Carrier awm thei i ni em? 'Carrier Screening' chungchang hi han sawi ila!

Chhungkaw din i tum em? Nge naute i beisei tawh em? Tichuan he test ‘Carrier Screening’ tih hi i hre chiang tur a ni. Hei hian nangmah kaltlangin i fate hnena rochun natna thenkhat i kai theih dan tur hriat lawk turin a pui thei che a ni. Hemi chungchang hi chipchiar deuhin sawi ila, kan sawi dawn em ni? Chu chuan i chhûngkaw chungchânga thu tlûkna pawimawh tak siam tûrin a ṭanpui ang che.

‘Carrier’ chu eng nge ni tak tak?

A awlsam zawngin, ‘carrier’ chu i taksaa gene , a nih loh leh pathogenic variant ti ila, hriselna dinhmun engemaw nena inzawm, inthlak danglamna tlemte nei mi a ni. Mahse mak tak maiin, a tam zawkah chuan heng carrier-te hian natna chhinchhiahna leh chhinchhiahna engmah an lantir lo . A chhan chu gene tin copy pahnih kan nei a, pakhat chu kan nu atanga pakhat leh kan pa hnen atangin pakhat kan nei a ni. Carrier pakhat chunga thil thleng chu copy pakhatin chhiatna nei mah se, copy hrisel dang chuan a nghawng chu a titawp a ni. Chuvangin natna chu i nei lo. Mahse, i fa hian he genetic defect hi a pass theihna chance a awm a, a bik takin i kawppui pawh hi natna vei ve tho a nih chuan.

He test i neih hian result chu i medical record-ah thuruk takin dah a ni. Chu thu chu i remtihna tel lo chuan tumahin an pe thei lo che. Tin, dan ang chuan health insurance company emaw, i hnathawhna hmun emaw pawhin hetiang genetic test result hi a pangngai lo a nih avangin an thliar hrang thei lo che a, a bik takin a dangin i hrisel a nih chuan.

Carrier screening hi autosomal recessive diseases screening atan hman a ni fo thin. Hei hi scientific term ang maiin a lang thei a, mahse a awlsam zawnga sawi chuan naupangin natna a vei theih nan nu leh pa pahnih hi natna kengtu an nih a ngai a ni. Chumi awmzia chu nu leh pa pahnih hian gene chhia copy pakhat an neih a ngai tihna a ni. Mi tam tak chuan carrier an ni tih pawh an hre lo, a chhan chu an chhungkuaa tumahin he natna hi an nei lo mai thei.

Chu bakah, ‘X-linked’ tih condition group pakhat pawh a awm bawk. Chungte chu X chromosome nen an inzawm tlat a ni. A tlangpuiin hmeichhia (a tlangpuiin XX) hi he natna hi kengtu a ni thei. Mahse, symptoms tlemte emaw, nei lo emaw an nei fo. Hei hi X chromosome pahnih an neih vang a ni. Pakhatah harsatna a awm chuan a dangin a thunun a ni. ‘Fragile X syndrome’ hi chutiang ‘X-linked’ condition pakhat a ni a, ‘Carrier Screening’ panel-ah pawh a tel fo bawk.

Engtikah nge he carrier screening hi tih a nih?

Fa neih i ngaihtuah a nih chuan he ‘Carrier Screening’ hi tihsak a tha. In fact , naupai hmain he test hi tih hmasak phawt a tha ber.. Tichuan, nakin lawka i fate’n thlahtu natna engemaw tak an neih theihna tûr chu i hre lâwk thei ang. Chutianga test i nih chuan chhungkaw din dan hrang hrang ngaihtuah hun i nei a ni. Entir nan:

• Adoption hi fa enkawl dan a ni.
• Donor egg emaw sperm emaw hmanga ‘in vitro fertilization’ (IVF - in vitro fertilization) tih dan lam hawi.
• Preimplantation genetic testing: Hei hian nupa tuak thar leh sperm atanga siam embryo te chu nu nausen pum chhunga an dah hmain an genetic makeup test a ni.

Naupai hmaa hetiang hi i tih theih loh chuan i doctor chuan first trimester chhungin carrier screening test neih tir che a rawt thei ang . Naupai laiin he test hi i tih zawh chuan i naupai chhung zawng i hriselna enkawl dan tur i ruahman thei ang. Naute hriselna hriat chian lehzual nan test dang, amniocentesis emaw chorionic villus sampling (CVS) , te pawh i mamawh thei bawk. I doctor chuan i naute pian hnua mamawh bik a neih theih apiang a ruahman thei bawk.

He test hi tuin nge mamawh tak tak?

Dik tak chuan chhungkaw din tum nupa zawng zawng tan carrier screening ngaihtuah hi a tha hle. A pum puiin, mi pakhat chu genetic condition engemaw kengtu a nih hi thil awmze nei tak a ni. Hnam tam tak chu genetic condition pakhat tal kengtu an nih a rinawm zawk.

A bik takin a hnuaia mite hi carrier nih theihna chance sang zawk an nei thei a ni:

• Chhungkaw zinga mi (naupang hmasa emaw, chhungte emaw) hian genetic disease a neih chuan autosomal recessive emaw X-linked disease emaw pawh nise.
• A nih loh leh, chhungkaw zinga mi tu emaw chu thlahtute natna kengtu nia hriat tawh a nih chuan.

Heng carrier screening test te hi tute nge ti thin?

He ‘Carrier Screening’ test hi heng doctor te kaltlangin i ti thei ang:

• Fertility lama mithiam tak a ni.
• Genetic counselor emaw, damdawi lam geneticist emaw a ni thei.
• Nau neih leh hmeichhia (Gynecologist) (An OB/GYN) a ni.

Carrier screening hmangin eng natna chi hrang hrang nge screening neih thin?

Carrier screening hian autosomal recessive condition tlanglawn tlemte a zawng fo thin. Chung zinga ṭhenkhat chu:

• Cystic fibrosis natna (cystic fibrosis) a awm thin
• Fragile X syndrome (hei hi X nena inzawm a ni) .
• Sickle cell natna a ni
• Tay-Sachs natna a ni
• Thalassemia natna a ni

Expanded Carrier Testing hi eng nge ni?

I duh chuan ‘expanded carrier testing’ pawh i nei thei bawk. Hei hian a hmaa kan sawi tawh test tlemte aiin natna chi hrang hrang a test a ni. Tunah chuan doctor-te chuan he test tihzauh hi an rawt fo thin. A chunga kan sawi tak natna bakah hian natna tam tak, sawmhnih tam tak pawh a huam thei bawk. Entirna thenkhat chu hetiang hi a ni:

• ‘Nau piang atanga adrenal hyperplasia (CAH)’ `(Nau piang atanga adrenal hyperplasia (CAH))`
• Spinal muscular atrophy a awm thin
• Turner syndrome a ni
• Wilson natna a ni

Targeted Carrier Screening hi eng nge ni?

I chhungkuaah hian genetic disease engemaw zat a awm niin han ngaihtuah teh. Chutiang a nih chuan expanded carrier screening tih i duh loh chuan ‘targeted carrier screening’ i ti thei ang. Chu chu, i chhungkaw nena inzawm natna bikte chauh kan zawng tihna a ni.

Tin, dinhmun thenkhat chuan thlahtu thenkhat nei te pawh a nghawng nasa zawk bawk. Chutiang chu i tan a nih chuan i doctor chuan chutiang dinhmun chauh huamtu ‘carrier screening panel’ siam a rawt thei ang.

Engtin nge he test (Carrier Screening) hi tih a nih?

Carrier Screening-ah hian i thisen, i hmui, i hmui atanga swab sample tlemte lak a ngai a ni . I mamawh dan azirin i doctor chuan heng zinga pakhat hi a thlang ang:

• Thisen test a ni.
• Saliva test a ni.
• Swab hmanga hmui chhung atanga tissue sample lak (Tissue test).

Hemi atan hian a bik takin i inbuatsaih a ngai em?

Saliva test emaw tissue test emaw i neih chuan test hma hian hun rei lote chhung ei leh in loh turin an ti thei che a ni. Chumi piah lamah chuan carrier screening atan hian inbuatsaihna bik a ngai lo tlangpui.

Test zawhah eng nge thleng? Engtikah nge result kan hmuh?

I doctor chuan i thisen, chil emaw tissue sample emaw chu specialized genetics lab-ah a thawn ang a, a zirchiang ang. Test i neih chi hrang hrang a zirin ni engemaw zat emaw kar tlemte emaw hnuah result i hmu ang .

I result i hmuh hnuah i doctor chuan genetic counselor hnenah a refer thei che a ni . Hengte hi genetic condition chungchanga special training dawng tawhte an ni. Anni chuan:

• Carrier nih chungchanga zawhna i neih apiang chhang rawh.
• I duh chuan i carrier status chungchang i chhungte hriattirna tur information tul tak tak pe la.
• Chhungkaw ruahmanna siam dan tur chungchangah thu hriat tur pe rawh.
• A tul chuan healthcare provider dangte hnenah refer rawh.

He test hmang hian risk a awm em?

I thisen laksak i nih chuan needle i dah hian i na deuh thei a, a hnuah pawh i hliam deuh thei bawk. Hei hi thil pangngai a ni.

Carrier screening i neih hmain i doctor nen he test hian a thatna leh a tih theih loh chungchang sawipui hmasa phawt ang che. Entirnan, carrier i nih mai bakah natna chi khat (mild form of the disease) i nei thei bawk (hei hi a tlem hle). Mi thenkhat chuan he test hi an neih avangin an lungkham emaw, an lungkham emaw a ni thei. I hlauhthawnna leh i ngaihtuahna te chu i doctor nen sawiho rawh. A tul chuan rilru lam hriselna lama tanpuina dawng rawh.

Results hian eng nge a sawi?

• Negative result: Hei hian test-naah hian tuna i taksaa genetic variant hriat tawh zinga pakhat mah a hmu lo tihna a ni. Chutiang a nih chuan i fate’n genetic disease an rochun theihna chance a hniam hle. Mahse, carrier screening hian natna tin carrier 100% chu a hriat theih loh. Chuvangin, result tha lo chuan i fate hian genetic disease engmah an nei lo tihna a ni lo .

• Positive result: I Carrier Screening test atanga positive result a awm chuan genetic health condition pakhat emaw a aia tam emaw carrier i ni tihna a ni. I result a positive a nih chuan i reproductive partner pawh test tir i ngaihtuah tur a ni .

Nang leh i kawppui hi autosomal recessive condition inang carrier in ni ve ve ang tih han ngaihtuah teh . Tichuan fa i neih apiangin a hnuaia chance hi an nei vek ang:

• Genes chhia pahnih (nu atanga pakhat leh pa atanga pakhat) rochun theihna chance 25% (pali zinga pakhat) a awm a, he natna hi pianpui a ni
• Gene chhia pakhat chauh (nu emaw pa emaw atanga) rochun a, carrier nih theihna chance 50% (pahnih zinga pakhat) a awm Mahse chu naupang chuan natna chu a nei lovang.
• Gene hrisel pahnih dawng thei hi 25% (pali zinga pakhat) a awm a, natna kengtu a ni lo va, natna laka fihlim pawh a ni lo .

A result hriat nan eng chen nge hun a duh?

Genetic testing hi ni engemaw zat atanga kar tlemte chhunga tihfel theih a ni tlangpui. I result i beisei theih hun tur chu doctor zawt rawh.

Doctor ka hmu leh tur em ni?

Heng thil thlengah hian i doctor zawhfiah rawh:

• I inremna hun chhunga result i hmuh loh chuan.
• I result dawng tawh mah la, zawhna i la nei tho.
• Chhungkaw din dan tur i duhthlan tur i sawi duh chuan.

A tawp berah chuan hriat reng tur pawimawh ber berte

Chuvangin, tunah chuan he test ‘Carrier Screening’ tih hi hriatthiamna tha zawk in neih ka beisei. Hei atanga i hmuh tur lian ber chu i fa tur chungchanga thutlukna dik siam turin thuneihna i nei ang. Tin, hei hian hlauhna leh rinhlelhna i neih zawng zawngte chu paih bovin, rilru thlamuanna i neih theih nân a ṭanpui thei bawk che a ni .

I doctor, leh a tul chuan genetic counselor nen, heng result te hi engtin nge i kalpui ang tih hi sawi hreh ngai suh. I rilru hriselna pawh a pawimawh hle a, chuvangin i mamawh chuan chutiang tur chuan tanpuina zawng rawh. Heng zawng zawng hi chhungkaw hrisel, hlim tak neihna tur a ni.

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