So wo ba no awosu mu nneɛma ho asɛm haw wo kakra? Momma yɛnka Trisomy ho asɛm!

Ebia woate asɛmfua "Trisomy" anaasɛ ebia wo duruyɛfo no aka ho asɛm. Ɛyɛ ade a ɛfata sɛ wobɛte ehu nka kakra na wopɛ sɛ wuhu bere a wote eyi no. Dɛn ne trisomy? Dɛn nti na ɛba saa? Ɛbɛka akokoaa no dɛn? Momma yɛnka ne nyinaa ho asɛm wɔ ɔkwan a ɛyɛ mmerɛw a wubetumi ate ase so.

Dɛn ne Trisomy? Sɛ yɛbɛka no tiawa a...

Fa no sɛ nkwammoaa nketenkete ɔpepem pii na ɛka bom yɛ yɛn nipadua no. Wɔ nkwammoaa biara mu no, beae bi te sɛ saa nkwammoaa no sohwɛbea, a yɛfrɛ no nucleus . Saa nuklea no mu no, nneɛma a wɔfrɛ no `Chromosomes` wɔ hɔ. Eyinom te sɛ nhoma. Wɔakyerɛw biribiara a ɛfa yɛn nipadua ho, su biara a ɛma yɛyɛ soronko wɔ afoforo ho (te sɛ ne tenten, kɔla, ti nhwi kɔla, aniwa kɔla) wɔ nhoma ahorow yi a wɔfrɛ no chromosomes mu. Saa nsɛm yi ne nea yɛfrɛ no `DNA` .

Mpɛn pii no, nkwammoaa biara a ɛwɔ onipa a ɔwɔ apɔwmuden mu no wɔ saa nkwaboaa ahorow yi abien abien 23. Ɛno yɛ chromosomes a ne nyinaa yɛ 46. Eyinom mu fã, 23, fi yɛn maame hɔ, na fã a aka, 23, fi yɛn papa hɔ.

Afei, nea trisomy kyerɛ ni: Ɛtɔ mmere bi a, wɔ saa chromosome abien no biako akyi no, wɔde chromosome foforo ka ho. Afei chromosomes dodow no nyinaa bɛyɛ 47 sen sɛ ɛbɛyɛ 46. "Tri" kyerɛ abiɛsa, na "somy" kyerɛ biribi te sɛ nipadua. Enti, trisomy yɛ chromosome abiɛsa a wobenya wɔ baabi a ɛsɛ sɛ abien wɔ hɔ ara kwa.

, (`miscarriage`) .

Dɛn ne trisomy ahorow atitiriw?

Nnuruyɛfo gyina chromosome abien a chromosome a ɛboro so no wom so hu saa trisomy tebea yi.Esiane sɛ chromosome abien biara wɔ dwuma pɔtee bi di wɔ yɛn nipadua mu nti, akokoaa no awosu mu tebea bɛsono a egyina baabi a wɔde chromosome a ɛboro so no ka ho so.

Trisomy tebea horow a ɛtaa ba ne:

• Trisomy 21 : Eyi ne tebea a yɛn nyinaa nim no sɛ Down syndrome . Chromosome foforo bi wɔ chromosome abien a ɛto so 21 no mu.
• Trisomy 18 : Wɔsan frɛ eyi Edward syndrome .
• Trisomy 13 : Wɔfrɛ eyi Patau syndrome .

Saa ara na chromosomes abien a ɛto so 23 a ɛwɔ yɛn awosu mu nneɛma mu no na ɛkyerɛ yɛn bɔbeasu. Wɔfrɛ eyinom `XX` ma ɔbea ne `XY` ma ɔbarima. Sɛ nkwammoaa mu paapae a, nneɛma a ɛnteɛ wɔ ɔbarima ne ɔbea nna mu nkwaadɔm yi mu nso betumi aba, na ɛde trisomies aba. Eyinom ho nhwɛso ne:

• Trisomy X (`Trisomy X` anaa `XXX`) .
• Klinefelter yare (`Klinefelter yare` anaa `XXY`) .
• Yakob yare (`Jacob yare` anaa `XYY`) .

Hena na ɛda adi sɛ trisomy tebea yi bɛka no kɛse?

Nokwarem no, trisomy betumi aba wɔ nyinsɛn no fã biara mu. Nanso wɔahu sɛ asiane no yɛ kɛse kakra bere a mmea a wɔadi boro mfe 35 nyinsɛn no . Nanso, nea ɛyɛ nwonwa no, awofo a wonnii mfe 35 na wɔwo nkokoaa dodow no ara a wɔde trisomy wo wɔn.

Ade a ɛho hia sen biara: Trisomy nyɛ biribi a ɛna anaa agya no mfomso na ɛba. Ɛyɛ awosu mu nsakrae a ɛba kwa.

Trisomy abu so dɛn?

Trisomy a ɛtaa ba ne trisomy 21, anaa Down syndrome. Sɛ nhwɛso no, wɔ United States nkutoo no, afe biara wɔwo nkokoaa bɛyɛ 6,000 a wɔwɔ Down syndrome. Ɛno yɛ bɛyɛ nkokoaa 700 biara mu biako.

Dɛn ne trisomy ho sɛnkyerɛnne ahorow bere a wɔyem?

Bere a wo nyinsɛn ultrasound scan , wo duruyɛfo bɛhwehwɛ trisomy ho sɛnkyerɛnne ahorow. Nsɛnkyerɛnne no bi ne:

• Nsu dodow a atwa akokoaa no ho ahyia (amniotic fluid) no sua koraa.
• Akokoaa no awotwaa mu hama no wɔ ntini biako pɛ sen sɛ anka ntini dodow a wɔtaa yɛ no.
• Placenta a ɛyɛ ketewaa sen sɛnea ɛte daa.
• Ɛte sɛ nea akokoaa no kankan (squirming) no sua.
• Akokoaa no te sɛ nea ɔyɛ ketewaa sen ne mfe ankasa.
• Nipadua mu nneɛma bi a ɛnteɛ, sɛ nhwɛso no, koma mu haw ahorow bi anaasɛ anom a ɛpaapae.

Dɛn ne sɛnkyerɛnne ahorow a ɛda adi wɔ akokoaa no awo akyi?

Nsɛnkyerɛnne a akokoaa betumi anya no betumi ayɛ soronko a egyina trisomy ko a ɔwɔ so. Nsɛnkyerɛnne a ɛtaa ba no bi ne:

• Sɛ obi yɛ tiaa sen sɛnea ɔtaa yɛ (n’akyi yɛ tiaa).
• Anim kurukuruwa ne anim a ɛyɛ tratraa.
• Aniwa a wɔde hwɛ ade a ɛyɛ mmerɛw.
• Anom a ɛpaapae.
• Ebia emu akwaa (te sɛ koma, ahurututu, asaabo) renhyehyɛ yiye anaasɛ ebetumi anya ɔhaw wɔ wɔn dwumadi mu.
• Nkɔso a ɛkyɛ ne adwene mu dɛmdi.

Dɛn nti na saa trisomy yi ba? Nyansahu mu nkyerɛkyerɛmu a ɛyɛ nwonwa yiye...

Wɔyɛ chromosome ahorow a ɛwɔ yɛn nipadua mu no nnidiso nnidiso pɔtee bi. Saa nkwammoaa a ɛtoatoa so yi te sɛ "blueprint" a ɛkyerɛ onipa ko a yɛyɛ. Sɛ wɔyɛ awo akwaa no nkwammoaa (nkwaboaa a ɛwɔ mmarima mu, nkesua wɔ mmea mu) a, wɔde nkwammoaa biako a wɔahyɛ no ma na efi ase. Afei saa nkwammoaa yi fa adeyɛ bi a wɔfrɛ no meiosis mu . Ɛha na nkwammoaa biako mu paapae mprenu, na ɛma nkwammoaa anan ba. Nkwammoaa foforo biara wɔ DNA dodow a ɛwɔ mfitiase nkwammoaa no mu fã, anaasɛ chromosomes 23.

Eyi ne adeyɛ a ɛma nkwammoaa mu paapae (meiosis)., Ɛtɔ mmere bi a, nkwammoaa tumi mu paapae wɔ ɔkwan a ɛnteɛ so. Sɛ ɛba saa a, nkwammoaa bi foforo ba na ɛka nkwaboaa abien bi ho. Mpɛn pii no, ɛsɛ sɛ nkwaboaa abien na ɛwɔ abien biara mu. Nanso ɛha no, chromosome a ɛto so abiɛsa na ɛba na ɛka saa baanu no bom. Wɔfrɛ ɛno sɛ trisomy.

Trisomy ba bere a wɔreyɛ awo no . Eyi yɛ adeyɛ a ɛba kwa, ɛnyɛ biribiara a ɛna no yɛe bere a na ɔyem no na ɛde bae. Nanso sɛnea yɛadi kan aka no, asiane no dɔɔso kakra ma wɔn a wonyinsɛn bere a wɔadi mfe 35 akyi no.

Ɔkwan bɛn so na wohu sɛ obi anya trisomy?

Awosu mu nhwehwɛmu a wɔyɛ bere a wɔyem no betumi ama wɔanya nsɛm a ɛkyerɛ sɛ trisomy wɔ hɔ. Sɛ wɔwo akokoaa no wie a, wɔde nipadua mu nhwehwɛmu ne awosu mu nkwaadɔm mu nhwehwɛmu foforo a wɔde mogya a efi akokoaa no mu di dwuma so si tebea no so dua.

Nhwehwɛmu bɛn na wɔde hu sɛ obi anya trisomy?

Wɔ nyinsɛn mu no, ɛda adi sɛ wo duruyɛfo bɛkra sɛ wɔmfa mogya mfi wo maame hɔ na wɔnyɛ scan. Sɛnea yɛadi kan aka no, scan no bɛhwehwɛ nneɛma te sɛ nsu a ɛboro so a atwa akokoaa no ho ahyia, nuchal lucency , ne akokoaa no akwaa tenten. Eyinom betumi ayɛ awosu mu ade a ɛnteɛ ho sɛnkyerɛnne.

Wɔ sɔhwɛ atitiriw yi akyi no, sɔhwɛ pɔtee bi wɔ hɔ a wɔde si tebea no so dua:

• Chorionic villus sampling (CVS): Wɔ nyinsɛn no adapɛn 10 kosi 13 ntam no, wogye nkwammoaa kakraa bi fi awotwaa no mu de sɔ awosu mu tebea horow ne akokoaa no bɔbeasu hwɛ.
• (`Amniocentesis`): 15 20 , (`amniotic fluid`) ‍ .
• Percutaneous umbilical blood sampling (PUBS): Woyi mogya ketewaa bi fi akokoaa no awotwaa mu hama mu de hwɛ sɛnea akokoaa no te.
• Non-invasive prenatal testing (NIPT): Wɔ nyinsɛn no adapɛn 10 akyi no, wɔhwehwɛ mogya a efi ɛna no mu hwɛ sɛ ebia akokoaa no wɔ awosu mu nneɛma bi a ɛnteɛ anaa.

Ɔkwan bɛn so na wɔsa trisomy tebea horow?

Trisomy yɛ tebea a ɛma obi nya nkwa nna nyinaa. Enti, ɛho hia sɛ wɔde bere tenten sa yare na ama sɛnkyerɛnne ahorow a ɛbata tebea yi ho no afi hɔ. Ayaresa a wɔde sa mmofra a wɔwo wɔn a wɔwɔ trisomy no bi ne:

• Oprehyɛn a wɔyɛ de siesie nipadua mu nneɛma a ɛnteɛ.
• Nhomasua mu mmoa a wɔde bɛma .
• Ɔkasa, suban ne nipadua mu ayaresa .
• Nnuru a wɔde siw aduruyɛ mu tebea afoforo a ebetumi aba bere kɔ so no ho sɛnkyerɛnne so.

So ɔkwan bi wɔ hɔ a wɔbɛfa so atew asiane a ɛwɔ hɔ sɛ obi benya trisomy no so?

Nokwarem no, wontumi nsiw awosu mu tebea horow te sɛ trisomy ano. Esiane sɛ nkwaboaa mu sintɔ no ba kwa bere a nkwammoaa mu mpaapaemu nti, wubetumi atew asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu tebea bi so denam nea edidi so yi a wobɛyɛ so:

• Asiane a ɛwɔ nyinsɛn mu sɛ woadi boro mfe 35 a wobɛte ase.
• Awosu mu nhwehwɛmu ansa na wɔanyinsɛn.
• Kwati a wobɛkwati sɛ wobɛnom tawa nneɛma ne nsa.
• Hwɛ w’akwahosan so denam aduan a ɛkari pɛ a wubedi ne apɔw-mu-teɛteɛ a wobɛyɛ daa no so.

Ɔkwan bɛn so na saa trisomy yi bɛka me ba no?

Esiane sɛ chromosome a ɛboro so no sesa akokoaa no "blueprint" nti, ebetumi ama wanya awo mu dɛmdi ( te sɛ anim a ɛda nsow) ne adwene mu dɛmdi. Mmofra pii a wɔwo wɔn a wɔwɔ trisomy 12 no benya akwahosan ho haw afoforo (te sɛ aso mu yare a wɔtaa nya, komayare, ne nna mu ahomegye) bere a wɔahu tebea no akyi. Nanso, sɛ wo ba no yare no yiye a, obetumi atra ase anigye ne abotɔyam .

Nanso, nkokoaa a wɔwo wɔn a wɔwɔ tebea horow te sɛ Trisomy 18 anaa Trisomy 13 no wɔ hokwan a ɛba fam sɛ wɔbɛtra ase asen wɔn nkwa nna adapɛn kakraa a edi kan (akokoaa bere) esiane sɛnea tebea no mu yɛ den (titiriw akwaa nyin a ɛkyɛ anaasɛ ɛnyɛ ne kwan so) nti. Wo duruyɛfo bɛhwɛ wo ba no akwahosan na wama no ayaresa na ama hokwan a ɛwɔ hɔ sɛ nkokoaa a wɔwo wɔn a wɔwɔ saa tebea horow yi bɛtra ase no ayɛ kɛse.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Trisomy mu nsunsuanso biako ne asiane a ɛwɔ hɔ sɛ nyinsɛn betumi atu . Eyi taa ba wɔ nyinsɛn no asram abiɛsa a edi kan no mu. Sɛ wowɔ nyinsɛn a wotu gu ho sɛnkyerɛnne no bi (a wɔabobɔ din wɔ ase hɔ) a, kɔ wo duruyɛfo nkyɛn ntɛm ara:

• Yafunu ase yaw, akisikuru.
• Akyi ase yaw.
• Yafunu mu yaw.
• Mogya a ɛtɔ kakra anaa emu yɛ duru.
• Atiridiinini ne atiridiinini a obi nya.

Nsɛmmisa a ɛho hia bɛn na ɛsɛ sɛ wobisa oduruyɛfo no?

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho a, nsuro sɛ wubebisa wo duruyɛfo. Nsɛmmisa bi a wubetumi abisa ni:

• Mɛyɛ dɛn atumi atew asiane a ɛwɔ hɔ sɛ mɛwo abofra a ɔwɔ awosu mu yare te sɛ trisomy no so?
• Nhwehwɛmu bɛn na wokamfo kyerɛ sɛ wɔnyɛ ansa na wɔawo de akyerɛ sɛ me ba no wɔ awosu mu tebea bi anaa?
• So metumi anyinsɛn yiye bere a wɔahu sɛ mewɔ trisomy akyi?

Nsonsonoe bɛn na ɛda Trisomy ne Monosomy ntam?

Eyinom abien nyinaa yɛ awosu mu tebea horow.

• Trisomy yɛ chromosome bi a ɛka ho a ɛwɔ hɔ.
• Monosomy yɛ chromosome bi a enni hɔ (i.e., chromosome biako a ɛyera).

Saa awosu mu tebea abien yi nyinaa ba esiane awosu mu nsakrae a ɛba bere a nkwammoaa mu mpaapaemu nti. Wontumi nsiw saa ade a ɛnteɛ yi kwan sɛ ɛbɛba bere a nkwammoaa mu mpaapaemu no.

Nea ɛsɛ sɛ yɛkae fi nea yɛaka ho asɛm no mu (Take-Home Message) .

Esiane sɛ ɔkwan biara nni hɔ a wobɛfa so asiw awosu mu nneɛma a ɛnteɛ te sɛ trisomy ano nti, sɛ woreyɛ nhyehyɛe anyinsɛn a, wo ne wo duruyɛfo nka awosu mu nhwehwɛmu ho asɛm na ama woahu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu yare bi.

Sɛ wohu sɛ wowɔ trisomy yare bi bere a woanyinsɛn a, mma wo ho nnyɛ wo hu. Mmoa ne nneɛma pii wɔ hɔ a ɛbɛboa wo ne wo ba no ma wɔatra ase wɔ apɔwmuden, a abotɔyam wom. Awosu mu afotu betumi aboa wo ma woate wo ba no tebea ase na ama woanya ɔhwɛ ne mmoa a wohia bere a ɔrenyin no. Kae sɛ ɛnyɛ wo nko ara.

` Trisomy, chromosomes, awosu mu nkwaadɔm, Down syndrome, nyinsɛn, awosu mu nhwehwɛmu, Patau syndrome, Edward syndrome