I naute hian he natna hi a vei em? Edwards Syndrome emaw Trisomy 18 emaw chungchang hi han sawi ila.

Nu nih beisei, emaw, chhungkaw member thar tel tura beisei tan chuan hei hi a sensitive deuhin a lang thei. Amaherawhchu, a chang chuan kan hriat duh loh, mahse hriat a pawimawh em em a awm a. Vawiin hian chutiang dinhmun pakhat chu kan sawi dawn a ni. Chu chu Edwards Syndrome, Trisomy 18 tia hriat bawk, ​​genetic condition na tak a ni.

Edwards Syndrome hi eng nge ni?

A awlsam zawngin, Edwards Syndrome hi naute thanlen leh thanlenna nasa taka tichhe thei genetic condition a ni . Hetiang natna neia piang naute hi an pian tirh atanga an taksa rihna hniam tak neia piang an ni tlangpui. Tin, piansualna chi hrang hrang leh taksa pianphung bik engemaw zat an nei bawk. He thu i hriat hian lungngaihna leh hlauhna i neih hi thil pangngai a ni. Mahse, he thu hi sawi belh leh ila, a tha em?

Edwards Syndrome (Trisomy 18) hi tuin nge vei thei ang?

Dik tak chuan Edwards Syndrome (Trisomy 18) hi tu pawh naute chungah a thleng thei a ni . Random takin a thleng a, chu chu sawi lawk loh a ni tihna a ni a, chu chu naute cell-ah chromosome 18 copy extra hmuh a nih chuan a ni. Mahse, nu chu a upa poh leh, chu chu naupai laiin nu chu kum 35 aia upa a nih chuan, he natna hi a vei theihna a sang zawk tih hmuhchhuah a ni Mahse hre reng ang che, naupang pakhatin he natna hi a neih chuan naupang dangin a neih theihna chance a hniam hle (1% aia tlem) a ni.

Edwards Syndrome (Trisomy 18) hi eng chen nge a hluar?

He natna, Edwards Syndrome (Trisomy 18) hi nau piang nung 5,000 atanga 6,000 zinga pakhat vel ah a awm thin . Mahse, naupai lai hian he natna hi a tam zawk deuh a, naupai 2,500 zinga pakhat velin a awm thin. Lungchhiatthlak takin, he natna hmuhchhuahna nena inzawm harsatnate hian nausen chu nausen pum chhungah a bo (nau pai) emaw, nau piang thi emaw a thlen fo .

Engtik lai khan nge Edwards Syndrome (Trisomy 18) hi hmuhchhuah a nih?

He natna hi Edwards syndrome (Trisomy 18) tia koh a ni a, kum 1960 khan John Hilton Edwards leh a team te chuan an hmuchhuak hmasa ber a ni. Nausen piang thar, pianpui natna chi hrang hrang nei leh rilru lama hmasawnna lama harsatna nei te an zirchian laiin an hmuchhuak a ni. An sawi dan chuan he natna hi chromosome 18 copy pathumna dah belh a nih vang a ni (chuvang chuan trisomy 18 an ti a ni).

Edwards Syndrome (Trisomy 18) natna lan chhuah dante chu engte nge ni?

Naute Edwards syndrome (Trisomy 18) vei chhinchhiahna hi a pian hma leh a pian hnuah hmuh tur a awm tlangpui . A lan chhuah dan ber chu a thang chak lo hle a, nau piangsual tam tak, leh hmasawnna nasa tak a tlai emaw, zir thiam lohna emaw a ni .

Naupai laiin symptoms hmuh theih

I doctor chuan naupai laiin ultrasound scan a neih laiin heng thilte hi a zawng ang:

• Nausen chetna tlemte chauh.
• I umbilical cord hian artery pakhat chauh a nei (a tlangpuiin pahnih a awm).
• Placenta hi a te hle a.
• Piansualna chi hrang hrang awmna.
• Nausen chhehvela amniotic fluid tam lutuk chu ``polyhydramnios'' an ti a.

Edwards Syndrome vei naute ṭhenkhat chu nung chungin piang ni mah se, a tam zâwk chu naupai thla thum hmasa berah an nau pai emaw, an thi emaw ang .

Nau piang hnua symptoms hmuh theih

Naute a pian hnuah Edwards syndrome (Trisomy 18) vei chuan a hnuaia taksa pianphungte hi a nei thei a ni.

• Muscle tone tlahniam (hypotonia) - naute chu a nem hle niin a hria.
• Earlobes set pangngai aia hniam zawk.
• Internal organ (thinlung leh lung ang chi) te hi a insiam tha lo thei a, an hnathawh pawh a danglam thei bawk.
• Intellectual development lama harsatna (a tam zawkah chuan a na hle ).
• Ke ruhte chu a chungah dah khawm leh/ emaw ke ruh inzawm khawm (`(clubfeet)`).
• Taksa, lu, hmui leh hmui te hi a te hle a.
• Tap a hniam hle a .

Edwards syndrome natna lan chhuahna na tak (Trisomy 18) .

Edwards Syndrome (Trisomy 18) vei naute taksa chu a lo thanglian kim loh avangin, he natna hian a nghawng tha lo hle a, a tam zawkah chuan nunna atana hlauhawm tak a ni . Chung zinga ṭhenkhat chu:

• Congenital heart disease leh kal natna.
• Thâwk lama harsatna (respiratory failure).
• Digestive system (`(Gastrointestinal tract)`) leh abdominal wall-a harsatna leh piansualna.
• Hernias (`(Hernias)`) a ni.
• Scoliosis natna (Scoliosis) a ni.

Hei hi han ngaihtuah teh: Edwards Syndrome (Trisomy 18) vei naute zinga 90% vel chuan thinlung natna an nei a. Hei hi heng naute zingah hian a hun hmaa thihna thlentu lian ber a ni a, thawk lama harsatna an tawh hnuah a ni.

Edwards Syndrome (Trisomy 18) hi eng thilin nge a thlen?

A awlsam zawngin, Edwards syndrome (Trisomy 18) hi chromosome 18 copy pathum awm vang a ni a, a tlangpuiin pahnih a awm lo .

Tunah chuan en teh, kan taksaah hian chromosome 46 kan nei vek a, pair 23-ah kan insem a ni. Heng chromosomes te hian kan DNA (kan taksa thanlenna leh hnathawhna atana a mamawh instruction) a awm a. Heng chromosome set khat hi kan nu hnen atangin kan hmu a, pakhat chu kan pa hnen atangin kan hmu bawk.

Cell siam a nih chuan nau neihna (reproductive organs) (mipaah ​​chuan sperm, hmeichhiaah chuan egg)-ah fertilized cell angin an intan hmasa ber a ni. Heng cell te hi an inthen darh a (``meiosis'' an tih process ah) an in copy a, pair an siam thin. Chuta chhuak cell chuan DNA hmasa aiin a chanve vel a nei a, chu chu chromosome 46 zinga 23 a ni. Chromosome pahnih hian number an nei vek a.

Heng chromosome pair te hi egg leh sperm siam laiin an inthen tur a nih chuan a chang chuan chromosome pair pakhat chu a inthen tha lo (thil sticky ang maiin), copy pahnih hi egg emaw sperm khatah an tawp thin. Tichuan, fertilization-ah chuan nu leh pa dang aṭanga copy pakhat chu an zawm a, a vaiin copy pathum an siam . Hetiang chromosome inmil lohna hi random, hriat lawk theih loh a ni a, naupai hma emaw, naupai lai emawa nu leh pate thil tih avanga lo awm a ni lo .

Chromosome pair copy pathumna an dah belh chuan trisomy an ti a. Trisomy tih awmzia chu "taksa pathum" tih ang chi tihna a ni. Edwards Syndrome vei tu emaw chuan an cell-ah chromosome 18 copy pathumna a nei a.

Engtin nge Edwards Syndrome (Trisomy 18) hi hmuhchhuah a nih?

Edwards Syndrome (Trisomy 18) screening hi naupai lai atanga tan thin a ni tlangpui . Naute pian hma emaw, a pian hnu emaw pawhin a diagnosis hi a dik tih finfiah a ni. I doctor chuan ultrasound scan a ti tlangpui ang a, naute che vel, amniotic fluid awm zat leh placenta lian leh te enin Edwards Syndrome (Trisomy 18) chhinchhiahna a zawng ang. Hetiang genetic condition chhinchhiahna hmuhchhuah a nih chuan i doctor chuan a natna hriat chian nan test dang neih belh a rawt ang.

Edwards Syndrome (Trisomy 18) hi eng test nge hman thin?

Naupai lai hian naute hian Edwards Syndrome (Trisomy 18) symptoms a neih chuan doctor chuan a natna hriat chian nan test hrang hrang a rawt thei a, chungte chu:

• Amniocentesis : Naupai atanga kar 15 leh kar 20 inkar ah i doctor chuan amniotic fluid sample te tak te a la ang a, i naute hriselna a hriat theih nan a test ang.
• Chorionic villus sampling (CVS) : Naupai atanga kar 10 leh kar 13 inkar hian i doctor chuan nausen atanga cell sample te tak te a la a, a test a, genetic condition a zawng thin.
• Screenings : Naupai kar 10 hnuah i thisen sample chu i naute hian common extra chromosome conditions, trisomy 18 ang chi a nei em tih enfiah theih a ni.

Naute a pian hnuah doctor chuan naute thinlung chu ultrasound scan hmangin a enfiah ang a, he diagnosis avanga thinlung lama harsatna awm thei awmte chu a hmuchhuak ang a, enkawl turin hma a la ang.

Edwards Syndrome (Trisomy 18) hi engtin nge enkawl a nih?

A tam zawkah chuan he natna hi a nasat em avangin naute nung chunga piangte chu thlamuanna enkawlna pek an ni.. Chu chu naute chu hahdam tak leh natna laka fihlim tura tanpui tihna a ni. Mahse, Edwards Syndrome (Trisomy 18) enkawlna chu naute tin tan a danglam a, chu chu a natna hmuhchhuah nasat dan azirin a ni . Edwards Syndrome (Trisomy 18) hi damdawi a awm lo .

Edwards syndrome (Trisomy 18) enkawlnaah hian hetiang hi a ni thei:

• Lung natna enkawl dan : Edwards syndrome (Trisomy 18) vei naute zawng zawng deuhthaw hi thinlung natnain a vei vek a ni. Naute zawng zawng chu operation an nei vek thei lo nain, ṭhenkhat erawh chuan an ti thei thung.
• Feeding support : Naute Edwards syndrome (Trisomy 18) vei te hian an thanlenna a tlai avangin eitur pangngai ei harsatna an nei thei. Naupan laia chaw pek chungchanga harsatna awmte tanpui turin feeding tube hmanga pek an ngai mai thei.
• Orthopaedic treatment : Naute Edwards syndrome (Trisomy 18) vei te hian hnungzang lama harsatna an nei thei a, chu chu scoliosis ang chi hi a ni. Chungte chuan naute chet dan a nghawng thei a ni. Orthopaedic enkawlnaah hian bracing emaw surgery emaw pawh a tel thei.
• Psychological leh social support : Edwards Syndrome (Trisomy 18) vei naute neih tur chuan nangmah, i chhungte leh i naute tanpuina a ngai a ni. I naute thihna lungngaihna tuar tûrin, a bîk takin i naute i hloh a nih chuan, emaw, i naute’n harsatna a tawh dân (complex diagnosis) i tuar theih nân emaw ṭanpuina i mamawh ang.

Engtin nge ka naute hian Edwards Syndrome (Trisomy 18) a vei theihna tur chu ka tihziaawm theih ang?

Edwards syndrome (Trisomy 18) hi a takah chuan genetic mutation avanga lo awm a nih avangin he natna hi ven theih a ni lo . Mahse, in vitro fertilization (IVF) hmanga genetic testing leh embryo testing (preimplantation genetic testing) i tlin chuan Edwards syndrome (Trisomy 18) nei naute neih theihna chance chu nasa takin i tihtlem thei a ni. Naupai i tum a nih chuan, i doctor nen genetic counseling chungchang sawi la, he genetic condition nei naute neih theihna tur hlauhawm dan i hre thei ang.

Edwards Syndrome (Trisomy 18) nei naupang i neih chuan eng nge thleng?

Edwards Syndrome (Trisomy 18) hi damdawi a awm lo . Naupai tam zawk hi nau pai emaw nau piang thi emaw ah a tawp thin . Naupai pathumna thlenga dam chhuak zingah Edwards Syndrome (Trisomy 18) naute zinga 40% vel chu nau piang an dam lo a, dam chhuak zinga hmun thuma ṭhena hmun khat vel chu nau piang hmasa an ni.

Edwards Syndrome (Trisomy 18) vei nausen piang damchhuah zat chu hetiang hi a ni.

• Kar hmasa berah 60% leh 75% inkar an dam.
• Thla hmasa berah 20% leh 40% inkar an dam.
• 10% aia tam chuan an piancham hmasa ber an hmang lo.

Edwards Syndrome (Trisomy 18) vei naute piangte chu an pian hnu lawkah enkawlna bik an mamawh a , an natna lan chhuahna bik ang zela enkawl a ngai a ni.. Dam theihna chance a hniam hle a, a bik takin naute hian taksa peng hrang hrang a tihkhawtlai emaw, pianpui thinlung natna a neih emaw chuan. An piancham hmasa ber damchhuak 10% zinga naupang ṭhenkhat chuan an chhungte leh enkawltute thlawpna nasa tak nen nun hlim tak an hmang a ni. Mahse, kal leh tawng an zir ngai lo fo.

Engtikah nge Doctor ka hmuh ang?

Naute Edwards syndrome (Trisomy 18) vei chu nu pum chhunga a awm chuan nau pai emaw, naupai hloh emaw a hlauhawm hle. Naupai i nih chuan nau pai tih hriatna i neih chuan doctor pan nghal rawh :

• Pum a na.
• Khawsik i hriat a, khawsik i neih chuan.
• Hnung lam natna.
• A tlangpui aia thisen chhuak nasa zawk (heavy bleeding) i nih chuan.
• Pum hnuai lam natna.

Engtikah nge emergency room-ah ka kal ang?

I naute Edwards Syndrome (Trisomy 18) vei piang hian heng symptoms te hi a neih chuan emergency room-ah hruai nghal la, a nih loh leh 1990 : call rawh :

• I thawk chak lutuk emaw, i thawk slow lutuk emaw, thawk la lo tak tak emaw a nih chuan.
• Vun emaw hmui emaw chu a sen emaw, a sen emaw a nih chuan.
• Lung na a chak hle a nih chuan.
• Ei harsa a nih chuan.
• Taksa pum pui a hring a nih chuan.

Doctor hnenah eng zawhna nge ka zawh ang?

Hetiang dinhmunah hian zawhna tam tak i nei mai thei. I doctor hnenah hetiang thil hi zawt la:

• "Nau genetic condition nei ka neih hian eng risk nge ka neih?"
• "Ka naute symptoms te hi eng treatment nge pek theih ang?"
• "Ka naute hi naupai laiin a hrisel theih nan eng nge ka tih theih ang?"

Edwards Syndrome (Trisomy 18) hmuhchhuah hi thil harsa tak a ni thei. He natna nena inzawm harsatna hi a nasa thei hle. Your doctor will help you and your family through this journey , i naute natna hmuhchhuah chungchang emaw, i naute boralna hmachhawn emaw pawh nise. Naupai i tum a nih chuan, i doctor nen genetic counseling chungchang sawi la, genetic condition nei naute i neih theihna tur i hriat theih nan.

Hriat reng tur pawimawh ber berte (Take-Home Message) .

Okay, chuti a nih chuan, kan sawi tawh thenkhat, i tana pawimawh tur nia ka hriatte chu ka han tarlang teh ang:

• Edwards Syndrome, a nih loh leh Trisomy 18 hi thlahtute aṭanga natna khirh tak a ni .
• Hei hi chromosome 18 extra copy vang a ni a, hei hi thil thleng mai a ni a, nu leh pate sualna a ni lo.
• Hei hi naupai laiin scan leh specialized test dang (`(Amniocentesis)`, `(CVS)`) hmanga hriat theih a ni .
• Hetiang dinhmun hi damdawi a awm lo a , enkawlna hi a natna lan chhuah dan control leh naute hahdam tir tumna a ni.
• Naute tam tak chu an dam rei lo , mahse naupang thenkhat chu an chhungte hmangaihna leh thlawpna nen an dam khawchhuak thin.
• Naupai i nih chuan lehNau pai tih hriatna i lantir a nih chuan doctor thurawn la nghal rawh.
• Hetiang natna hi i vei tih hmuhchhuah a nih chuan nangmah chauh i ni lo . Doctor, chhungte, leh counseling service-te hnen atangin tanpuina la rawh.

He thu hi in tan a tangkai ngei ka beisei. Chutiang thupui sensitive tak tak sawi chu a harsa a, mahse hriat chian a phu hle.

` Edwards Syndrome, Trisomy 18, Genetic Diseases, Chromosomes, Naupai, Naute hriselna, Pianpui chhiatna