Okuqukethwe
Iyini i-trisomy 18, noma i-Edwards syndrome?
Ngesikhathi sokukhulelwa, i-ovum nesidoda kuyahlangana kube ingqamuzana elilodwa, iqanda-cell. Lona ngokuvamile unikezwa ama-chromosome angu-23 (ukusekelwa kwefa lofuzo) avela kumama, nama-chromosome angu-23 avela kubaba. Sibe sesithola amapheya angu-23 ama-chromosome, noma angu-46 esewonke. Kodwa-ke, kwenzeka ukuthi kukhona okungahambi kahle ekusabalaliseni ifa lofuzo, futhi kwakheka i-trinomial yama-chromosome esikhundleni sepheya. Bese sikhuluma nge-trisomy.
I-Edward syndrome (eqanjwe ngesazi sofuzo esayithola ngo-1960) ithinta i-pair 18. Ngakho-ke umuntu one-trisomy 18 unama-chromosome amathathu 18 esikhundleni samabili.
Isigameko se-trisomy 18 sikhathaza phakathi oyedwa kwabayi-6 abazalwayo noyedwa kwabayi-000, ngokumelene no-1 kwabangu-400 ngokwesilinganiso ku-trisomy 21. Ngokungafani ne-Down syndrome (i-trisomy 21), I-trisomy 18 iphumela ekufeni esibelethweni kuma-95% wamacala, okungenani ngokusho kwe-portal yezifo ezingavamile Intandane.
Izimpawu kanye nokubikezelwa kwe-trisomy 18
I-Trisomy 18 iyi-trisomy enzima, ngenxa yezimpawu ezibangelayo. Izingane ezisanda kuzalwa ezine-trisomy 18 ziba nethoni yemisipha empofu (hypotonia, ebuye idlulele ku-hypertonia), ukusabela okweqile, ubunzima bokuncela, iminwe emide ehambisanayo, ikhala elibheke phezulu, umlomo omncane. Ukukhubazeka kwe-intrauterine kanye nokukhula kwangemva kokubeletha kuvame ukubonwa, kanye ne-microcephaly (umjikelezo wekhanda eliphansi), ukukhubazeka kwengqondo kanye nezinkinga zemoto. Ukukhubazeka kuningi futhi kuvame: amehlo, inhliziyo, uhlelo lokugaya ukudla, umhlathi, izinso kanye nomgudu womchamo... Phakathi kwezinye izinto ezingase zibe yinkinga empilweni, singabala udebe oluqhekekile, izinyawo ezinqenqemeni ezifakwe eqhweni, izindlebe eziphansi, eziboshwe kabi kanye nama-angular (“izilwane”) , i-spina bifida (i-neural tube closure abnormality) noma i-pelvis encane.
Ngenxa yokukhubazeka okukhulu kwenhliziyo, i-neurological, ukugaya ukudla noma izinso, izingane ezisanda kuzalwa ezine-trisomy 18 ngokuvamile ziyafa onyakeni wazo wokuqala wokuphila. Esimeni se-“mosaic” noma “translocation” trisomy 18 (bona ngezansi), ubude bempilo bude, kodwa abudluli ubudala.
Ngenxa yazo zonke lezi zinkinga zempilo ezihlobene nokungajwayelekile kwe-chromosomal, ukubikezelwa kwe-trisomy 18 akukuhle kakhulu: iningi lezingane ezithintekayo (90%) ziyafa ngaphambi kokuba zifinyelele unyaka owodwa, ngenxa yezinkinga.
Qaphela kodwa lokhoukusinda isikhathi eside ngezinye izikhathi kungenzeka, ikakhulukazi uma i-trisomy iyingxenye, okungukuthi lapho amaseli anama-chromosome angu-47 (okuhlanganisa nama-chromosome angu-3 18) ehlala ndawonye namaseli anama-chromosome angu-46, okufaka phakathi ama-chromosome angu-2 18 (i-mosaic trisomy), noma lapho i-chromosome 18 ngaphezu kwalokho ihlotshaniswa nelinye ipheya kune-pair 18 (translocation). Kodwa abantu abafinyelela ebudaleni babe sebekhubazeke kakhulu, futhi abakwazi ukukhuluma noma ukuhamba.
Ungayithola kanjani i-trisomy 18?
I-Trisomy 18 ivame ukusolwa nge-ultrasound, ngokwesilinganiso phakathi nesonto le-17 le-amenorrhea (noma isonto le-15 lokukhulelwa), ngenxa yokukhubazeka kombungu (inhliziyo kanye nobuchopho ikakhulukazi), ukukhanya kwe-nuchal kukhulu kakhulu, ukukhubazeka kokukhula ... Qaphela ukuthi i-serum izimpawu ezisetshenziselwa ukuhlola i-trisomy 21 ngezinye izikhathi azivamile, kodwa lokhu akunjalo ngaso sonke isikhathi. Ngakho-ke i-Ultrasound ivuna kakhulu ekuxilongeni kwe-trisomy 18. I-karyotype yengane (ukuhlelwa kwawo wonke ama-chromosome) bese yenza kube nokwenzeka ukuqinisekisa noma cha i-Edwards syndrome.
I-Trisomy 18: yikuphi ukwelashwa? Yikuphi ukusekela?
Ngeshwa, akukho ukwelashwa kuze kube manje ukwelapha i-trisomy 18. Ngokusho kwesayithi Intandane, ukwelashwa kokuhlinzwa kokukhubazeka akuguquli kakhulu ukubikezela. Ngaphezu kwalokho, okunye ukonakala kunjengokungathi ngeke kuhlinzwe.
Ngakho-ke ukuphathwa kwe-trisomy 18 kuqukethe ngaphezu kwakho konke ukunakekelwa okusekelayo nokunethezeka. Umgomo uwukuthuthukisa izimpilo zezingane ezithintekile ngangokunokwenzeka, nge-physiotherapy ngokwesibonelo. Ukungena komoya okwenziwayo kanye neshubhu lesisu kungafakwa ukuze kube nomsoco ongcono kanye nomoya-mpilo. Ukuphatha kwenziwa ithimba lezokwelapha lemikhakha eminingi.