Trisomy 13, 18, 21

Cudurka Down Syndrome, Edwards iyo Patau, ama trisomy 21, 18, 13, siday u kala horreeyaan? Sheekooyinka murugada leh ee haweenka uurka leh. Sababtoo ah tani maaha wax ka badan xanuunada hidda, kuwaas oo maanta, hooga, aan la daweyn karin.

Maxay yihiin sababaha cudurkan iyo waxa khatarta u leh in cunug qaba cudurka trisomy ee 21 18 18 kromosome - aynu isku dayno inaan ogaano.

Pathophysiology ee Cudurada

Noocyada ugu caansan ee hidda-socodka - trisomy 13, 18, ama 21 koromosoomyada ayaa ka soo baxa si qaldan u qaybinta qalabka hidaha ee nidaamka qaybta unugyada. Si kale hadii loo dhigo, uur-jiifku wuxuu waalidka ka dhaxlaa halkii laba-koromosoomka loo qoray, halka nuqul dheeraad ah oo ah 13, 18 ama 21 koromosoom ay ka hortagaan horumarka maskaxda iyo koritaanka jirka.

Sida laga soo xigtay tirakoobyada, trisomy on chromosome 21 (Cider's Downing) wuxuu dhacaa inta badan inta badan trisomy on chromosomes 13th iyo 18. Iyo rajada nolosha ilmaha ee ku dhasha cudurka Patau iyo Edwards, sida caadiga ah, waa ka yar tahay hal sano. Inkastoo siddeedda nuqul ee saddexda nuqul ee koromosoomka 21-aad ku noolaanayaan da 'wayn.

Laakiin xaalad kasta, carruurta qaba cilladaha la midka ah ee aan la mid noqon karin xubnaha bulshada oo dhan, waxaan dhihi karnaa inay kudoonayaan kali ah iyo silica. Sidaa daraadeed, haweenka uurka leh, ka dib markii ay sameeyeen baaritaanka biyokojiinka, waxay heleen khatar sare oo khatarta trisomy 13-kii, 18-aad, kromosome 21, waxaa lagu sii baari doonaa. Haddii cudurka la xaqiijiyo, waxaa laga yaabaa in lagu weydiisto inay joojiyaan uurka.

Trisomy 21 18 13: Fasiraadda falanqaynta

Khatarta ah in cunug qaba trizomy ee 21, 18, ama 13aad ee koromosoomku uu kordho mararka uu jiro da'da hooyada, laakiin tan lagama saari karo gabdhaha da'da yar. Si loo yareeyo tirada carruurta ku dhalatay cuduradan, saynisyahannadu waxay sameeyeen habab baaritaan oo khaas ah oo u oggolaanaya inuu mid ka shakiyo in wax qalad u yahay xilliga uurka.

Marka ugu horeysa ee cudurka dabiiciga ah, hooyooyinka mustaqbalka, dhakhaatiirta ayaa si adag loogu talinayaa in ay qaataan imtixaanada baaritaanka, gaar ahaan, baaritaanka saddexlaha ah. Laga soo bilaabo 15-20 usbuuc, haweenku waxay bixisaa tijaabo dhiig ah, taas oo ay ku xiran tahay heerka uu yahay: AFP (alpha-fetoprotein), estriol, hCG iyo inhibin-A. Dambe waa calaamad muujinaysa horumarka iyo xaaladda caloosha.

Si loo dhiso khatarta cudurka trisomy ee 21, 18, 13 kromosome, caadooyinka da'da ah waxay isbarbardhigaan tilmaamaha la helay. Waxaa la ogyahay in dumarku ay halis ugu jiraan inay yeeshaan cilladda Down syndrome-ka:

Tusaale ahaan, haddii natiijada baaritaanka ee haweeney 38 jir ah ay tahay 1:95, taasi waxay muujineysaa khatarta sii kordheysa iyo baahida loo qabo baadhitaan dheeraad ah. Cilmi-baaris kama dambays ah, hababka sida xoqitaanka xinjirta , amniocentesis , cordocentesis, placentocentesis ayaa loo isticmaalaa.

Ku tiirsanaanta kordhinta khatarta haysashada carruurta leh trizomy 13, 18, iyada oo ku xiran da'da hooyada, ayaa sidoo kale la raadraacey, laakiin way ka yar tahay marka laga hadlayo kiisaska trisomy 21. 50%, isbedelka ayaa lagu sawiraa inta lagu jiro ultrasound. Khabiirka takhasuska leh, ma fududa in la go'aamiyo Edwards ama Patau syndrom qaababka dabeecadda.