I naute hriselna chungchang hi hriat lawk i duh em? Prenatal Genetic Testing chungchang hi han sawi ila!

Nu nih i beisei lai hian i duhthusam ber chu naute hrisel neih hi a ni lawm ni? Chuvangin, vawiin hian naute hian nausen pum chhunga a la awm laiin genetic disorder emaw, piansualna emaw a neih leh neih loh hriat lawk theihna tur testing method bik thenkhat kan sawi dawn a ni. Hengte hi `(Prenatal Genetic Testing)` kan ti a. Heng test te hi mi zawng zawng tih ngei ngei tur a ni lo va, mahse hei hi i hriat chian a pawimawh hle.

Hei hi eng nge ni (Prenatal Genetic Testing)?

A awlsam zawngin, hengte hi i naute piang lai hian genetic disease emaw, piansualna emaw a neih leh neih loh hriat theihna test a ni. Naupai laiin thisen chi, hemoglobin, leh sugar test i neih ṭhin ang lo takin, heng genetic test te hi a ngai lo va, i duh chauhvin tih theih a ni . Hemi chungchang hi i doctor nen in sawi dun thei a, eng test nge i tan a tha ber tih i rel thei bawk.

Kan taksaa thil awm zawng zawng hi kan genes-in a thunun vek a ni. Heng genes te hi chromosome an tih thilah te dahkhawm a ni. Chuvangin, a chang chuan heng genes emaw chromosomes-ah hian inthlak danglamna emaw, tlakchhamna emaw a awm chuan natna chi hrang hrang a lo awm thei a ni. Chutiang dinhmun chu pian tirh laia awm thin chu ``(Congenital Disorders)'' kan ti thin. Heng genetic test te hian naute pian hma pawhin chutiang dinhmun thenkhat chu a hriat theih a ni.

Heng test chi hnih hi engte nge ni? (Screening leh Diagnostic Test neih dan tur) .

Awle, tunah chuan han en teh ang. ``Prenatal Genetic Testing'' hi chi hnih lian tak a awm a.

1. Screening Test: Hengte hi i naute hian genetic condition engemaw tak a neih theihna tur hlauhawm a nih leh nih loh hriat nan hman thin a ni. Hei hian naute hian natna a nei tihna a ni hauh lo. Mahse, a hlauhawmna a san chuan i doctor chuan i tih tur a hrilh ang che.

2. Diagnostic Tests: Heng test te hian naute hian genetic condition a nei em tih finfiah theih a ni. Hengte hi screening test-a risk a lan chuan emaw, chhan dang avanga risk sang zawk a awm chuan emaw tih thin a ni tlangpui.

Tunah chuan heng chi hrang hrangte hi chipchiar deuhin han sawi ila.

‘Screening Tests’ (nausen hlauhawmna zawngna test) hi han en hmasa ila.

Hriat tur pawimawh ber chu heng screening test te hian genetic condition a awm tih chiang takin an sawi ngai lo. A rah chhuah chu a pangngai lo a nih pawhin naute hian chu natna chu a nei ngei ang tihna a ni lo. Midang nena khaikhin chuan risk engemaw zat a awm tihna chauh a ni. I doctor chuan heng result te hi a hrilhfiah thei che a, eng step nge i tih leh tur tih pawh a hrilhfiah thei bawk. A then phei chuan diagnostic test pawh an rawt thei bawk.

Screening test hi chi hrang hrang a awm a:

1. Carrier Screening - Naute hnena kai theih natna i nei em?

Hei hi i kawppui nen thisen test theih a ni. I nautein a rochun theih tur hriselna lama harsatna lian tak thlen thei, single-gene condition a zawng thin. Entirnan, Cystic Fibrosis, Sickle Cell Disease, leh Spinal Muscular Atrophy ang chi natna te a hmuchhuak thei a ni.

Entirnan, i thisen test-naah hian genetic risk engemaw tak carrier i ni tih a hriat chuan i kawppui tan pawh test neih a pawimawh hle. A chhan chu, nu leh pa pahnih hi genetic risk inang carrier an nih chuan naute hian chu natna chi khat na tak chu a nei thei a ni. He ``Carrier Screening`` test hi dam chhungin vawi khat chauh tih a ni.

2. Chromosome number dik lo enfiah

Kan sawi tawh ang khan chromosome pahnih pahnih-in kan rochun - pakhat chu kan nu hnen atangin leh pakhat chu kan pa hnen atangin. A chang chuan he fertilization process chhung hian natural error a awm thei bawk. Tichuan chromosome pair thenkhat chu a bo thei a, a belhchhah thei bawk. Entirnan, ``Down Syndrome`` (extra chromosome 21 awmna) leh ``Turner's Syndrome`` (X chromosome awm lohna) te hi a ni. Heng test result hi naupai chhungin a inang lo thei a ni.

Test chi hrang hrang a awm a:

• Cell tel lo nausen DNA screening: Hei hi `(Non-Invasive Prenatal Testing)` emaw `(NIPT)` emaw an ti bawk. Hei hian i thisen atanga i naute DNA (`fetal DNA`) te te lak chhuah a, chromosomal abnormalities awm fo thin thenkhat zawn a huam a ni. Mahse, he naute DNA hi a tlem em avangin he test hi naupai kar 10 hnuah chauh tih theih a ni.
• Serum screening: Hei hi i thisen sample lakna test a ni bawk. Mahse, naute DNA chu direct-in a en lo. Chu ai chuan i thisena protein hrang hrang awm zat chu a zirchiang a, chromosomal abnormalities i neih theihna tur a ni. Chung entirnan `(Sequential screening)`, `(Quad screening)` leh `(First Trimester Serum screening)` te hi a ni. Heng test tinte hi naupai laiin hun bituk takah tih a ngai a, chuvangin i doctor hnenah eng test nge i tana tha ber tih zawh a tha. Heng test te hi naupai atanga kar 11 hnuah tih theih a ni tlangpui.

3. Taksa dik lo awm leh awm loh enfiah

A chang chuan chromosomal abnormalities hian naute taksa insiam dan a tidanglam thei a ni. A nih loh leh, chromosomes chu a pangngai a nih pawhin naute hian taksa lama harsatna a nei thei bawk. Naupai lai ultrasound leh thisen test te hian naute hian chutiang taksa lama harsatna a neih theihna tur leh chu chu genetic cause vang a nih leh nih loh hriat theih a ni.

• Nuchal Translucency (NT scan) hmanga thil tih theihna: 1.1.He ultrasound test hian nausen kawr hnunglam vun thik zawng a teh thin. Hetiang thickness hi a san lutuk chuan chromosomal abnormalities a awm theihna a tilang thei a, chubakah taksa lama harsatna, naute thinlung hmasawnna dik lo ang chi te pawh a awm thei bawk. He ultrasound hi naupai atanga kar 11 leh kar 14 inkarah tih thin a ni.
• AFP screening (maternal serum screen): I thisen sample lak a ni a, protein pakhat AFP (Alpha-fetoprotein) tih level chu teh a ni. He level hi a san lutuk chuan naute pum, hmai leh ruhroah taksa lama harsatna engemaw zat a awm thei tih a tilang thei a ni. Hei hi kar 15 leh kar 22 inkarah tih thin a ni.
• Quad screen: Hei hian i thisena thil pali awm zat a teh a, i naute hian chromosomal abnormalities leh neural tube defects a neih theihna tur a teh a ni. Hei hi ``Multiple Marker Screen'' an ti bawk. Hei hi kar 15 leh kar 22 inkarah pawh tih thin a ni.
• Fetal anatomy scan: Hei hi mi tam takin "Anomaly Scan" tia an hriat a ni. Hemiah hian ultrasound hmangin naute taksa insiam dan, thluak, ruhro, thinlung, kal, pum, hmai leh ke leh ke te, a lo thang lian zel te enfiah a ni. He ultrasound hi naupai atanga kar 18 atanga kar 20 inkar ah tih thin a ni.

Pawimawh: Hetah pawh hian heng screening test te hian condition awm theihna chauh a tarlang a ni. Natna a awm tih chiang takin an tarlang lo.

‘Diagnostic Test’ tih hi eng nge ni? (Natna a awm leh awm loh chiang taka hriat theih nan test)

Diagnostic test hmangin naute hian genetic condition a nei em tih a finfiah thei a ni. Heng test te hi screening test result a dik lo a nih chauhvin tih thin a ni a , emaw, i naute hian genetic condition a neih theihna tur a hlauhawm zawk nia ngaihna chhan dang i neih chuan (entir nan, i chhungkuaa mi tu emaw chuan he natna hi a nei a ni).

Diagnostic test chi hnih hman tlanglawn ber chu `(Amniocentesis)` leh `(Chorionic Villus Sampling / CVS)` te an ni.

• Amniocentesis: He test-ah hian doctor chuan i vun kaltlangin i nausen pum chhungah needle te tak te a thun a, i naute hual vel amniotic fluid sample tlemte a la a. He test hi naupai kar 16 leh kar 20 inkarah tih thin a ni.
• Chorionic Villus Sampling (CVS): He test-ah hian doctor chuan nausen pum chhungah needle a thun a, nausen atanga cell sample te tak te a la a. Doctor chuan needle hi pum kaltlanga dah tur nge, vagina kaltlanga dah tur tih chu a him zawk dan azirin a rel ang. CVS test hi naupai atanga kar 11 leh kar 13 inkarah tih thin a ni.

Chumi hnuah sample te chu laboratory-ah an thawn a, an zirchiang leh thin. Laboratory hian test bik, Fluorescence In Situ Hybridization (FISH), standard Karyotyping, leh Microarray te a ti thei a ni. Diagnostic test thenkhatah chuan darkar 72 chhung chauh result a awm thei a, thenkhat erawh chu kar hnih aia rei a ni thei thung.

Heng genetic test te hi tih tur em ni? Hengte hi tuin nge ti tur?

He ``Prenatal Genetic Testing'' hi tih leh neih loh hi i mimal thutlukna a ni vek. I chiang lo a nih chuan i doctor-in a rawtna chu i zawt thei ang. Heng test result hian naute hriselna chungchangah thu pawimawh tak tak a pe thei a ni. A tlangpuiin hmeichhe naupai zawng zawngte chu an naupai hmaa an enkawlna kawngah heng genetic screening test te hi hriattir vek an ni.

Chhungkaw thenkhatin diagnostic test neih an tum chhan thenkhat chu:

• Screening test atanga result pangngai lo dawng.
• Chhungkaw history-a genetic condition nei.
• Kum 35 chunglam naupai.
• A hmaa nau pai emaw, nau piang thi emaw nei tawh.

Naupai lai hian heng test te hi neih a ngai em?

Ni lo, a tul lo. I mimal rinna leh damdawi lam chanchin atanga thutlukna siam a ni. Nu leh pa ṭhenkhat chuan an naute chu natna engemaw tak neiin a piang dawn em tih hriat lawk an duh a. Hei hian an naute enkawl dan tur ruahmanna an siam lawk thei a ni. Vanduaithlak takin chhungkaw thenkhat chuan thil lungchhiatthlak tak tak an nei thei a, naupai chhunzawm leh chhunzawm loh chungchangah thutlukna harsa tak an siam a ngai mai thei bawk. Chuvangin, he screening emaw diagnostic test hi neih leh neih loh chu nangmah leh i doctor-ah a innghat vek a ni.

Engtin nge heng test te hi an tih thin?

`(Prenatal Genetic Screening)` test tam zawk hi nu naupai thisen sample lak a ni. Screening test result-ah nau piangsual a awm theihna a sang tih a lan chuan doctor chuan in-depth test (``invasive tests``) tam zawk a nei thei a, chu chuan condition bik a hriat theih nan. Heng in-depth diagnostic test te hi ``(Amniocentesis)`` leh ``(CVS)`` te an ni.

Naupai kar hrang hrangah eng test nge tih thin?

Hei hi mi tam tak tan pawh harsatna a ni.

First Trimester (thla 3 hmasa chhung) test neih thin a ni

First trimester serum screening, cell-free fetal DNA screening (NIPT), leh NT ultrasound te hi naupai kar 11 leh kar 14 inkarah tih vek a ni. Heng thisen test leh ultrasound atanga information te hi i dahkhawm chuan Down Syndrome ang chi chromosomal disorder tlanglawn tak tak awm theihna tur ngaihtuahna i nei thei ang.

``Carrier screenings`` hi i naupai chhungin engtik lai pawhin tih theih a ni a, kar 6-10 vel atang pawhin tih theih a ni. Heng test te hian i naute hnena i pek theih tur ``single gene`` condition an zawng thin. Mahse, ``Carrier screenings`` hian chromosome dik lo vanga thil awm dan, ``Down Syndrome`` ang chi te chu a hmu thei lo.

Cell-free fetal DNA testing (NIPT) hian i thisenah naute DNA a test a. Chromosomal condition hrang hrang Down Syndrome, Trisomy 13, leh Trisomy 18 te a zawng a, he test hi naupai kar 10 hnuah emaw, naupai hnu lamah emaw tih theih a ni.

Second Trimester (thla 4-6 inkar) Test neih thin a ni

Second trimester screening test hi naupai kar 15 leh kar 22 inkarah tih thin a ni. Hetih laia thisen test an tihte chu `(Maternal Serum Alpha-Fetoprotein / AFP screen)` leh `(Quad screen)` te an ni. `(Quad screen)` hian a hming hi a puan chhan chu protein chi li (`Alpha-fetoprotein / AFP`, `Estriol`, `Human Chorionic Gonadotropin / hCG` leh `Inhibin-A`) a teh vang a ni. Heng test te hian i doctor chu i naute hian genetic emaw physical abnormalities a neih theihna chance a sang zawk em tih a hriat theih nan a pui thin. `(Fetal anatomy ultrasound)` (Anomaly scan) hi screening method dang a ni a, chu chuan i naute genetic emaw physical abnormalities emaw a zawng thei a ni.

Down Syndrome ang chi natna hrang hrang ‘screening’ test te hi a dik lo thei ang em?

Ni e, screening test a dik lo theihna chance a awm reng a ni. Chu chu, a chang chuan risk a awm lo tih pawhin risk a awm thei a, a chang chuan risk a awm lo tih pawh a awm thei bawk (hei hi `false positive` leh `false negative` an ti). I doctor chuan naupai laiin screening test i neih apiang dikna rates (`accuracy rates`) a hrilhfiah thei ang.

Heng test te hi risk a awm em?

Screening test (thisen lak) hi risky anga ngaih a ni lo. Mahse, ``Amniocentesis`` emaw ``CVS`` ang chi diagnostic test i neih chuan risk a tlem hle . Chu hlauhawmte chu natna hrik kai, thisen chhuah, a nih loh leh nau pai a ni. Chuvangin heng diagnostic test te hi mi zawng zawng tan a tlangpuiin ``Prenatal Genetic Screening`` tih a ni lo va, a bik takin rinhlelh nei te tan chauh tih a ni.

Results a lo let leh theih nan eng chen nge hun a duh? A result hian eng nge a awmzia?

Screening test-ah hian result hmuh theih nan ni engemaw zat a ngai a ni. Diagnostic test-ah hian ni engemaw zat atanga kar tlemte chhung a ngai thei a, result a awm thei. A tam zawkah chuan heng sample te hi lab-ah test turin an thawn thin. I doctor chuan result a hmu hmasa ang a, chutah chuan result chu an hrilh ang che.

Screening test result hian risk chauh a tarlang. Naute hian genetic condition a nei em tih chiang takin an hrilh lo che.

• Positive result a awm chuan naute chu mipui zawng zawng aiin chu natna vei theihna a sang zawk tihna a ni.
• Negative result a awm chuan naute hian chu natna vei theihna chance chu mipui zawng zawng aiin a hniam zawk tihna a ni.

I doctor chuan diagnostic test, CVS emaw amniocentesis emaw tih a rawt thei ang. A nih loh leh, naupai hlauhawm tak leh genetic condition lama tui tak, genetic counselor hnenah an refer thei che a ni. I test result awmzia leh diagnostic test-a hlauhawmna leh hlawkna chungchang doctor-te nen inbiakna neih hlau suh.

Heng test hmang hian naute mipa leh hmeichhia a hriat theih em?

Genetic condition hlauhawmna chungchang hriattirna bakah hian ``Cell-free DNA screening / NIPT'' test hian naute sex chungchang pawh a hriattir thei bawk. ``Ultrasound'' hian a chang chuan sex a hril thei bawk. Mahse, hei hi hlawkna dang chauh a ni a, test chhan ber a ni lo.

Heng genetic test chungchangah hian doctor hnenah eng nge ka zawh ang?

Naupai laiin screening leh diagnostic test hi mimal thutlukna a ni. Eng screening test nge i neih tur tih emaw, i test result awmzia emaw chungchangah zawhna i nei thei. Zawhna zawh hreh suh. Genetic test chi hnih atanga positive result i hmuh dan tur chu nang leh i chhungte chauhvin i rel thei tih hre reng ang che.

Zawhna tlangpui i zawh theih ṭhenkhat:

• "Ka hriselna chanchin a zirin eng screening test nge i rawt?"
• "Ka screening test result chu `Positive` a nih chuan eng nge ka tih tur?"
• "Heng genetic test te hian naute hi a tichhe thei em?"
• "False positive hmuh theihna chance engzat nge awm?"

A tawp berah chuan i hriat reng tur thil (Take-Home Message) .

Prenatal Genetic Testing hi chhanna dik leh dik lo a awm lo. Thutlukna chu nang leh i chhungte kutah a awm. Heng test-te chungchangah hian ngaihtuahna i neih chuan, emaw, test tin hian eng nge a zawn dawn tih hriatthiam i duh chuan i doctor nen inbia ang che. Genetic test tin hian a hlauhawmna leh hlawkna a sawipui thei che a, nang leh i chhungte tana thutlukna tha ber siam turin a pui thei bawk che a ni.

Nausen tam zawk hi hrisel taka piang an ni tih hre reng ang che. Mahse, i duhthlan tur chu eng nge ni tih leh eng genetic test nge i neih theih tih hriatthiam a pawimawh. He zinkawngah hian i doctor hi i kaihruaitu tha ber a ni.

` Naupai, genetic test, naute hriselna, nausen test, screening test, diagnostic test, Down syndrome, ultrasound