I-Down Syndrome yenye yeengxaki eziqhelekileyo zofuzo. Kuyenzeka kwinqanaba lokubunjwa kwe-oocyte okanye i-sperm okanye ngexesha le-fusion ngexesha lokuchumisa. Ngaphezu koko, umntwana unomdla ongaphezulu kwe-chromosome engama-21 kwaye ngenxa yoko, kwiiseli zomzimba akukho 46, njengoko kulindeleke, kodwa ngama-chromosomes angama-47.
Indlela yokuchonga i-Down's syndrome ngexesha lokukhulelwa?
Kukho iindlela ezininzi zokujonga i-Down syndrome ngexesha lokukhulelwa. Phakathi kwazo - iindlela ezingenayo, i-ultrasound, ukuhlola ukukhulelwa . Ngokuqinisekileyo, i-Down's syndrome iyakwazi ukufunyanwa kwi-fetus kuphela ngoncedo lweendlela eziphazamisayo:
- i-chorionic biopsy kwiiveki 10-12 - isiphumo senziwa emva kweentsuku ezimbalwa. Nangona kunjalo, le nkqubo inobungozi kuba inokubangela ukuphuphuma komzimba ngokukhawuleza kwi-3% yamatyala;
- i-placentocentosis kwiiveki ezi-13 ukuya kwe-18 - umphumo uza kuxelwa kuwe emva kweentsuku ezimbalwa. Umngcipheko weengxaki zifana-3-4% amatyala aphela ekuphumuleni kokungahambi kakuhle;
- i-amniocentesis kwiiveki ezingama-17 ukuya kweye-22 - kule meko ingozi yokuphuphuma kwesisu i malunga ne-0.5%;
- I-Cordocentesis kwiiveki ezingama-21 ukuya kwe-23 - 1-2% yamatyala aphela ekuphumuleni komzimba.
Ukuba ngethuba lokusetyenziswa kwe-Down's syndrome, kubakho ukuphelisa ukukhulelwa kwiiveki ezingama-22.
Ewe, umngcipheko wokuphuphuma kwesisu ngokukhawuleza - inkokhelo engathandekiyo yokwenene, ngakumbi ukuba kuvela ukuba umntwana ulungile. Ngoko ke, akuyiyo yonke into isombululwe ngenxa yeendlela ezinjalo. Ngesilinganiso esithile sokungenzeka, i-Down's syndrome inokugwetywa ngeziphumo ze-ultrasound study.
I-ultrasound ye-fetus ene-Down syndrome
Izibonakaliso ze-Down's syndrome emntwaneni ngexesha lokukhulelwa kunzima ukuzimisela ngoncedo lwe-ultrasound, ekubeni isifundo esinjalo sivumela ukuba sikwazi ukunyaniseka ngezinga eliphezulu lokuthembeka ngokucacileyo nje ukuphazamiseka kwemithi yesifo. Nangona kunjalo, kukho inani lamakishi apho ugqirha unokukrokrela ukuba umntwana ufumana i-chromosome eyongezelelweyo. Kwaye ukuba xa uviwo lwe-fetus luneempawu ze-Down's syndrome, ukufunda kwabo ngokubanzi kuya kunceda ukudibanisa umfanekiso obanzi kunye nokuqinisekisa i-trisomy 21 ngamathuba athile.
Ngoko, ezi zinto ziquka:
- Ukwandiswa kwendawo yekhola (ubukhulu obukhulu bentambo yomlomo wesibeleko okanye ukuqokelela kwamanzi angaphantsi kwintamo yentlungu). Ngokuqhelekileyo, eli pharamitha akufanele lidlule ngaphezu kwe-2.5 mm ukuhlolwa kwezesondo kunye no-3 mm ukuhlolwa ngodonga lwesisu. Uphononongo olunjalo luqhutywa kwiiveki ezi-10 ukuya ku-13;
- ubude bamathambo empumlo we-fetus - ichongiwe kwi-trimester yesibini. I-Hypoplasia yamathambo emasipha ikhona kuwo wonke umntwana wesi-2 one-Down syndrome;
- bladder;
- ityhuna maxillary enciphise;
- i-tachycardia ephakathi (ngaphezulu kwama-170 beats ngomzuzu);
- ukuphulwa komtshini wokutshatyalaliswa kwegazi kwindawo yokuhamba.
Ukuba ufumene enye okanye impawu ezininzi kwi-ultrasound, oku akuthethi ukuzalwa kwepesenti yomntwana one-Down syndrome. Uyacetyiswa ukuba ungene kwelinye leemvavanyo zelabhoratri ezichazwe ngasentla, xa ibhinqa elisendongeni lomzimba lithatha izinto eziphilayo.
I-ultrasound inolwazi oluninzi kwixesha leiveki ezili-12 ukuya kwe-14 - ngeli xesha le ngcali ingakwazi ukuchonga ngokuthe ngqo umgangatho wengozi kwaye uncede ukuthatha amanyathelo afanelekileyo.
Ukuhlolwa kwe-Down's syndrome - ingxelo
Enye indlela yokufumanisa i-Down's syndrome ekukhulelweni kukuhlolwa kwegazi kwindoda ekhulelwe ethathwe kwi-vein. Uhlalutyo lwabasetyhini abakhulelweyo nge-Down's syndrome kubandakanya ukuzimisela kokugxininisa kwigazi lakhe le-alfa-fetoproteins kunye neHCG yeHM.
I-Alfafetoprotein yiprotheyini eyenziwa ngumprotheyini wesibindi esiswini. Ingena ngegazi lomfazi nge-amniotic fluid. Kwaye inqanaba eliphantsi le protein lingabonisa ukuphuhliswa kwe-Down syndrome. Kucetyiswa kakhulu ukwenza oku kuhlalutyo kwiiveki ezingama-18 ukuya kwe-18.