɔw ne sɛ wobedi sɛnkyerɛnne ahorow so na ama akokoaa no ho atɔ no.
• Nkokoaa pii ntra ase nkyɛ , nanso mmofra binom nam wɔn mmusua dɔ ne mmoa so tra ase.
• Sɛ woanyinsɛn naSɛ woreda nyinsɛn a atu agu ho sɛnkyerɛnne adi a, hwehwɛ aduruyɛfo afotu ntɛm ara.
• Sɛ wɔahu sɛ wowɔ saa tebea yi a, ɛnyɛ wo nkutoo na wowɔ . Nya mmoa fi nnuruyɛfo, abusua, ne afotu adwumayɛbea ahorow hɔ.

Mewɔ anidaso sɛ saa nsɛm yi bɛboa wo. Ɛyɛ den sɛ wobɛka nsɛmti a ɛyɛ nkate a ɛte saa ho asɛm, nanso ɛfata sɛ wohu.

` Edwards Syndrome, Trisomy 18, Awosu mu Nyarewa, Chromosomes, Nyinsɛn, Nkokoaa Akwahosan, Awo mu Mfomso