Prenatal Genetic Testing chungchang zawng zawng hi a awlsam zawngin

Nu ni tur i ni em? Tichuan i duhthusam ber chu naute hrisel tak hrin hi a ni. Naupai laiin i hriselna leh i naute hriselna enfiah nan thisen test leh scan an tih thinte chu i hre tawh ngei ang. Mahse, i nausen piang lai hian genetic disease emaw, piansualna emaw a neih leh neih loh hriat lawk theihna test chi khat bik chungchang i hre tawh em? Vawiin hian he thupui pawimawh tak, mi tam takin zawhna an neih, Prenatal Genetic Testing chungchang kan sawi dawn a ni.

A awlsam zawngin, he genetic test hi eng nge ni?

Hei hi hrethiam tur chuan gene leh chromosome te hi eng nge an nih kan en hmasa phawt ang u. Kan taksa hi building lian tak angin han ngaihtuah teh. Genes chu chu building sakna tur blueprint, a nih loh leh thupek set kimchang tak a ni. Chromosomes hi lehkhabu lian tak tak ang a ni a, heng genes te hi a inrual taka vawn tlat a ni. Naupang a lo puitlin chuan heng "lehkhabu" zinga a chanve chu an nu hnen atanga rochun a ni a, a chanve dang chu an pa hnen atanga rochun a ni.

Chuvangin, a châng chuan heng thupekteah hian, emaw, heng "lehkhabu"-ah te hian tlin lohna, tihsual emaw, danglamna emaw a awm thei a ni. Chu chu naupangin genetic condition emaw, piansualna emaw a neih theih hun a ni. Chuvangin, Prenatal Genetic Testing chu nausen pian hma, naupai lai, naupangin chutiang harsatna a neih leh neih loh enfiahna a ni.

Test chi hnih a awm a, a danglamna hi i hrethiam ang u

Heng genetic test te hi chi hnih ah then theih a ni. An pahnih inthlauhna dik tak hi hriatthiam a pawimawh hle.

1. Screening Test: Hei hi risk tehna test a ni.

2. Diagnostic Tests: Hengte hi natna dinhmun finfiah nan test a ni.

Weather forecast ang maiin han ngaihtuah teh. Screening test-ah chuan, "Vawiin hian ruah a sur theihna chance 70% a awm," a ti. Ruah a sur theihna chance sang tak a awm tih chauh a sawi a, ruah a sur ngei ang tihna a ni lo. Diagnostic test chu "tunah chuan ruah a sur tawh" tih chiang taka nemngheh ang mai a ni.

He danglamna hi a hnuaia table atang hian chiang zawkin kan hre thei ang.

Screening test hman tlanglawn ber berte chu engte nge ni?

Screening test chi hrang hrang a awm a. I doctor chuan i tana tha ber berte chu a rawn rawt ang che.

1. Nu leh pa te genetic test (Carrier Screening) 1.1.

Hei hi fiahna pawimawh tak a ni. Hei hi naupang tan tih a ni lo va, nu leh pa tan tih a ni. Genetic natna thenkhat a awm a, chu natna thlentu gene chu kan taksaah nei mah ila, chu natna lanchhuahna chu kan lantir lo. ‘Carrier’ tia koh kan ni . Natna chi khat kengtu i ni ang tih han ngaihtuah teh, i pasal pawh hi natna inang kengtu a ni ve ve, in pahnih hian symptoms nei lo mah ila, chu natna neia naute chu a pian theihna chance 25% a awm. Sri Lanka rama natna tlanglawn tak Thalassemia hi a entir tha hle.

• Hei hi thisen test awlsam tak hmanga tih a ni.
• A tlangpuiin nu chu test hmasa ber a ni. Nu chu carrier a ni tih hmuhchhuah a nih chuan a pa pawh test a ni.
• He test hi dam chhungin vawi khat tih tur a ni .

2. Naute chromosome-a thil dik lo awm leh awm loh enfiah nan test neih thin

Kan taksaa cell tin hian chromosome pahnih 23 kan nei a, a vaiin 46. A chang chuan nausen a pai lai hian heng chromosome awm zat hi a danglam thei a ni. Entirnan, chromosome 21-a pahnih ni lovin pathum a awm chuan Down syndrome a thlen thei.Chutiang dinhmun lo thleng thei tur tehna atan hian test engemaw zat a awm a.

• Cell-free fetal DNA screening (NIPT): Hei hi Sinhala tawng a ni a, a awmzia chu ‘Non-Invasive Prenatal Testing’ tihna a ni. Hei hi technology hmasawn tak a ni. I naupai lai hian i naute atanga DNA fragment tlemte chauh i thisenah a lo inphah kual vel thin. He test hian i thisen sample lak awlsam tak hmangin i naute DNA atanga chutiang fragment te chu a then a, Down syndrome ang chi chromosomal abnormalities tlanglawn tak tak awm theihna tur a enfiah thin. Hei hi naupai kar 10 hnuah tih theih a ni .
• Serum Screening: Hei hi nu thisen test a ni bawk. Mahse, hei hian naute DNA a en lo va, nu thisena protein thenkhat awm zat a en zawk a ni. Heng protein level te hi a zirin naute hian genetic disease a neih theihna tur risk chu chhut a ni. Quad Screen hi hetiang test chi hrang hrang entir nan hman a ni. Hengte hi naupai laiin kar bik ah tih tur a ni.

3. Nausen taksaa taksa lama harsatna awm leh awm loh enfiah nan test neih thin

Hengte hi ultrasound scan hmanga tih a ni fo.

• Nuchal Translucency (NT) Scan: Hei hi naupai kar 11 leh kar 14 inkar a special scan a ni. Naute kawr hnung lama vun hnuaia tui layer khat thickness a teh a ni. Hetiang thickness hi a tlangpui aia sang a nih chuan chromosomal abnormality, Down syndrome ang chi emaw, naute thinlung lama harsatna emaw a ni thei.
• AFP Screening (Maternal Serum Screen): Hei hi thisen test kar 15-22 inkar a tih thin a ni. Nu thisenah protein pakhat AFP an tih level a san chuan naute ruhro (neural tube defects) emaw, pum chhungah emaw harsatna a awm tih a tilang thei a ni.
• Fetal Anatomy Scan (Anomaly Scan): Hei hi nu tam takin an hriat chian em em scan a ni. He scan lian tak, kar 18 leh 20 inkar a tihah hian doctor chuan naute taksa peng hrang hrang, lu atanga ke thlengin uluk takin a enfiah a, chutah chuan thluak, thinlung, kal, ruhro, ke leh ke leh hmai te pawh a tel a ni.

Diagnostic test hmanga natna hriat chian theihna

Screening test result a dik lo a nih chuan, emaw, nausen genetic disease nei (e.g., kum 35 chunglam, chhungkaw history) neih theihna chance sang tak i neih chuan, i doctor chuan natna finfiah nan diagnostic test neih a rawt thei ang.

Heng test te hi a dik hle a, a chhan chu naute cell ngei sample lak a nih vang a ni. Mahse, screening test angin an awlsam lo. ‘Invasive’ test anga ngaih an ni a, .Nau pai theihna chance a tlem hle (0.1% - 0.5%).

Diagnostic test hi chi hnih a awm a, chungte chu:

1. Amniocentesis: Hei hi naupai kar 16 leh kar 20 inkarah tih thin a ni . He test-ah hian doctor chuan scanner kaihhruaina hnuaiah i pum kaltlangin i nausen pum chhungah needle te tak te tak mai a thun a, naute chhehvel amniotic fluid tlemte chu a paih chhuak thin. He tuiah hian naute cell a awm a.

2. Chorionic Villus Sampling (CVS): Hei hi a hma deuh deuh, naupai kar 11 leh kar 13 inkar ah tih thin a ni . Hetah hian pum emaw, serh emaw kaltlangin needle dahin, nausen atanga tissue te tak te tak te chu lakchhuah a ni. Nausen chhunga cell awmte hi naute cell nen hian genetically identical an ni.

Heng sample te hi laboratory-a test tura thawn hian naupang hian chromosomal abnormalities a nei em tih chiang takin a hriat theih a ni.

Heng test te hi neih a ngai em? An tan tu nge pawimawh ber?

Ni lo, heng test te hi tih ngei ngei tur a ni lo . Hei hi nang leh i chhungte tan chuan mimal thutlukna a ni vek. Chu thu tlûkna i siam hmain, i rin dân te, i hlutna te, leh i hma lam hun tûr ruahmannate i ngaihtuah hmasa phawt a ngai a ni.

Nu leh pa ṭhenkhat chuan an fa pian hmain damdawi lam dinhmun hriat an duh a. Chutiang chuan ruahmanna siam lawk a, chu chu zir chhuah a, naupangin a mamawh tur enkawlna bik leh damdawi lam enkawlna atana rilru lama inbuatsaih hun an nei a ni.

Tin, a chang chuan a rah chhuah chu a beidawnthlak hle thei a, nu leh pa thenkhat chu thutlukna harsa tak tak siam tura nawr an ni a, naupai chhunzawm leh chhunzawm loh te pawh hi a ni.

A tlangpuiin, heng test te hi a hnuaia thil awm danah hian ngaihven zawk an ni:

• A hmaa screening test result chu ‘high risk’ a nih chuan.
• I pasal chhungkuaa mi tu emaw chuan genetic disease a neih chuan.
• Nu chu kum 35 aia upa a nih chuan (a chhan chu kum upat deuh deuh hian genetic disease thenkhat a vei theihna a sang chho zel a ni).
• Tun hmaa nau pai emaw, nau piang thi emaw i neih tawh chuan.

I doctor zawh tur zawhna pawimawh

Hemi chungchanga thutlukna i siam hmain i rilruah zawhna i neih zawng zawng chu doctor hnenah zawt la, chiang takin sawi hmasa phawt ang che. Engmah i rilruah vawng reng suh.

• "Ka kum leh medical history ngaihtuah chuan eng screening test nge ka tan a tha ber?"
• "Screning test result a dik lo a nih chuan engtin nge kan tih leh ang?"
• "Diagnostic test ka neih chuan naute emaw kei emaw tan eng risk nge awm?"
• "Hetiang test-ah hian false positive hmuh theihna chance chu eng nge ni?"
• "Result hmuh tur hian eng chen nge hun a duh?"
• "NIPT ang test hian naute mipa leh hmeichhia pawh a hriat theih em?" (Ni e, NIPT test leh a nih theih chuan Anomaly scan hmang hian naute hi mipa leh hmeichhia a ni thei bawk.)