I nausen piang lai chungchang doctor nena inbiaknaah "Trisomy 18" tih ang chi thumal hriat loh i hriat hian hlauhna leh lungkhamna nasa tak i neih hi thil pangngai a ni. Hei hi eng ang dinhmun nge ni a, engvangin nge hetiang hi a lo awm a, ka lam atanga thil dik lo tak tak ka rilruah a lo lang em? Lungngai suh. Vawiin hian Trisomy 18 an tih dinhmun hi awlsam takin i hrethiam ang u, kan thianpa nen kan inbia ang maiin.
Trisomy 18 hi eng nge ni tak tak?
A awlsam zawngin sawi ila, trisomy 18 hi kan taksaa genetic information kengtu chromosome-te harsatna avanga lo awm a ni. Hei hi a hming dang chu Edwards syndrome , he natna sawi hmasak ber doctor chawimawina atan a ni.
Kan taksa hi building lian tak angin han ngaihtuah teh. He building sakna tur blueprint hi chromosome an tih lehkhabu ang chi thilah hian a awm a ni. Heng lehkhabu chhunga gene awmte hi kan taksa peng tinreng, kan sam rawng atanga kan thinlung hnathawh dan thlengin engtin nge a lo thanglian tur tih hriattirna a ni.
A tlangpuiin naupang hrisel chuan nu hnen atangin chromosome 23 a dawng a, a pa hnen atangin chromosome 23 a dawng bawk. A vaiin 46. Chungte chu pahnih pahniha dah a ni. Chu chu chromosome 1 copy pahnih, chromosome 2 copy pahnih, leh a dangte, 23 thleng a awm tihna a ni.
Mahse, trisomy 18-ah chuan chromosome 18 copy pahnih pangngai aiah chuan naute cell-ah hian extra copy, chu chu copy pathum a awm a ni. "Tri" tih hi pathum tihna a ni. Chuvangin "trisomy 18" tih a ni. He extra chromosome hian naute taksa peng tam tak thanna kawngah thil danglam chi hrang hrang a thlen thei a ni.
Trisomy 18 chi hrang hrang a awm em?
Ni e, chi thum a awm ber a:
1. Full Trisomy 18 : Hei hi a tam ber a ni. Hetah hian naute taksaa cell tin hian extra 18th chromosome an nei vek a.
2. Partial Trisomy 18: Hei hi a tlem hle. Extra chromosome kimchang tak ai chuan extra chromosome 18 a\anga a \hen chauh chu cell-ah hian a awm a ni. He extra part hi chromosome dang (translocation) ah pawh a inzawm thei bawk.
3. Mosaic Trisomy 18: Hei pawh hi thil awm lo tak a ni. Hetah hian naute taksa chhunga cell thenkhat chauh hian extra chromosome an nei a. Cell dangte chu a normal vek a ni. Cell hrang hrang mosaic tiles ang maia inzawm khawm ang mai a ni.
Hetiang dinhmun hi engtiang chiahin nge a awm?
Chromosomal disorder langsar ber pahnihna chu trisomy 18 a ni a, a hmasa ber chu hriat lar tak Down syndrome , a nih loh leh trisomy 21 a ni.
Statistics atanga a lan dan chuan naute piang 5,000 zinga pakhat velin trisomy 18 an vei thei a, heng zinga report tam ber chu hmeichhia an ni. Mahse, a takah chuan nausen tam zawk chu he natna hian a nghawng a ni. Mahse, he natna nena inzawm harsatna hi a nasat avangin a tam zawkah chuan chu naute chu naupai laiin nausen pum chhungah an bo thin.
Naupang trisomy 18 vei hian eng natna nge a neih?
Trisomy 18 vei naute piangte hi an te hle a , an chak lo hle bawk . Hriselna lama harsatna lian tak tak leh taksa inthlak danglamna engemaw zat an nei thei a ni. Chung zinga ṭhenkhat chu a hnuaia table-ah hian tarlan a ni.
| Taksa peng pakhat | Hmuh theih symptoms te |
|---|---|
| Lu leh hmai | Lu pangngai aia te zawk (microcephaly), hmui te tak te (micrognathia), beng low-set, leh cleft palate. |
| Kut leh ke | Kut inzawm (kut zungtang inzawm), ke rocker-bottom. |
| Thinlung | Thinlung chamber inkarah khur (atrial septal defect emaw ventricular septal defect emaw) a awm. |
| Organ dangte pawh a awm | Lung, kidney, leh pum/intestinal lama harsatna nei te. |
| A dinhmun tlangpui | Hmasawn hi a hniam hle.(a thang chak lo), chaw ei harsatna, tap chak lo, leh finna leh hmasawnna nasa tak a tlai. |
Eng thilin nge hei hi a thlen? Tute nge hlauhawma awm?
Hei hi nu leh pa tam takin zawhna an zawh thin chu a ni. "Hei hi ka sualna a ni em?"
Trisomy 18 hi nu leh pa sual vang emaw, ei leh in emaw, nungchang emaw avanga lo awm a ni lo tih hi hrethiam rawh u. Egg emaw sperm emaw a lo awm chuan random chromosome division error a ni. A veng tur hian engmah tih theih a awm lo.
Mahse, heng chromosomal defects te hi nu kum upat deuh deuh (a bik takin kum 35 hnuah) a sang chho ve deuh a ni . Mahse, nu kum eng pawha trisomy 18 nei fa a nei thei.
Trisomy 18 vei naupang i neih tawh chuan i naupai leh hunah he natna hi i neih theihna chance chu 0.5% leh 1% inkar a ni. Mahse, nangmah emaw i kawppui emaw hian partial trisomy 18 thlentu genetic change (translocation) i neih chuan a hlauhawmna a sang zawk thei. Hemi chungchangah hian doctor nen inbiakna neih a pawimawh hle a, a tul chuan genetic counselor hmuh a pawimawh hle.
Hei hi naupai lai hian hmuhchhuah theih a ni em?
Ni e, a theih ngei ang. Doctor chuan nu hnen atangin thisen sample a la hmasa ang ( screening test ). Hei hi 100% a chiang thei lo mahse, naute hian chromosomal defect trisomy 18 ang chi a neih theihna chance a sang zawk em tih a hriat theih.
He test hian risk a awm tih a hriat chuan thil awmdan finfiah nan test dang a awm leh thin.
- Chorionic Villus Sampling (CVS): Naupai tan tirh (kar 10-13) chhungin nausen (placenta) sample te tak te lak a, test a ni.
- Amniocentesis: Kar 15 hnuah naute chhehvel amniotic fluid sample lak a ni a, test a ni.
Heng test pahnihte hian naute chromosome dik takin a chhiar thei a, trisomy 18 an neih leh neih loh chu chiang takin a nemnghet thei bawk.
Hei bakah hian kar 12 hnua ultrasound scan tih hian naute than dan, thinlung pianzia leh a ke leh ke awmna te enin he natna chungchangah hian rinhlelhna a siam thei bawk.
Enkawlna a awm em? Naupang hmalam hun chu eng nge ni?
Hei hi sawi tur thupui sensitive tak a ni. Trisomy 18 hi damdawi a la awm lo . Hei hi a chhan chu naute taksa cell tinah a awm thin genetic change a nih vang a ni.
Amaherawhchu, enkawl loh vangin naupang tan engmah tih theih a ni lo tihna erawh a ni lo. Naupang chu a nuam thei ang bera a awm theih nan leh a hausa thei ang bera a awm theih nan supportive care pek theih a ni.
- Thil thenkhat, thinlung chhiatna ang chi surgery.
- Damdawi mamawh pek.
- Bawnghnute in harsatna a awm chuan feeding tubes.
- Thâwk lama harsatna awmte tanpui.
Nu leh pa \henkhat chuan an fate chu hrehawm taka enkawl ai chuan, hun rei lote chhung, hmangaihna leh duhawmna nen, hahdam taka awmtir an thlang zawk thin. Hei hi comfort care an ti a . Heng thutlukna siamte hi mimal tak a ni. Heng duhthlan tur zawng zawng hi doctor nen zalen taka sawiho a pawimawh hle.
Vanduaithlak takin he natna nena lo awm hriselna lama harsatna lian tak tak avang hian naupang tam tak chuan dam rei lo tak an nei thin. Nausen piang zawng zawng zinga a chanve vel chu kar hmasa chhungin an thi vek a ni. 10% aia tlem lo chu an piancham hmasa ber lawm turin an nung. Nausen damchhuakte pawh hian damdawi lam enkawlna an mamawh reng a ni.
Hetiang naupang enkawl hi nu leh pate tan chuan rilru leh taksa lamah a hahthlak thei a, chuvangin he zinkawngah hian nangmah leh i chhungte tanpui tur i neih a pawimawh hle.
Take-Home Thuchah a ni
- Trisomy 18 hi chromosome number 18 copy extra neih avanga genetic condition a ni.
- Hei hi nu leh pa sual vang a ni lo . Random genetic defect a ni.
- He natna hi naupai laiin scan leh thisen test bik hmangin hriat theih a ni.
- He natna hi damdawi chiang tak awm lo mah se, naupang tan hahdamna pe thei tur supportive care methods a awm a ni.
- Hetiang dinhmun hmachhawn mek nu leh pate tan chuan doctor, counselor leh chhungkaw member dangte hnen atanga rilru lam puihna dil a pawimawh hle. Eng thil pawh i doctor nen inhawng takin sawi rawh.











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