Ingabe kukhona inkinga ngama-chromosome engane yakho? Ake sixoxe nge-Aneuploidy ngamagama alula!

Kujwayelekile kakhulu kini, enilindele ukuba ngumama, ukuba nokukhathazeka nokwesaba okuningi ngezinto ngalesi sikhathi. Ikakhulukazi uma ucabanga ngempilo yengane esesiswini sakho. Ngezinye izikhathi sibuza odokotela, noma ngisho nabantu abangaphansi kwethu, mayelana "nezifo zofuzo" noma "izinkinga ze-chromosome." Yilokho esizokhuluma ngakho namuhla, isimo esibizwa ngokuthi i-Aneuploidy . Igama lingase lizwakale njengento enkulu, kodwa ungakhathazeki. Sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Ayini ama-chromosome? Ake sikuqonde kalula.

Cabanga nje, yonke iseli encane emzimbeni wethu inamabhola amancane entambo ngaphakathi kuyo. Yilokho esikubiza ngokuthi ama-chromosome . Ngaphakathi kwala ma-chromosome kukhona i-DNA yethu, ebaluleke kakhulu. Njengohlelo olukwikhompyutha, le-DNA iqukethe yonke imiyalelo nolwazi oludingwa yimizimba yethu ukuze ikhule, ithuthuke, futhi yenze konke. Sithola le miyalelo kumama nobaba bethu. Yingakho ngezinye izikhathi sifana nomama wethu, ngezinye izikhathi sifana nobaba wethu, futhi ngezinye izikhathi sinenhlanganisela yakho kokubili.

Mina nawe, sonke sithole ama-chromosome angu-23 kumama wethu kanye nangu-23 kubaba, okwenza kube nama-chromosome angu-46 . Lawa ahlelwe ngamabili ngaphakathi kwamaseli ethu; okungukuthi, amabhangqa angu-23. Kulawa, amabhangqa angu-22 afana kuwo wonke umuntu. Amabhangqa okugcina anquma ukuthi singabesifazane noma abesilisa. Ngokuvamile, uma kuyintombazane, ahlelwe njengo- XX , kanti uma kuyimfana, ahlelwe njengo -XY .

Amangqamuzana omzimba wethu ahlala eshintshwa. Lapho amangqamuzana amadala efa, kwakheka amangqamuzana amasha. Lokhu sikubiza ngokuthi ukuhlukaniswa kwamaseli . Kuyinqubo elula, njengalapho 'ukopisha' futhi 'unamathisela' kukhompyutha. Lapho amangqamuzana ehlukana ngale ndlela, ama-chromosome esikhulume ngawo afana ncamashi, futhi angena kumaseli amabili amasha akhiwayo. Lokhu kwenzeka empilweni yethu yonke. Futhi, lapho amangqamuzana ayisisekelo adingekayo ukwakha umntwana omusha, okungukuthi, iqanda likamama kanye nesidoda sikababa, lokhu kuhlukaniswa kwamaseli nakho kuyenzeka. Kodwa-ke, ngezinye izikhathi kungaba namaphutha amancane kanye nokuntuleka kulokhu kuhlukaniswa kwama-chromosome. Inani eliqondile lama-chromosome okufanele ahlukaniswe lingase lingafani. Uma lokho kwenzeka, amanye amangqamuzana awatholi inani eliqondile lama-chromosome okufanele ahlukaniswe. Leso yisona sizathu esiyinhloko sezimo zofuzo ezifana ne- (Turner syndrome) noma (Down syndrome) .

Ngakho-ke, kuyini lokhu (i-aneuploidy)?

Kalula nje, i-aneuploidy ukungabikho kwenani elifanele lama-chromosome emaseli ethu, okungama-46. Esikhathini esiningi, lesi simo senzeka ngenxa yephutha elincane elenzeka lapho kwakheka iqanda likamama noma isidoda sikababa. Bese kuthi, njengoba umntwana eqala ukukhula, kuqala ngoshintsho enanini lama-chromosome.

Kunezinto ezimbili ezingenzeka kulokhu:

1.I-Trisomy: Lokhu kusho ukuthi kukhona ikhophi eyengeziwe ye-chromosome eyodwa, okuholela kuma-chromosome angu-47 esewonke.

2. I-Monosomy: Lokhu kusho ukuthi i-chromosome eyodwa ayikho, okuholela kuma-chromosome angu-45 esewonke.

Uma umntwana ekhulelwa ngalolu hlobo lokungajwayelekile kwe-chromosome, ukukhulelwa kuvame ukungapheli ngempumelelo. Kukhona ingozi enkulu yokuphuphuma kwesisu . Eqinisweni, izifundo zithole ukuthi lesi simo (i-aneuploidy) sibangela cishe ingxenye yazo zonke izisu ezenzeka ngesikhathi se-trimester yokuqala.

Yiziphi izinhlobo eziyinhloko ze-aneuploidy?

Njengoba sishilo ngaphambili, kunezinhlobo ezimbili eziyinhloko ze-aneuploidy: i-Trisomy kanye ne-Monosomy.

I-Trisomy

I-Trisomy isho ukuthi umntwana une-chromosome eyengeziwe. Lokhu kuletha inani eliphelele lama-chromosome ku-47. Kunezimo eziningana eziyinhloko ezingaba umphumela walokhu:

• I-Down syndrome: Lesi yisimo esisizwa kakhulu ngaso. Okwenzeka lapha ukuthi kukhona ikhophi eyengeziwe ye-chromosome 21. Lokho kusho ukuthi kunezikhophi ezintathu ze-chromosome 21. Lokhu kubizwa nangokuthi (i-Trisomy 21) .
• (I-Trisomy 18) I-Trisomy 18: Yilapho kukhona khona ikhophi eyengeziwe ye-chromosome 18. Ngaphambilini eyaziwa ngokuthi i-Edwards syndrome , lesi simo singabangela izinkinga eziningi zempilo ezinganeni ezizalwa nalesi simo.
• (I-Trisomy 13) I-Trisomy 13: Yilapho kukhona khona ikhophi eyengeziwe ye-chromosome 13. Ngaphambilini eyaziwa ngokuthi i-Patau syndrome , lesi futhi yisimo esibangela izinkinga ezinkulu zempilo.

I-Monosomy

I-monosomy isho ukuthi umntwana uthola i-chromosome eyodwa engaphansi. Lokhu kuphumela kuma-chromosome angu-45 esewonke. Izimo eziyinhloko ezibangelwa yilokhu yilezi:

• I-Turner syndrome: Lesi yisifo se-chromosome yobulili. Ngokuvamile, ingane yesifazane inama-chromosome amabili e-X (XX). Ingane yesifazane ene-Turner syndrome ine-chromosome eyodwa ye-X kuphela. Lokhu kubizwa ngokuthi (i-Monosomy X) . Njengoba ingekho i-chromosome ye-Y, laba bantwana bazalwa bengamantombazane.

Ubani okungenzeka kakhulu ukuthi athinteke yilesi simo?

Eqinisweni, isimo esibizwa ngokuthi i-aneuploidy singathinta noma yimuphi umntwana . Kwenzeka ngokungahleliwe. Kodwa-ke, ezinye izifundo zithole ukuthi ingozi iyanda kancane njengoba umama ekhula . Isibonelo, umama oneminyaka engu-20 unethuba elilodwa kwangu-1,480 lokuthola umntwana one-chromosome engavamile, kanti umama oneminyaka engu-40 unethuba elilodwa kwangu-65. Kodwa-ke, lokhu akusho ukuthi omama abasebasha abasengozini. Endabeni ye-Turner syndrome, kuthiwa ubudala abudlali indima ebalulekile.

Yingakho, uma ucabanga ngokuba nomntwana, khuluma nodokotela bese uthola ukwelulekwa ngofuzo.Kubaluleke kakhulu ukukuthola. Khona-ke ungaziqaphela lezi zimo kusenesikhathi, uqonde izingozi zakho, futhi ukhulume ngezivivinyo ezidingekayo.

I-aneuploidy ivame kangakanani? Ingabe kukhona ukuxhumana nokuphuphuma kwezisu?

Ukukhubazeka kwe-Aneuploidy kanye ne-chromosome kuvame kakhulu kunalokho esikucabangayo. Kwenzeka cishe kokukhulelwa okukodwa kwabangu-150 . I-Aneuploidy nayo ibangela cishe u-50% wokuphuphuma kwesisu kusenesikhathi . Lokhu kusho ukuthi ezimweni eziningi, imvelo izoqeda ukukhulelwa ngokukhubazeka kwe-chromosome kunokuba iqhubeke nakho.

I-aneuploidy ingakuthinta kanjani ukukhulelwa?

Ukuba ne-chromosome eyengeziwe (i-Trisomy) noma ukuntuleka kwama-chromosome (i-Monosomy) kungathinta ukukhulelwa ngezindlela ezahlukene.

I-Trisomy:

Ukukhulelwa okuningi nge-trisomy kugcina ngokuphuphuma kwesisu . Izifundo zibonisa ukuthi cishe u-35% wazo zonke izisu eziphuphumayo zibangelwa yi-trisomy. Kodwa-ke, akuvamile kakhulu, cishe u-1% wezingane uzalwa enezimo ze-trisomy. Phakathi kwazo, ezivame kakhulu yizingane ezine-(Trisomy 21) noma (Down syndrome). Uma umntwana ezalwa enesimo se-trisomy esinjalo, izinga lokusinda kwengane lingase libe phansi kunengane evamile. Lokhu kungenxa yezinkinga ezahlukahlukene kanye nokukhubazeka kokuzalwa okwenzeka lapho ezalwa.

I-Monosomy:

Izimo ze-monosomy azivamile kune-trisomies. Ngokwaziwa, yi-Monosomy X kuphela, noma i-Turner syndrome, ebangela ukuzalwa okuphilayo. I-Turner syndrome yenzeka uma kukhona i-chromosome eyodwa kuphela ye-X. Ngenxa yokuthi ayikho i-chromosome ye-Y, laba bantwana bazalwa bengamantombazane.

Ziyini izimpawu ze-aneuploidy?

Uphawu oluvame kakhulu lwe-aneuploidy ukuphuphuma kwesisu . Lokhu kwenzeka lapho ukukhulelwa kuphela phakathi nesikhathi sokukhulelwa. Lokhu kuvame ukwenzeka phakathi nekota yokuqala, kodwa ngezinye izikhathi kungenzeka kamuva. Izimpawu zokuphuphuma kwesisu zifaka:

• Ukuba nobuhlungu esiswini esingezansi nasemhlane.
• Ukuqaqamba kwamalunga njengasesikhathini.
• Mhlawumbe kancane, mhlawumbe ukopha okuningi.

Okubalulekile: Uma ucabanga ukuthi unalezi zimpawu, kufanele ubonane nodokotela ngokushesha.

Kodwa-ke, yize cishe u-50% wokuphuphuma kwesisu kubangelwa yizimbangela zofuzo ezifana ne-aneuploidy, izingane ngezinye izikhathi zingazalwa zinalesi simo. Izingane ezinjalo zinamathuba amaningi okuba nezinkinga zokuzalwa , kanye nokubambezeleka kokukhula kanye nokukhubazeka kwengqondo .

Kungani lokhu (i-aneuploidy) kwenzeka? Ziyini izimbangela?

I-Aneuploidy iyisici esibangelwa ufuzo. Ngokuvamile, lesi sici senzeka ngaphambi kokuba iqanda likamama kanye nesidoda sikababa sihlangane, okungukuthi, ngesikhathi senqubo yokwakheka kweqanda nesidoda. Sikhulume ngaphambilini ngokuhlukaniswa kwamaseli. Amaqanda nesidoda kwakhiwa ngenqubo ekhethekile yokuhlukanisa amaseli ebizwa ngokuthi i-meiosis . Lapha, iseli elinama-chromosome angu-46 lihlukana kabili, lidala amaseli amane (amaqanda noma isidoda) anama-chromosome angu-23 ngalinye. I-Aneuploidy yenzeka lapho ama-chromosome amabili engahlukani kahle phakathi nale meiosis, futhi amanye amaqanda noma isidoda anama-chromosome amaningi kakhulu noma ambalwa kakhulu.

Lokhu kuyinto eyenzeka ngokungahleliwe nangokungalindelekile . Njengoba nje umshini wokunyathelisa ehhovisi ngezinye izikhathi uyeka ukusebenza ngokuzumayo, noma iphepha linyatheliswe endaweni yalo, i-DNA yethu nayo ingaba nalezi zinhlobo zamaphutha. Akekho ongasho ukuthi kuzokwenzeka nini noma kanjani. Uma ufuna ukwazi okwengeziwe ngalokhu, kungumqondo omuhle ukukhuluma nodokotela bese uthola ukwelulekwa ngofuzo.

Ingabe kukhona ukuhlolwa okungabona i-aneuploidy ngesikhathi sokukhulelwa?

Yebo, kunezivivinyo eziningana ezingenziwa ngesikhathi sokukhulelwa ukuze kutholakale ukuthi ingane inalesi simo esibizwa ngokuthi i-aneuploidy. Ezinye zalezi izivivinyo zokuhlola, kanti ezinye ziyizivivinyo zokuxilonga.

• Ukuhlolwa Kwangaphambi Kokubeletha Okungahlaseli (NIPT) / Ukuhlolwa Kwangaphambi Kokuzalwa Okungahlaseli (NIPS): Lokhu ukuhlolwa kwegazi okulula okungenziwa ngemva kwamasonto ayi-10 okukhulelwa. Kuthatha isampula yegazi likamama bese kubheka i-DNA yomntwana kulo ukuze kubonakale ukuthi kungenzeka kangakanani ukuthi abe nezimo ezifana ne-Down syndrome, i-Trisomy 18, kanye ne-Trisomy 13. Lokhu kukutshela kuphela ingozi, hhayi imbangela eqondile.
• Ukusampula Kwe-Chorionic Villus (CVS): Lokhu ukuhlolwa okwenziwa phakathi kwamasonto ayi-10 kuya kwayi-13 okukhulelwa. Lapha, udokotela uthatha isampula encane kakhulu yamaseli avela ku-placenta bese eyihlola ukuze athole izimo zofuzo. Lokhu kungathola ngokunembile izimo ezifana ne-aneuploidy. Kodwa-ke, kunengozi encane kakhulu yokuphuphuma kwesisu.
• I-Amniocentesis: Lokhu ukuhlolwa okuvame ukwenziwa phakathi kwamasonto ayi-15 kuya kwangama-20 okukhulelwa. Lapha, udokotela uthatha isampula encane yoketshezi lwe-amniotic oluzungeze umntwana bese ehlola amangqamuzana omntwana akulo. Lokhu kungaphinde kubone ngokunembile izimo ezifana ne-aneuploidy kanye nezinye izinkinga zokuzalwa. Kukhona futhi ingozi encane kakhulu yokuphuphuma kwesisu.

Ngaphambi kokwenza isinqumo mayelana nalezi zivivinyo, kubaluleke kakhulu ukukhuluma nodokotela wakho ngokucophelela futhi uqonde izinzuzo nezingozi.

Iphathwa kanjani i-Aneuploidy?

Empeleni, akukho ukwelashwa okuqondile kwalesi simo (i-Aneuploidy).. Izimo eziningi ze-aneuploidy ziyabulala ingane, noma zibangela izinkinga ezinkulu njengokukhubazeka kwengqondo kanye nokukhubazeka ngokomzimba. Ngakho-ke, ukwelashwa kuhloselwe ukwelapha izimpawu nezinkinga zengane ngayinye. Okusho ukuthi, ukuthuthukisa uhlelo lokwelashwa olulungiselelwe ingane ngayinye futhi luyigcine iphilile.

Uma ukhulelwe, kukhona ingozi yokuphuphuma kwesisu ngenxa ye-(aneuploidy). Ukuphuphuma kwesisu kuyinto enzima kakhulu kowesifazane, ngokomzimba nangokomzwelo. Uma lokhu kwenzeka, udinga ukuzinika isikhathi sokululama.

Uma ucabanga ukuqala umndeni, khuluma nodokotela mayelana nokuhlolwa kofuzo kanye nezindlela zokwandisa amathuba akho okukhulelwa okuphumelelayo.

Ingabe kukhona esingakwenza ukunciphisa ingozi ye-aneuploidy?

I-Aneuploidy ayinakuvinjelwa ngokuphelele ngoba iyiphutha elivela ngofuzo elingahleliwe. Kodwa-ke, kunezinto eziningana esingazenza ukunciphisa ingozi yokuba umntwana abe nephutha lokuzalwa:

• Ukudla ukudla okunempilo: Ukudla ukudla okunempilo kubaluleke kakhulu ngesikhathi sokukhulelwa.
• Thola ukuhlolwa kofuzo ngaphambi kokuhlela ukukhulelwa: Ikakhulukazi uma othile emndenini wakho enesifo sofuzo, noma uma uneminyaka engaphezu kwengu-35 ubudala.
• Gwema ngokuphelele ukubhema nokuphuza utshwala.
• Ukuthatha amavithamini anconywe udokotela wakho ngendlela efanele ngaphambi kokubeletha: ikakhulukazi amavithamini aqukethe i-folic acid.

Uma uphuphunyelwa yisisu ngenxa ye-aneuploidy, ungakhulelwa futhi?

Yebo, isikhathi esiningi kungenzeka . Amathuba okuphuphuma kwesisu ngenxa yokuphuphuma kwesisu ngenxa ye-aneuploidy aphansi kakhulu. Ngoba, njengoba sishilo ngaphambili, lokhu kuyinto eyenzeka ngokungahleliwe. Abesifazane abaningi baye baba nezingane ezinempilo ngemva kokuphuphuma kwesisu ngenxa ye-aneuploidy. Kodwa-ke, kuwumqondo omuhle ukukhuluma nodokotela wakho ngezingozi zakho kanye nokuhlolwa okungenziwa ngaphambi kokuzama ukukhulelwa futhi.

Yini ongayilindela uma unengane ene-aneuploidy?

Esikhathini esiningi, lapho kutholakala ukuthi unesimo (i-aneuploidy), abazali kufanele babhekane nokukhishwa kwesisu. Lokhu kuyinto edabukisayo kakhulu. Kodwa okudingeka ukuqonde ukuthi lokhu kwenzeke ngenxa yephutha lofuzo elenzeka ngesikhathi sokukhulelwa, hhayi ngenxa yalokho umama akwenzile ngesikhathi sokukhulelwa. Udokotela wakho uzokusiza ukuthi ululame ngokomzimba nangokomzwelo ngemva kokukhishwa kwesisu.

Uma ingane izalwa ine-aneuploidy, ingane ingase ibhekane nokubambezeleka kokukhula , ukukhubazeka okufushane, ukukhubazeka kokuzalwa, kanye nokukhubazeka kwengqondo kukho konke ukuphila kwayo. Ngakho-ke, kubaluleke kakhulu ukuhlola impilo yengane njalo nodokotela futhi unikeze ukwelashwa nokusekelwa okudingekayo. Akukho ukwelashwa okuphelele kwe-aneuploidy.

Kufanele ubonane nini nodokotela?

• Unezimpawu zokuphuphuma kwesisu.Uma unezimpawu (ubuhlungu besisu, ubuhlungu bomhlane, ukopha), bona udokotela ngokushesha. Uzokutshela ukuthi udinga ukuya esibhedlela noma cha.
• Ngemva kokukhipha isisu, uma uhlangabezana nanoma yiziphi zalezi zimpawu, xhumana nodokotela ngokushesha, ngoba zingaba uphawu lokutheleleka:
• Uma unomkhuhlane kanye nomkhuhlane (Ukugodola, Umkhuhlane)
• Uma uphuma igazi kakhulu (ukopha kakhulu)
• Uma uzwa ubuhlungu nokungakhululeki njalo

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela wakho?

Uma ukhuluma nodokotela ngalokhu, ungakhohlwa ukubuza le mibuzo:

• Ingabe ngisengozini yokuba nengane enesifo esihambisana nofuzo?
• Ngemva kokukhipha isisu ngenxa ye-aneuploidy, ingabe umzimba wami uphilile ngokwanele ukuba ngithole omunye umntwana?
• Uma ngisengozini yokuba nengane enesifo sofuzo, ingabe ungincoma ukuthi ngihlolwe okwengeziwe ngaphambi kokubeletha?

Uyini umehluko phakathi kwe-(Aneuploidy) kanye ne-(Polyploidy)?

I-Aneuploidy kanye ne-polyploidy zombili izimo zofuzo ezibangelwa ushintsho enanini lama-chromosome ku-DNA yomntwana. Kodwa kunomehluko omncane.

• I-Aneuploidy ukuba khona kwe-chromosome eyodwa eyengeziwe (isb. 47) noma i-chromosome eyodwa engaphansi (isb. 45). Akuvamile ukuthi kube nama-chromosome amaningi angekho/angeziwe.
• I-Polyploidy yisimo sokuba nesethi eyengeziwe yama-chromosome (okungukuthi ama-chromosome angu-23). ​​Isibonelo, uma uthola ama-chromosome angu-23 kumama wakho kanye nama-chromosome angu-46 kubaba wakho (okungukuthi kabili inombolo evamile), ibizwa ngokuthi i-Triploidy. Lezi yizimo ezingavamile kakhulu futhi ezivame ukuba yingozi.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Aneuploidy ingaba yinto eyesabekayo uma uzwa ngayo. Kodwa khumbula, imvamisa iyinto eyenzeka ngokungahleliwe, kungengenxa yephutha lakho. Njengoba nje ikhompyutha esiyisebenzisayo iyeka ukusebenza ngokuzumayo, ngisho nalapho amangqamuzana ethu ehlukana, amaphutha amancane angenzeka ngezinye izikhathi.

Into ebaluleke kakhulu ukwazi ukuthi awuwedwa. Kukhona odokotela, umndeni, nabangani abangakhuluma ngalokhu, bakunike iseluleko, futhi bakusize. Uma uhlela ukukhulelwa, noma usuvele ukhulelwe, khuluma ngokukhululekile ngalokhu nodokotela wakho. Thola ukwelulekwa ngofuzo. Lokhu kuzokusiza uqonde izimo ezifana ne-aneuploidy, izingozi zakho, kanye nokuhlolwa okungenziwa. Futhi, uma kufanele ubhekane nesipiliyoni esibuhlungu njengokuphuphuma kwesisu, ungangabazi ukuthola ukwesekwa okudingayo ukuze ululame ngokomzimba nangokomzwelo kukho.

Sithemba ukuthi konke kuzohamba kahle!

Ama - chromosome, i-aneuploidy, izakhi zofuzo, ukukhulelwa, ukuphuphuma kwesisu, i-Down syndrome, i-Turner syndrome, i-trisomy, i-monosomy, ukuhlolwa kwezakhi zofuzo, ukukhubazeka kokuzalwa, i-DNA, ukuhlukaniswa kwamaseli