Edwards syndrome (trisomy 18): yintoni, iimpawu kunye nonyango

Umxholo

• Yintoni ebangela le syndrome
• Iimpawu eziphambili zesifo
• Indlela yokuqinisekisa ukuxilongwa
• Unyango lwenziwa njani

I-Edwards Syndrome, ekwabizwa ngokuba yi-trisomy 18, sisifo semfuza esinqabe kunene esibangela ukulibaziseka ekukhuleni kwemveku engekazalwa, nesiphumo sokuqhomfa okuzenzekelayo okanye iziphene ezinzima zokuzalwa ezinje nge-microcephaly kunye neengxaki zentliziyo, ezingenakulungiswa kwaye, iminyaka yobomi yosana.

Ngokubanzi, i-Edwards 'Syndrome ixhaphake kakhulu xa umntu ekhulelwe engaphezulu kweminyaka engama-35 ubudala. Ke, ukuba owasetyhini ukhulelwe emva kweminyaka engama-35, kubaluleke kakhulu ukuba kulandelwe rhoqo ukukhulelwa kunye nengcali yokubelekisa, ukuze kuchongwe iingxaki ezinokwenzeka kwangethuba.

Ngelishwa, i-Edwards's syndrome ayinalo unyango kwaye, ngoko ke, umntwana ozelwe ngalesi sifo unempilo ephantsi, engaphantsi kwe-10% ekwazi ukuhlala kude kube ngumnyaka owodwa emva kokuzalwa.

Yintoni ebangela le syndrome

Isifo sikaEdwards sibangelwa kukuvela kweekopi ezi-3 ze-chromosome 18, kwaye kuhlala kukho iikopi ezi-2 zekromosome nganye. Olu tshintsho lwenzeka ngokungahleliwe kwaye, ke, akuqhelekanga ukuba ityala liziphindaphinde kusapho olunye.

Ngenxa yokuba sisifo esingacwangciswanga semfuza, i-Edwards Syndrome ayikho enye into ngaphandle kwabazali ebantwaneni. Nangona siqhelekile kubantwana babasetyhini abakhulelweyo ngaphezulu kwe-35, esi sifo sinokwenzeka nakweyiphi na iminyaka.

Iimpawu eziphambili zesifo

Abantwana abazalwa benesifo sikaEdward ngokubanzi baneempawu ezinje:

• Intloko encinci kunye encinci;
• Umlomo nomhlathi omncinci;
• Iminwe ende kunye nobhontsi ophucukileyo;
• Iinyawo zangqukuva
• Inkalakahla ecwengileyo;
• Iingxaki zezintso, ezinjenge-polycystic, i-ectopic okanye izintso ze-hypoplastic, i-renal agenesis, i-hydronephrosis, i-hydroureter okanye ukuphindaphinda kwe-ureters;
• Izifo zentliziyo, ezinje ngeziphene kwi-ventricular septum kunye ne-ductus arteriosus okanye isifo se-polyvalvular;
• Ukukhubazeka kwengqondo;
• Iingxaki zokuphefumla, ngenxa yotshintsho kulwakhiwo okanye ukungabikho komnye wemiphunga;
• Ubunzima bokuncancisa;
• Ukulila okubuthathaka;
• Ubunzima obuphantsi ngexesha lokuzalwa;
• Inguqu ebuchotsheni enjenge-cerebral cyst, i-hydrocephalus, i-anencephaly;
• Ukukhubazeka ebusweni.

Ugqirha usenokukrokrela i-Edward's Syndrome ngexesha lokukhulelwa, ngokusebenzisa uvavanyo lwe-ultrasound kunye nokuvavanywa kwegazi kuvavanya i-chorionic gonadotrophin, i-alpha-fetoprotein kunye ne-estriol engafakwanga kwi-serum yoomama kwi-1 ne-2 yeenyanga ezintathu zokukhulelwa.

Ukongeza, i-echocardiography yomntwana, eyenziwa kwiiveki ezingama-20 zokukhulelwa, inokubonisa ukukhubazeka kwentliziyo, okukhoyo kwi-100% yamatyala e-Edwards syndrome.

Indlela yokuqinisekisa ukuxilongwa

Ukuchongwa kwesifo sikaEdward kudla ngokwenziwa ngexesha lokukhulelwa xa ugqirha ebona utshintsho oluboniswe apha ngasentla. Ukuqinisekisa ukuxilongwa, ezinye iimvavanyo ezingenayo zingenziwa, njenge-chorionic villus puncture kunye ne-amniocentesis.

Unyango lwenziwa njani

Akukho lonyango luthile lwe-Edwards 'Syndrome, nangona kunjalo, ugqirha unokucebisa amayeza okanye utyando ukunyanga iingxaki ezithile ezisongela ubomi bosana kwiiveki zokuqala zobomi.

Ngokubanzi, umntwana usempilweni enkenenkene kwaye ufuna ukhathalelo oluthile ixesha elininzi, kungafuneka angeniswe esibhedlele ukuze afumane unyango olwaneleyo, ngaphandle kokubandezeleka.

E-Brazil, emva koxilongo, umfazi okhulelweyo angenza isigqibo sokukhupha isisu, ukuba ugqirha uchonga ukuba kukho umngcipheko wobomi okanye ukubakho kwengxaki enkulu yengqondo yomama ngexa lokukhulelwa.