Naute i neih hmaa i hriat tur: Carrier Screening in simple terms

I kawppui nen hian naute neih i ngaihtuah em? Nge i rai tawh em? Tichuan vawiina kan sawi tur hi i tan a pawimawh hle ang. A châng chuan kan hrisel famkim a nih pawhin kan taksaah, chu chu kan gene-ah, natna ṭhenkhat nêna inzawm, inthlâk danglamna thup kan nei thei a ni. Hei hi natna chi khat ‘carrier’ kan tih hi a ni. Vawiin hian ‘carrier screening’ chungchang kan sawi dawn a, chu chu carrier kan nih leh nih loh hriat nana tih thin a ni.

A awlsam zawngin ‘carrier’ tih awmzia chu eng nge ni?

Ngaihtuah teh, kan taksaa mizia zawng zawng (e.g. sam rawng, mit rawng) atan hian gene copy pahnih kan nei a. Pakhat chu kan nu hnen atangin kan hmu a, pakhat zawk chu kan pa hnen atangin. ‘Carrier’ tih chu natna chi khat nena inzawm, gene copy pahnih zinga pakhata chhiatna tenau emaw, inthlak danglamna (pathogenic variant) nei mi a ni.

Mahse, gene copy dang chu a hrisel avangin, a chhiatna neitu hnathawh chu a ‘thunun’ a ni. Chuvangin symptoms engmah i lantir lo. I hrisel a ni. Mahse he gene chhia hi i fate hnena i hlan chhawn theihna i nei a ni. Chu chu ‘carrier’ an tih chu a ni.

A tam zawkah chuan heng carrier test te hian natna rochun ‘autosomal recessive’ angin an zawng thin. Chumi awmzia chu naupangin natna a vei theih nan nu leh pa pahnih hi natna kengtu an nih a ngai tihna a ni. A tam zawkah chuan carrier an ni tih tumahin an hre lo. Hei hi a chhan chu chhungkaw zingah tumahin he natna hi an nei lo mai thei a ni.

Hei bakah hian genetic diseases category pakhat ‘X-linked’ conditions tih a awm bawk. Chungte chu sex chromosome hmanga rochun a ni. Hengte hi carrier test thenkhatin an test bawk.

Engtikah nge he carrier screening hi tih a nih? Engvangin nge a pawimawh?

He test neih hun tha ber leh remchang ber chu naupai i tum hma pawh a ni. Chutiang chuan i hmalam hun tur chu a rah chhuah atanga thutlukna siam turin hun tam tak i nei a, lungkhamna awm lovin leh rilru thlamuang takin i nei a ni.

Ngaihtuah teh, natna pakhat kengtu in ni ve ve tih in hriat chuan duhthlan tur hrang hrang in ngaihtuah thei ang.

• Midang egg emaw sperm hmanga naupang siam (IVF hmanga donor egg emaw sperm emaw hmanga siam).
• Preimplantation genetic testing-ah hian embryo genes test a ni a, nausen hrisel chauh chu nausen pum chhungah dah a ni.
• Naupang adoption.

I naupai hmaa he test hi i tihsak thei lo a nih chuan i naupai tirh lai khan i la ti thei tho a ni. Chuti chung pawh chuan result a\angin nakin lawka naupai tur ruahmanna siam theihna hun i nei ang a, a \ul chuan test dang, amniocentesis ang chi, naute dinhmun finfiah theihna hun i nei ang.

He test hian eng natna chi nge a zawn?

Carrier testing hian genetic natna tlanglawn engemaw zat a zawng thin. Chung zinga ṭhenkhat chu:

• Cystic fibrosis natna (cystic fibrosis) a awm thin
• Sickle cell natna a ni
• Thalassemia - Hei hi Sri Lanka ramah chuan a awm fo thin.
• Tay-Sachs natna a ni
• Fragile X syndrome a ni

Heng bakah hian tunah hian ‘Expanded carrier testing’ tih test a awm tawh a, vawi khatah natna dang tam tak test theih a ni. I chhungkuaa mi pakhatin genetic disease bik a neih chuan chu natna atana target test pawh i nei thei bawk (Targeted carrier screening). Chung zawng zawng chu i doctor nen in sawiho thei a, thutlukna i siam thei bawk.

Engtin nge test hi tih a nih? Thil lian tak a ni em?

He test hi a tlangpuiin a hnuaia tih dan pakhat hmanga tih thin a ni:

• Thisen test: I kut atang hian thisen tlemte lakchhuah a ni.
• Saliva test: I hmui tlemte chu tube-ah a khawl khawm a.
• Tissue test: I hmui chhung lam chu swab te tak te hmangin swab a ni .

Saliva emaw cheek swab atanga sample lak a nih chuan test hmain hun rei lote chhung ei leh in loh tur a ni. Chumi piah lamah chuan inbuatsaihna bik a ngai lo.

Results hian eng nge a sawi? Engtin nge kan hriatthiam ang?

I sample chu special genetics lab-ah test turin an thawn thin. A result a lo chhuah leh theih nan ni engemaw zat emaw, kar engemaw zat emaw a ngai thei.

A result chu 'Negative' a nih chuan...

Chumi awmzia chu i test na natna nena inzawm genetic defects te chu i chhungah hmuh a ni lo tihna a ni. Chumi awmzia chu i fate’n chutiang natna an neih theihna chu a tlem hle tihna a ni. Mahse 100% zero a ni tih theih a ni lo, a chhan chu heng test te hian genetic defect zawng zawng a man thei lo mai thei. Mahse risk a tlem hle tih hriat hian hahdamna nasa tak a pe thei che a ni.

A result chu 'Positive' a nih chuan...

Hei hian genetic disease pakhat emaw a aia tam emaw carrier i ni tihna a ni. He thu i hriat hian hlauthawng suh. Hei hian natna i nei tihna a ni lo. I la hrisel reng a ni.

Mahse tun dinhmuna tih tur pawimawh ber chu i kawppui pawh natna test tir hi a ni.

Natna pakhat kengtu in ni ve ve a nih chuan engtin nge ni ang?

Hei hi kan ngaih pawimawh a ngai a ni. Nang leh i kawppui hi autosomal recessive disease pakhat kengtu in nih chuan, i fa neih apiangin a nghawng theihna chance chu hetiang hi a ni:

Heng result te hi i hmuh veleh i doctor chuan Genetic Counselor , genetic diseases chungchanga training bik leh hriatna nei mi hnenah a refer ang che. Ani chuan dinhmun chu a hrilhfiah lehzual ang che a, i zawhnate chu a chhâng ang a, a hnua hmalak theihte chu a sawiho ang.

He test hi hlauhawmna a awm em?

Taksa lamah chuan thisen lak a nih hian natna tlemte tih loh chu hlauhawmna lian tak a awm lo.

Mahse psychological side pawh i ngaihtuah a ngai bawk. Mi thenkhat chuan test neih leh result hmuh chungchangah hian an lungkham deuh a, an lungkham deuh mai thei. Tin, a tlem hle bawk, ​​carrier mai ni lovin, natna chi khat na lo tak tak i nei tih i hrechhuak mai thei bawk. Chuvangin heng zawng zawng hi test hmain i doctor nen zalen takin sawi rawh. Emotionally uncomfortable i neih chuan i doctor hnenah hrilh hreh suh.