Trisomy 18

Wonke umntu uyazi ukuba impilo yabantu ixhomekeka kakhulu kwiisethi ze-chromosomes ezifumaneka zibini kwi-DNA yabantu. Kodwa ukuba kukho ezinye zazo, umzekelo 3, ngoko le nto ibizwa ngokuthi "trisomy." Ngokuxhomekeke kwinqanaba elongezelelweyo elingeke lenzelwe ukuba lenzeke, lesi sifo sabizwa kwakhona. Ngokuqhelekileyo le ngxaki ivela kwi-13, 18 neyesibini.

Kule nqaku, siza kuthetha nge-trisomy 18, ebizwa ngokuba ngu-Edwards syndrome.

Indlela yokufumana i-trisomy kwi-chromosome 18?

Ukufumanisa ukuphambuka okunjalo ekuphuhlisweni komntwana kwizinga lomzimba, njenge-trisomy 18, kunokuthi kwenziwe kuphela ngokuphonononga kwi- 12-13 nakwiiveki ezingama- 18 ukuya kwe- 18 (cinga ukuba umhla udluliselwe kwiveki e-1). Iquka ukuhlolwa kwegazi kunye ne-ultrasound.

Umngcipheko womntwana ophethe i-trisomy 18 kumntwana ngenxa yokuphambuka okungaphantsi kwexabiso eliqhelekileyo le-hormone b-hCG yamahhala (i-chorionic gonadotropin) yenziwa. Kwiveki nganye, uphawu luhlukile. Ngoko ke, ukuba ufumane impendulo enyanisekileyo, kufuneka ukwazi kakuhle ixesha lokukhulelwa kwakho. Unokugxila kwimilinganiselo elandelayo:

Kwiintsuku ezimbalwa emva kokuvavanywa, uya kufumana umphumo apho kuya kuboniswa khona, yintoni inokwenzeka ukuba ube ne-trisomy 18 kunye nezinye izinto ezingaqhelekanga kumntwana. Zingaba ziphantsi, eziqhelekileyo okanye eziphakanyisiweyo. Kodwa oku akusikho ukuxilongwa ngokucacileyo, kuba iikholeji ezibonakalayo zifumaneke.

Xa usengozini enkulu, kufuneka uqhagamshelane nomfuzo wezofuzo oza kubeka umphando ogqithiseleyo ukuze aqinisekise ukuba ngaba kukho okanye akukho mpazamo kwi-kromosomes.

Iimpawu ze-trisomy 18

Ngenxa yokuba ukuhlolwa kuyisiseko-mali kwaye kaninzi kunika iziphumo eziphosakeleyo, kungekhona bonke abafazi abakhulelweyo abakwenzayo. Emva koko ubukho be-Edwards syndrome kumntwana bunokumiselwa ezinye iimpawu zangaphandle:

1. Ukunyuka kwexesha lokukhulelwa (iiveki ezingama-42), ngexesha apho umsebenzi ophantsi we-fetal kunye ne-polyhydramnios zafunyaniswa.
2. Ekuzalweni, umntwana unomzimba omncinci (2-2.5 kg), isakhiwo sekhanda esiqhelekileyo (i-dolichocephalic), isakhiwo somntu esingaqhelekanga (ubuso obuphantsi, iintloko ezisezantsi kunye nomlomo omncinci), kunye neminwe eneenkcukacha kunye neminwe evulekileyo.
3. Ukuguqulwa kwamalungu kunye nokungaziphathi kwamalungu angaphakathi (ingakumbi intliziyo) ziyabonwa.
4. Ekubeni abantwana abane-trisomy 18 banempilo engafanelekanga yophuhliso, baphila ixesha elifutshane (emva kweminyaka eyi-10 kuphela i-10% yazo ihlala).