Down syndrome: iimpawu ngexesha lokukhulelwa, okubangela

Wonke umntwana, kungakhathaliseki ukuba iingxaki ezinokuvela, ukuba athandwe yamonga ngabazali babo. Kweli nqaku Ndifuna ukuthetha malunga nokukhulelwa aqhubeke ngayo umntwana Down syndrome yaye yintoni iingxaki osenokuba nazo.

A amagama ambalwa malunga nesifo

Isifo got igama layo wokuwonga elaa ugqirha ndimncinile mna - Dzhon Lengdon Ezantsi. Nabezempilo waqalisa umsebenzi wakhe kude 1882, iziphumo epapashwe kule minyaka-4. Yintoni sithi ngesi sifo? Ngoko ke, eli ngezifo eye chromosomal indalo: kukho ukusilela kwinkqubo sisahlula cell. Izazinzulu lubonise ukuba abantwana abazelwe Down syndrome, kukho, chromosome eyongezelelweyo 47th (kubantu abasempilweni, iseli nganye zofuzo 46, eziqulathe iinkcukacha ezibalulekileyo). Ukuba nje bathi, abantu kwesi sifo kuthathwa Ugula ngengqondo (nangona kunjalo kodwa ukuba angabizwa ngokohlobo imilinganiselo yokuziphatha ngentsulungeko).

izibakala

izinto eziphambili malunga nesifo:

1. syndrome Down xa ekhulelwe ichaphazela ngokulinganayo zombini amakhwenkwe kunye namantombazana.
2. Statistics: 1,100 abantwana abasempilweni wazalwa 1 baby nale syndrome.
3. March 21 - Usuku Solidarity nabantu babe Down syndrome. Loo nto inika umdla mhla andinyulanga ngengozi. Ngapha koko, unobangela isifo - trisomy of chromosome 21 (inombolo 21, inani lothotho inani lenyanga - 3).
4. Abantu nale unesifo ubomi ukuya kwiminyaka engama-60. Kwaye ngenxa mihla bazi-njani kwindawo yokuchitha kakhulu ubomi obuqhelekileyo ezipheleleyo (bayakwazi ukufunda, ukubhala, inxaxheba kubomi beli).
5. Esi sifo akukho imida okanye amaqela umngcipheko. Loo mntwana ozelwe ngumfazi, nokuba umgangatho wemfundo, isikhundla ekuhlaleni, umbala okanye ubume bempilo.

izizathu

Sihlola umxholo: "Down syndrome:. Iimpawu ngethuba lokukhulelwa" Ziziphi izizathu nga negalelo kwesi sifo? Ngoko ke, njengoko kutshiwo ngasentla, elijongene nayo yonke chromosome extra 47th. Zonke iinkqubo ezikhokelela ukwenzeka syndrome zenzeke ngexesha lokusekwa foetal intrauterine ngexesha hlula cell. Iingcali zale mihla bathi random izakhi chromosomal, yeyiphi engaxhomekekanga imiba yangaphandle.

Amaqela ingozi kunye nezibalo

Umngcipheko syndrome Down xa ekhulelwe uyohluka amaqela ezahlukeneyo nabasetyhini:

1. iminyaka 20-25. Umngcipheko yale uphawu kwi umntwana ilingana 1/1562.
2. 25-35. ukunyuka Umngcipheko: 1/1000.
3. 35-39: 1/214.
4. Ezindala ngaphezu kweminyaka engama-45. Umngcipheko kangangoko kunokwenzeka mkhulu. Kulo mzekelo, iintsana 19 kuzalwa usana kunye Down syndrome.

Ke Tata, apha iziphumo zonyango azikho nje ngokucacileyo. Noko ke, iingcali ezininzi zithi ithuba elikhulu ukukhawula "umntwana kwelanga" ifumaneka koobawo abangaphezu kweminyaka engama-42.

iimvavanyo

izazinzulu Modern owasungula iimvavanyo ezizodwa, apho unako ekupheliseni ingozi syndrome Down xa ekhulelwe. Kulo mzekelo, umfazi kuza kufuneka baphendule le mibuzo ilandelayo:

1. Age.
2. Yohlanga.
3. imikhwa emibi (ukutshaya).
4. ubunzima bomzimba.
5. Ubukho SESWEKILE sinwenwa.
6. Inani lokukhulelwa.
7. Akhulelwe: Xana lalisetyenziswa Inkqubo-IVF.

Kodwa ke, kubalulekile ukuba ndithi umbulelo ukuba inkqubo yokuhlola enye kuphela ekupheliseni ingozi yokuba esi sifo umntwana lo syndrome akunakuba ekhulwini ezilikhulu. Ukuze wenze oku, sebenzisa imali eyongezelelweyo.

Ndazi njani?

Siyaqhubeka inkcazelo engakumbi kwi sihloko: "Down syndrome: iimpawu ngethuba lokukhulelwa." Njengoko sele kukhankanyiwe ngentla apha, eli ngezifo na uhlobo yemfuza. Ngoko ke, ungakwazi ukufunda ngayo ngexesha xa usana kwinkqubo yophuhliso Palsy. Luni uphando kulo mzekelo iya kuba kulo mba?

1. US. Kuba ixesha lokuqala kufuneka yenziwe kwixesha ukususela kwiiveki 11 ukuya ku-13. Kwimeko enjalo uya kufundwa kid nuchal eya kwenza kube lula ukuba sithi, ukuba kukho na ngezifo yomntwana (kwi-ultrasound kunokubonwa kwemfuneko oluphindwe okanye ubukhulu kuvumelekile na indawo intamo kungaphezu kwe-3 mm)
2. Uhlalutyo igazi sikanina. Ukwenza oku kuya kufuneka ukuba ukudlula igazi emthanjeni. Ukuba kukho into engaqhelekanga ndingekazalwa, kukamama kunyuswa amanqanaba β-enganeno of hCG (kuya kuba ngaphezu kwe-2 Mohm).
3. Uhlalutyo plasma. Ingozi yokuba ikamva umntwana syndrome isenokuba njalo ukuba icandelo PAPP-A umama ngaphantsi kwe-0.5.

Kufuneka ke ukuba olu phando kuthiwa "edityanisiweyo kulingwa yovavanyo '(okanye uvavanyo uvavanyo lokuqala). Kuphela xa kudityaniswa ukuvelisa iziphumo ezichanekileyo kwi-86%.

kuphando olongezelelweyo

Ngoko ke, Down engqondweni, iimpawu yokukhulelwa. US - njengendlela yophando - ukuba izigqibo unxilongo ngqo nje akwanelanga. Ukuba Ukuhlolwa yokuqala ibonisa ukuba usana unalo cider, umama okhulelwe ugqirha unako ukucebisa ukuya kwenye isifundo (kuya kufuneka xa kunokwenzeka ukuba lady uza isigqibo ukuqhomfa). It amnioscopy transcervical. Ngethuba le nkqubo, iisampuli chorionic villus ayemka, nto leyo eza kuhamba elebhu ukuba unyango olunzulu. Iziphumo kule meko oluchanekileyo 100%. Ingongoma ebalulekileyo: le nkqubo kunokuba yingozi ebomini bomntwana, esenza ke isigqibo, abazali kufuneka acinge ngalo. Oogqirha ubanyanzele umfazi kwesi sifundo akakwazi.

ukuhlolwa yesibini

Thina ukufunda ngakumbi mxholo: "Down syndrome: iimpawu ngethuba lokukhulelwa." Ngoko ke kubalulekile ngexesha ethwele umntwana uza kuba nayo yokuhluza yesibini. Kukholelwa kwithuba leenyanga ezintathu yesibini, phakathi kweeveki 16 18 yokukhulelwa. Iimpawu ze syndrome kwi sifundo kanyoko igazi:

1. HCG umama 2 apha ngasentla.
2. Amanqanaba AFP ngezantsi 0.5 umama.
3. estriol Free - ngaphantsi kwe-0.5 umama.
4. Inhibin A - 2 umama.

Kwakhona kubalulekile uya kuba diagnosis ultrasound:

1. ubukhulu yeziqhamo encinci kunesiqhelo.
2. Ukuncitshiswa okanye ukungabi ithambo ngeempumlo emntwaneni.
3. Kokunciphisa amathambo femoral kunye humeral.
4. Imihlathi Ubungakanani kid eliphezulu iza kube incinane kunesiqhelo.
5. Kuya kuba Umthambo omnye endaweni ababini intambo yosana bomntwana.
6. Isinye wokuchama yosana olungekazalwa iza kwandiswa.
7. Lo ngumntwana izinga lentliziyo rapid waphawula.
8. Umfazi inokuba yokunqongophala kwamanzi. Okanye fluid kungangabikho ngokupheleleyo.

eyeka ukukhulelwa

Yintoni enye kufuneka uyabazi abafazi abo ukuqwalasela umxholo: "Down syndrome:? Iimpawu lokukhulelwa" Ngoko ke, lo ukuhla isisu enye akakwazi. Oku kufuneka kube kuhle ukukhumbula. Ugqirha angacebisa kuphela ezi zilandelayo:

1. Ukupheliswa ukukhulelwa kunye balahle olungekazalwa kunye ngezifo.
2. Nika kuzala, kungakhathaliseki ukuba yintoni, itakane abanezidingo ezizodwa (kulo mzekelo aniswele igunya nje kuphela, kodwa kwakhona njengendlela).

Ukugqiba ngayo iziganeko aya kuphuhlisa ezinye, ukuba kuphela ngabazali bomntwana.

malunga unina

Ngoko ke, Down engqondweni. Iimpawu zokukhulelwa, ngoko ukuthetha, kanye ngayo nantoni olwahlula nesi sifo, zikhona. Kutheni ndiziva ngexesha lokumitha zosana ekhethekileyo malunga umama okhulelweyo? Ayikho into engaqhelekanga. Kwi imeko lwangaphandle kunye nempilo yomfazi ayikho impembelelo. ie yonke into eyenzekayo nabanye abakhulelweyo kwenzeka kunye nomama wam, umntwana ongekazalwa a ngezifo. Ngoko ke omnye kuphela inkangeleko okanye ubukho iimpawu ezithile umfazi akakwazi ukuthetha malunga nokuba ezinxaxhileyo zakhe usana.

amathuba

Ngokubhekele phaya kuqwalaselwa ngezifo ezifana Down engqondweni. Ngexa lokukhulelwa, ingakumbi ukuba ufake isigulo esithile, abazali abaninzi banomdla: Ukuba umntwana uzelwe kunye ngezifo, akukho ithuba lokuba usana yesibini ngaphandle kutenxa kokumiselweyo? Kukho iindlela ezimbini:

1. Ukuba umntwana lo nakathathu obabuthandwa chromosome 21, amathuba ukukhulelwa emva kunye ngezifo efanayo - 1%.
2. Ukuba ilifa umama okanye ifomu kwazo notata, yindlela ingaphezulu. Nakuba kunjalo, amanani ngqo kuba abekho oogqirha.

Oh baby

Mhlawumbi ayingabo bonke uyazi ukuba abantwana esi sifo kuthiwa "kids elanga." Ngokuba abantu abanjalo kukho ukukhubazeka engqondweni (ekungabonini ukusuka ngobulali iintlobo ezintsonkothileyo ngaphezulu). Kodwa oku isivakalisi. Ngenxa iinkqubo zoqeqesho mihla kunye izazinzulu zophuhliso, abantwana abanjalo kunokukhokelela ubomi obuqhelekileyo kakhulu. Ukuba yenziwe ngendlela eyiyo, umntwana, kodwa kakhulu ukwazi ukuba bafunde ukubhala, ukufunda nje kuphela. Aba bantwana, njengaye wonke umntu, angathanda ukuba 'uphume ", ukuhamba, ukujonga into entsha, eqaqambileyo ezintle. Kwizixeko ezinkulu apho amaziko ezikhethekileyo apho ndawonye abantwana ukuba isigulo eso, bekwi. nokuba kukho ezinye izikolo ukuba izigulane kunye Down syndrome. Akuthandabuzeki ukuba, umntu uxilongo maxa wambi ukwenza ngaphandle uncedo, kubalulekile ukukhumbula ukuba. Ngoko ke, xa le mveku kwafunyanwa Down engqondweni ngexesha lokukhulelwa, abazali kufuneka ahlole ngenyameko iingenelo neengozi ukuba benze isigqibo esifanelekileyo.