Այս հոդվածում
- Ախտանիշներ
- Ախտորոշում
- Բուժում
- Հաղթահարում
- Աջակցություն
Պտղի քրոմոսոմային անոմալիաները պատասխանատու են վիժումների և մեռելածնության համար: Քրոմոսոմային անոմալիաները կարող են առաջացնել լուրջ խանգարումներ, ներառյալ՝ Դաունի համախտանիշ, զարգացման հապաղումներ կամ առողջական այլ խնդիրներ: Տրիսոմիայի ժամանակ անհատներն ունենում են տվյալ քրոմոսոմի երեք կրկնօրինակ՝ նորմալ երկուսի փոխարեն:
Պատաուի համախտանիշը կամ 13-րդ քրոմոսոմի տրիսոմիան աուտոսոմային տրիոսոմիաների ամենաքիչ հանդիպող և ամենածանր տեսակն է՝ Դաունի համախտանիշից (21-րդ քրոմոսոմի տրիոսոմիա) և Էդվարդսի համախտանիշից (18-րդ քրոմոսոմի տրիոսոմիա) հետո: Պատաու համախտանիշի դեպքում հանդիպող 13-րդ քրոմոսոմի լրացուցիչ պատճենն առաջացնում է լուրջ նյարդաբանական խնդիրներ և սրտի արատներ, որոնք նորածինների համար ապրելը դժվար են դարձնում։
Պատաուի համախտանիշի իրական պատճառը հայտնի չէ. նույնը վերաբերում է նաև VATER համախտանիշին: Ըստ երևույթին, Պատաուի համախտանիշն ավելի հաճախ հանդիպում է իգական սեռի մոտ, քան արական, ամենայն հավանականությամբ այն պատճառով, որ արական պտուղները պարզապես չեն ապրում մինչև ծնվելը: Պատաուի համախտանիշն էլ, Դաունի համախտանիշի նման, կապված է մոր մեծ տարիքի հետ: Այն կարող է հանդիպել տարբեր էթնիկ ծագում ունեցող անհատների շրջանում:
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Պատաուի համախտանիշով ծնված նորածինները հաճախ ունենում են ֆիզիկական շեղումներ կամ մտավոր խնդիրներ: Շատ երեխաներ չեն ապրում մեկ ամսից ավելի կամ մահանում են մեկ տարվա ընթացքում: Այլ ախտանշանները ներառում են՝
- Ոտքերի կամ ձեռքերի լրացուցիչ մատներ (պոլիդակտիլիա)
- Ոտնաթաթերի դեֆորմացիաներ
- Նյարդաբանական խնդիրներ, ինչպիսիք են՝ փոքր գլուխը (միկրոցեֆալիա), հղիության ընթացքում գլխուղեղի կիսագնդերի բաժանման խանգարումը (հոլոպրոզէնցեֆալիա), ծանր մտավոր հետամնացությունը
- Դեմքի արատներ, ինչպիսիք են՝ փոքր աչքերը (միկրօֆթալմիա), քթի բացակայությունը կամ մալֆորմացիան, շրթունքի և/կամ քիմքի ճեղքվածքը
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- Երիկամային արատներ
Պատաուի համախտանիշն այնքան էլ տարածված չէ․ 12,000 նորածիններից միայն մեկն ունի քրոմոսոմային անոմալիա, բացի այդ երեխաների 95%-ը մահանում է մինչև ծնվելը:
Ախտորոշում
Պատաուի համախտանիշը հաճախ ախտորոշվում է ռուտին և կամավոր կատարվող նախածննդյան սքրինինգային հետազոտությունների ժամանակ, ներառելով՝ մոր արյան հետազոտությունները, պտղի ուլտրաձայնային հետազոտությունը, խորիոնիային թավիկներից նմուշառումը և ամնիոցենտեզը։
Եթե հղիության ընթացքում համախտանիշը չի հայտնաբերվում, ապա երեխայի լույս աշխարհ գալուց հետո Պատաուի համախտանիշի ախտանիշներն ակնհայտ են դառնում: Պատաուի համախտանիշը կարելի է շփոթել Էդվարդսի համախտանիշի հետ, ուստի ախտորոշումը հաստատելու համար պետք է կատարվի գենետիկական հետազոտություն:
Պատկերավորման հետազոտություններն, ինչպիսիք են՝ համակարգչային տոմոգրաֆիան (ՀՏ) կամ մագնիսոռեզոնանսային տոմոգրաֆիան (ՄՌՏ), պետք է արվեն գլխուղեղի, սրտի և երիկամների արատները հայտնաբերելու նպատակով: Պետք է կատարվի նաև սրտի ուլտրաձայնային հետազոտություն (էխոկարդիոգրամա)` հաշվի առնելով Պատաուի համախտանիշի ժամանակ հանդիպող սրտի արատների բարձր հաճախականությունը:
Բուժում
Պատաուի համախտանիշի բուժումը կենտրոնանում է այն առանձնահատուկ ֆիզիկական խնդիրների վրա, որոնց հետ ծնվել է յուրաքանչյուր երեխա: Շատ նորածիններ մահանում են առաջին մի քանի օրերի կամ շաբաթների ընթացքում` լրջագույն նյարդաբանական խնդիրների կամ սրտի բարդ արատների պատճառով:
Սրտի արատները, կամ շրթունքի և քիմքի ճեղքվածքները բուժելու համար կարող են հարկավոր լինել վիրահատական միջամտություններ։ Ֆիզիկալ, մասնագիտական և խոսակցական թերապիաները կարող են օգնել Պատաուի համախտանիշով անհատներին հասնել իերնց զարգացման ամբողջ պոտենցիալին։
Հաղթահարում
Եթե ձեր երեխայի մոտ ծնվելուց առաջ ախտորոշվում է Պատաուի համախտանիշ, ապա ձեր բժիշկը ձեզ հետ կքննարկի մի քանի տարբերակներ: Որոշ ծնողներ նախընտրում են ինտենսիվ միջամտությունը, իսկ մյուսները նախընտրում են ընդհատել հղիությունը: Որոշներն էլ չեն ընդհատում հղիությունը և ցուցաբերում են շարունակական խնամք երեխայի ողջ կյանքի ընթացում:
Չնայած երեխայի ապրելու հավանականությունը ծայրաստիճան ցածր է, որոշ ծնողներ որոշում են կատարել ինտենսիվ միջամտություններ՝ երեխայի կյանքը երկարացնելու նպատակով: Այս որոշումները խիստ անձնական են և կարող են ընդունվել միայն ձեր, ձեր զուգընկերոջ և ձեր բժիշկի կողմից:
Աջակցություն
Պատաուի համախտանիշով ծնված երեխայի ծնողները պետք է ստանան գենետիկական խորհրդատվություն՝ պարզելու համար, թե որքան է նրանց մոտ այս համախտանիշով մեկ այլ երեխա ունենալու հավանականությունը: Տեղեկատվության և աջակցության լավ ռեսուրս է Տրիսոմիա 18, 13 և այլ զուգակցվող անոմալիաների աջակցության կազմակերպությունը (S.O.F.T.):
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