I-Trisomy 18

Wonke umuntu uyazi ukuthi impilo yomuntu ixhomeke kakhulu kwiqoqo lama-chromosomes aphakathi kwezibambisene esakhiweni se-DNA yabantu. Kodwa uma kunezinye zazo, isibonelo 3, lokhu kwenzeka ngokuthi "trisomy." Kuye ngokuthi yiliphi ukwanda okwenziwe okungenakwenzeka, lesi sifo sabizwa futhi. Ngokuvamile le nkinga ibonakala ngo-13, 18 no-21.

Kulesi sihloko, sizokhuluma nge-trisomy 18, ebizwa ngokuthi i-Edwards syndrome.

Indlela yokuthola i-trisomy ku-chromosome 18?

Ukuthola ukuphambuka okunjalo ekuthuthukiseni ingane ezingeni lesisindo, njenge-trisomy 18, kungenziwa kuphela ngokuhlola ngezikhathi ezingu- 12-13 namaviki angu- 16-18 (cabanga ukuthi usuku ludluliselwa evikini eli-1). Ihlanganisa ukuhlola igazi kwegazi kanye ne-ultrasound.

Ingozi yengane ene-trisomy 18 enganeni ngokuphambuka okungaphansi kokubaluleka okuvamile kwe-hormone b-hCG yamahhala (i-griadotropin yomuntu ye-chorionic) inqunywa. Isonto ngalinye, inkomba ihlukile. Ngakho-ke, ukuthola impendulo eqinisile kakhulu, udinga ukwazi ncamashi isikhathi sokukhulelwa kwakho. Ungagxila emazingeni alandelayo:

Ezinsukwini ezimbalwa emva kokuvivinywa, uzothola umphumela lapho kuzoboniswa khona, yikuphi amathuba akho okuba ne-trisomy 18 nezinye izinto ezingavamile ebusweni. Zingaba ziphansi, ezijwayelekile noma eziphakeme. Kodwa lokhu akulona ukuxilongwa okucacile, njengoba kutholakala izinkomba ezilandelwayo zezibalo.

Uma ubungozi obukhulu, kufanele uthintane nesifo sezakhi zofuzo ozobeka ucwaningo olunzulu ukuze kunqunywe ukuthi zikhona yini noma azikho ukwehluka kweqoqo lama-chromosomes.

Izimpawu ze-trisomy 18

Ngenxa yokuthi ukuhlolwa kuyisisekelo esisekelwe emalini futhi ngokuvamile kunika umphumela oyiphutha, hhayi bonke abesifazane abakhulelwe abakwenzayo. Khona-ke ukutholakala kwe-Edwards syndrome enganeni kungenqunywa ezinye izibonakaliso zangaphandle:

1. Ukukhula kwesikhathi sokukhulelwa (amasonto angu-42), lapho umsebenzi ophansi we-fetal kanye nama-polyhydramnios atholakala khona.
2. Lapho ezalwa, ingane inesisindo esincane (2-2.5 kg), isakhiwo sekhanda esiyingqayizivele (i-dolichocephalic), isakhiwo sombuso esingavamile (ikhanda eliphansi, amasongo omzimba omncane nomlomo omncane), nezintambo ezifakwe eminwe kanye neminwe edwengulayo.
3. Ukukhubazeka kwamalungu nezitho zangaphakathi (ikakhulukazi inhliziyo) kubonakala.
4. Njengoba izingane ezine-trisomy 18 zinezinkinga ezingavamile zokuthuthukiswa ngokomzimba, zihlala isikhathi esifushane (ngemva kweminyaka eyi-10 nje kuphela ku-10% yazo).