-Down syndrome: izimpawu ngesikhathi sokukhulelwa, izimbangela

Njalo ingane, kungakhathaliseki ukuthi izinkinga ezingase ziphakame, ukuze ngithandwa futhi ngaziswa abazali babo. Kulesi sihloko ngifuna ukukhuluma kanjani ukukhulelwa okuphuma ene-Down syndrome nalokho nobunzima oyizwayo.

A amazwi ambalwa mayelana isifo

Lesi sifo lethiwa yokudumisa udokotela ngubani ngimhlolile - Dzhon Lengdon Down. Medic eqala umsebenzi wakhe e ezikude 1882, imiphumela eshicilelwe eminyakeni 4. Singathini ngalesi sifo? Ngakho, it is a zokugula ukuthi has chromosomal imvelo: kukhona ukwahluleka inqubo cell division. Ososayensi baye babonisa ukuthi abantwana abazalwa abane-Down syndrome, kukhona eyengeziwe, chromosome lika-47 (abantu enempilo, iseli ngalinye inama-chromosome angu-46, athwala ukwaziswa okubalulekile zofuzo). Uma sithi nje, abantu nale Ihlahlubo ezibhekwa ebhasha ngokwengqondo (Nokho sinjalo kalingabizwa ngokuthi ngokuvumelana nezindinganiso kuyisiphazamiso esimisweni sokuhle nokubi).

amaqiniso

amaqiniso Key ngalesi sifo:

1. Down Syndrome ekukhulelweni ngokulinganayo kuthinta kokubili abafana namantombazane.
2. Izibalo: izingane 1,100 enempilo ozalwa 1 ingane nale sifo.
3. 21 Mashi - usuku ubumbano abantu babe Down syndrome. Kuyathakazelisa ukuthi ngosuku awuzange ekhethwe ithuba. Phela, imbangela isifo - trisomy ne-chromosome 21 (inombolo 21, inombolo ye-serial ngenyanga - 3).
4. Abantu nale Ihlahlubo kungase aphila iminyaka engaba ngu-60. Futhi sibonga yesimanje kokuxazulula esimweni ukuchitha ngempela ukuphila okuvamile egcwele (bayazi ukuthi ukufunda, ukubhala, iqhaza empilweni yomphakathi).
5. Lesi sifo alinayo imingcele engokoqobo noma amaqembu ingozi. ingane enjalo ingase ibe ozalwa ngowesifazane, kungakhathaliseki izinga lemfundo, isikhundla emphakathini, umbala noma isimo sezempilo.

izizathu

Sibheka okwengeziwe kwengqikithi ethi: "-Down syndrome:. Izimpawu ngesikhathi sokukhulelwa" Iziphi izizathu kungaba nomthelela yini kulumkhuhlane? Ngakho, njengoba kushiwo ngenhla, kuba nesibopho sokubhekela konke chromosome eyengeziwe ifana ne lika-47. Zonke izinqubo eziholela okuvela a syndrome ukwenzeka ngesikhathi kumiswa fetus intrauterine ngesikhathi cell division. ochwepheshe Modern bathi kuyinto okungahleliwe chromosomal ukuguquka kwezakhi zofuzo, okuyinto musa zincike iziphi izici zangaphandle.

amaqembu ingozi nezibalo

Ingozi Down Syndrome ekukhulelweni kuyahluka ngamaqembu ahlukene abesifazane:

1. iminyaka 20-25. Ingozi le uphawu e ingane ilingana 1/1562.
2. 25-35. Amathuba okuba nomdlavuza ayanda: 1/1000.
3. 35-39: 1/214.
4. Abaneminyaka engama-45. Ubungozi ngangokunokwenzeka mkhulu. Kulokhu, izingane 19 kuzalwa umntwana abane-Down syndrome.

Ngokuqondene noBaba, lapha okutholakele wezokwelapha akuzona njengoba kucacile. Nokho, ochwepheshe abaningi bathi ithuba elikhulu okukhulelwa a "ilanga ingane" kuyatholakala obaba phezu kweminyaka eyi-42.

ukuhlolwa

ososayensi Modern baye baklama ukuhlolwa okukhethekile, lapho ungakwazi ukuqeda ingozi Down Syndrome ekukhulelweni. Kulokhu, lo wesifazane kuyomelwe aphendule imibuzo elandelayo esemqoka:

1. Ubudala.
2. Uhlobo.
3. Izejwayezi ezimbi (ukubhema).
4. isisindo emzimbeni.
5. Ukuba khona ngesifo sikashukela.
6. Isibalo sokukhulelwa.
7. Conception: Ingabe yasetshenziselwa inqubo IVF.

Nokho, kusuke kukufanelekele ukusho ukuthi sibonga kuhlelo lokuhlola eyodwa kuphela ukuqeda ingozi sifo ingane yilesi sifo, ngeke ube amaphesenti ayikhulu. Ukuze wenze lokhu, sebenzisa imali eyengeziwe.

Ngazi kanjani?

Siyaqhubeka ingxoxo eyengeziwe ngesihloko: "-Down syndrome: izimpawu ngesikhathi sokukhulelwa." Njengoba sekushiwo ngenhla, lokhu zokugula has a imvelo zofuzo. Ngakho, ungafunda ngakho ngesikhathi lapho ingane kuyinqubo wokukhula kwengane esiswini. Hlobo luni ucwaningo kulokhu kuyoba efanele?

1. US. Ngokokuqala ngqá kumele kwenziwe esikhathini kusuka ezi-11 kuya ku-13. Esimweni esinjalo atawutadishelwa kid nuchal ukuthi uzokwenza lokho ukusho ukuthi, uma kukhona zokugula wengane (kwi-ultrasound kungabonwa ngokweqile nesibaya noma ukujiya kuvunyelwe kwendawo entanyeni is ezingaphezu kuka 3 mm)
2. Ukuhlaziya egazini likamama. Ukuze wenze lokhu kuyodingeka kudlule igazi emthanjeni. Uma kukhona engavamile ezingenzeka embungwini, kukamama kube amazinga β-subunit ka hCG aphakeme (ke kuyoba ngaphezu 2 Mohm).
3. Ukuhlaziya-plasma. Ingozi yokuba ingane syndrome esizayo kungahle kube icala uma ingxenye PAPP-A umama esingaphansi 0.5.

Kumele ukuthi lolu cwaningo ibizwa ngokuthi "kuhlangene Ukuhlolwa Assay" (noma ukuhlolwa ukuhlolwa kuqala). Kuphela inhlanganisela zingaba nemiphumela ukuthi zilungile at 86%.

ukucwaninga okwengeziwe

Ngakho, Down Syndrome, izimpawu zokukhulelwa. US - njengoba indlela ucwaningo - ngesinqumo ukuxilongwa okunembile awulona ngokwanele. Uma ukuhlolwa kuqala ebonisa ukuthi ingane ine cider, umama okhulelwe ukuze udokotela angase ukweluleka ukuya kwenye cwaningo (it kuzodingeka ku umcimbi ukuthi le ntokazi uyahamba ukunquma ukuba asikhiphe lesi sisu). It amnioscopy transcervical. Phakathi nale nqubo, amasampula chorionic villus ayabanjwa, okuzokwenza ukuya laboratory ukwelashwa olunzulu. Imiphumela kulokhu 100% lesifanele. Iphuzu elibalulekile: le nqubo ingase ibe yingozi empilweni yengane, ngakho kokwenza isinqumo, abazali kufanele icabangisise ngalesi. Odokotela sokuphoqelela wesifazane kule cwaningo bengayi.

ukuhlolwa yesibili

Sifundela okwengeziwe kwengqikithi ethi: "-Down syndrome: izimpawu ngesikhathi sokukhulelwa." Ngakho kubalulekile ngesikhathi bethwele umntwana kuyoba futhi Ukuhlolwa yesibili. Kunenkolelo e senyanga yesibili, phakathi amasonto 16 nele-18 okukhulelwa. Izimpawu yalesi sifo esifundweni kanina igazi:

1. HCG umama 2 ngenhla.
2. AFP amazinga ngezansi 0.5 umama.
3. Mahhala estriol - esingaphansi 0.5 umama.
4. Inhibin A - 2 umama.

Okunye okubalulekile kuyoba uphethwe ultrasound:

1. Usayizi Fruit ezincane kunokuvamile.
2. Kokunciphisa noma ukungabi khona ithambo acinene ingane.
3. Kokunciphisa we amathambo femoral futhi humeral.
4. I engenhla emhlathini usayizi kid ngeke zibe zincane kunokuvamile.
5. Kuzoba Umthambo omunye esikhundleni ezimbili umzanyana ingane.
6. Esinyeni urinary umbungu izokwenyuka.
7. Ingane ngokuvamile okusheshayo kwenhliziyo uyalandelwa.
8. Owesifazane kungenzeka nokuntuleka kwamanzi. Noma kungenzeka amniotic fluid lingekho ngokuphelele.

ukukhipha izisu

Yini enye kufanele wazi abesifazane abenza ucabangela kwengqikithi ethi: "-Down syndrome:? Izimpawu zokukhulelwa" Ngakho, ukwehla isisu eyodwa abakwazi. Lokhu kufanele kube kuhle ukukhumbula. Udokotela angakwazi kuphela ukweluleka okulandelayo:

1. Ukukhipha izisu ukuqeda i-fetus ne egunjini lokuhlolwa kwezifo.
2. Abelethe, kungakhathaliseki ukuthi, izinyane abanezidingo ezikhethekile (kuleli cala kudingeka amandla aminingi hhayi kuphela, kodwa futhi indlela).

Ukunquma indlela izenzakalo izothuthukangokuhamba, kukhona kuphela abazali bengane.

mayelana unina

Ngakho, Down Syndrome. Izimpawu yokukhulelwa, ngomqondo ongokomfanekiso, nanoma yini nje ehlonza nalesi sifo, abakhona. Kungani ngizizwa ngesikhathi sokukhulelwa umntwana inkulumo ekhethekile ekhuluma umama okhulelwe? Lutho engavamile. On isimo zangaphandle kanye nezempilo yowesifazane nhlobo nomthelela. okungukuthi konke okwenzekayo nabanye abakhulelwe kuzokwenzeka nomama, umntwana ongakazalwa ungumuntu a egunjini lokuhlolwa kwezifo. Ngakho ukuthi munye kuphela ukubukeka noma yobukhona babo yezimpawu zesifo esithile besifazane abakwazi ukusho mayelana nokuthi ingane yakhe ngeziphambeko.

amathuba

Ngaphezu kwalokho sicabanga zokugula ezifana Down Syndrome. Phakathi nenkathi yokukhulelwa, ikakhulukazi uma ufake uphethwe ethize, abazali abaningi banesithakazelo: uma ingane izalwa zokugula, likhona yini ithuba ukuba nengane yesibili ngaphandle ukuphambuka? Kukhona izinketho ezimbili yilezi:

1. Uma ingane nakathathu ejwayelekile ifana ne-chromosome 21, ematfuba ukukhulelwa okwalandela ne zokugula efanayo - 1%.
2. Uma luthathwe umama noma ubaba ifomu translocation, ematfuba lingaphezulu. Nokho, ngqo izibalo abanalo odokotela.

Oh baby

Mhlawumbe hhayi wonke umuntu uyazi ukuthi izingane nale sifo ngokuthi "izingane welanga." Kubantu abanjalo kukhona retardation engqondo (kungaba isukela imnene yinkimbinkimbi). Kodwa lokhu akulona umusho. Ngenxa yohlelo ukuqeqeshwa yesimanje nososayensi ukuthuthukiswa, izingane ezinjalo Ungaphila impilo evamile kakhulu. Uma kwenziwe ngendlela efanele, ingane hhayi kuphela, kodwa futhi ukwazi ngempela ukufunda indlela ukubhala, ukufunda. Lezi zingane, njengawo wonke umuntu, bathanda "Waphuma kuFaro evutha ulaka", ukuhamba, ukubheka into entsha, bhá futhi zizinhle. Emadolobheni amakhulu zikhona izikhungo ekhethekile lapho izingane kokuba kokutshelwa ngokukhubazeka kwengane, bekwi. Kukhona ngisho ezinye izikole iziguli ezine-Down syndrome. Ngokungangabazeki, umuntu uphethwe ngezinye izikhathi ngeke akwenze ngaphandle kosizo, kubalulekile ukukhumbula ukuthi. Ngakho-ke, uma ingane ekhulayo kutholakala Down Syndrome ngesikhathi sokukhulelwa, abazali kufanele ayicabangele ngokucophelela ngobuhle nangobubi bawo ukuze enze isinqumo esifanele.