I-Edwards syndrome (i-trisomy 18): kuyini, izici nokwelashwa

-Delile

• Yini ebangela lesi sifo
• Izici eziyinhloko zesifo
• Ungakuqinisekisa kanjani ukuxilongwa
• Yelashwa kanjani

I-Edwards Syndrome, eyaziwa nangokuthi i-trisomy 18, yisifo sofuzo esingavamile kakhulu esidala ukubambezeleka ekukhuleni kombungu, okuholela ekukhipheni isisu okuzenzekelayo noma ukukhubazeka okunzima kokuzalwa okufana nezinkinga ze-microcephaly nezinhliziyo, ezingenakulungiswa futhi, ngakho-ke, kwehle isikhathi sokuphila kwengane.

Ngokuvamile, i-Edwards 'Syndrome ivame kakhulu ekukhulelweni lapho owesifazane okhulelwe engaphezu kweminyaka engama-35 ubudala. Ngakho-ke, uma owesifazane ekhulelwa ngemuva kweminyaka engama-35 ubudala, kubaluleke kakhulu ukuthi kulandelwe njalo ukukhulelwa nodokotela obelethisayo, ukuze kutholakale izinkinga ezingaba khona kusenesikhathi.

Ngeshwa, i-Edwards 'syndrome ayinakhambi ngakho-ke, ingane ezalwa nalesi sifo inesikhathi esiphansi sokuphila, ngaphansi kuka-10% ikwazi ukusinda kuze kube unyaka owodwa ngemuva kokuzalwa.

Yini ebangela lesi sifo

I-Edwards 'syndrome ibangelwa ukuvela kwamakhophi ama-3 e-chromosome 18, futhi kuvame ukuba namakhophi ama-2 kuphela we-chromosome ngayinye. Lolu shintsho lwenzeka ngokungahleliwe futhi, ngakho-ke, akuvamile ukuthi icala liziphinde ngaphakathi komndeni ofanayo.

Ngoba kuyisifo esingahleliwe ngokuphelele sezakhi zofuzo, i-Edwards Syndrome ayilutho ngaphandle kwabazali ezinganeni. Yize kuvame kakhulu ezinganeni zabesifazane abakhulelwa ngaphezu kweminyaka engama-35, lesi sifo singenzeka noma ngasiphi isikhathi.

Izici eziyinhloko zesifo

Izingane ezizalwa zine-Edwards syndrome ngokuvamile zinezici ezifana nokuthi:

• Ikhanda elincane nelincane;
• Umlomo nomhlathi omncane;
• Iminwe emide nesithupha esingakhuli kahle;
• Izinyawo ezizungezile zodwa;
• Ulwanga olucwebile;
• Izinkinga zezinso, njenge-polycystic, i-ectopic noma izinso ze-hypoplastic, i-renal agenesis, i-hydronephrosis, i-hydroureter noma ukuphindwa kwama-ureters;
• Izifo zenhliziyo, njengokukhubazeka ku-ventricular septum kanye ne-ductus arteriosus noma isifo se-polyvalvular;
• Ukukhubazeka kwengqondo;
• Izinkinga zokuphefumula, ngenxa yezinguquko zesakhiwo noma ukungabikho kwelinye lamaphaphu;
• Kunzima ukuncela;
• Ukukhala okubuthakathaka;
• Isisindo esiphansi ngesikhathi sokuzalwa;
• Ukuguqulwa kobuchopho njenge-cerebral cyst, i-hydrocephalus, i-anencephaly;
• Ukukhubazeka ebusweni.

Udokotela angahle asole i-Edward's Syndrome ngesikhathi sokukhulelwa, ngokusebenzisa ukuhlolwa kwe-ultrasound nokuhlolwa kwegazi okuhlola i-chorionic gonadotrophin yabantu, i-alpha-fetoprotein kanye ne-estriol enganqandeki ku-serum yomama ku-1 no-2 trimester wokukhulelwa.

Ngaphezu kwalokho, i-echocardiography ye-fetus, eyenziwe emasontweni angama-20 okukhulelwa, ingakhombisa ukukhubazeka kwenhliziyo, okukhona ezimweni eziyi-100% zamacala e-Edwards syndrome.

Ungakuqinisekisa kanjani ukuxilongwa

Ukuxilongwa kwe-Edwards syndrome kuvame ukwenziwa ngesikhathi sokukhulelwa lapho udokotela ebona izinguquko eziboniswe ngenhla. Ukuqinisekisa ukuxilongwa, kungenziwa ezinye izivivinyo ezihlasela kakhulu, njenge-chorionic villus puncture kanye ne-amniocentesis.

Yelashwa kanjani

Akukho ukwelashwa okuqondile kwe-Edwards 'Syndrome, noma kunjalo, udokotela angancoma ukwelashwa noma ukuhlinzwa ukwelapha ezinye izinkinga ezisongela impilo yengane emasontweni okuqala okuphila.

Ngokuvamile, ingane inempilo ebuthakathaka futhi idinga ukunakekelwa okuqondile isikhathi esiningi, ngakho-ke kungadingeka ukuthi ingeniswe esibhedlela ukuze ithole ukwelashwa okwanele, ngaphandle kokuhlupheka.

EBrazil, ngemuva kokuxilongwa, owesifazane okhulelwe angenza isinqumo sokukhipha isisu, uma udokotela ekhomba ukuthi kunengozi yokuphila noma kungenzeka ukuba nezinkinga ezinkulu ezingokwengqondo zomama ngesikhathi ekhulelwe.