I naute hian he genetic condition hmuh tur awm lo tak hi a nei em? Trisomy 13 (Trisomy 13 - Patau Syndrome) chungchang hi han sawi ila!

Naute i beisei lai, emaw, fa tê tê i neih lai hian, an hriselna chungchangah tlem emaw, hriat duhna emaw i neih chu thil pangngai a ni, a dik em? A chang chuan kan hriat ngai loh hming hmangin natna kan zir thin. Entirnan, genetic condition hmuh tur awm lo, mi tam takin an hriat loh, mahse naupang a nghawng thei chu Trisomy 13 an ti a, mi thenkhat chuan Patau Syndrome an ti bawk. Hei hi hlauhawm deuh angin lang mahse, a chungchang hi hriat chian a pawimawh hle. Chuvangin, a awlsam zawngin, i hriatthiam theih tur angin i sawi ang u?

Trisomy 13 hi eng nge a nih i hria em?

A awlsam zawngin kan taksaa cell tin hian chromosome an tih package tenau tak tak, genetic information dahkhawmna a nei vek a. Hengte hi kan taksa thanlen dan leh hnathawh dan tur hrilhtu instruction manual ang a ni. Lehkhabu bung khat angin ngaihtuah rawh. A tlangpuiin chromosome tin pahnih emaw, pahnih emaw kan nei thin. Kan nu hnen atangin pakhat kan hmu a, kan pa hnen atangin pakhat kan hmu bawk.

Mahse, Trisomy 13 vei naute hian chromosome 13-na copy pahnih ni lovin copy thum a nei a. Chuvang chuan ‘trisomy’ (‘tri’ tih awmzia chu pathum tihna a ni). He extra chromosome hian naute hmai, thluak, thinlung leh taksa thanlenna kawng hrang hrangin a nghawng a ni. Hei hi naute tan chuan nunna atana hlauhawm tak a ni fo thin. Chuvangin, naupai laiin nau pai theihna a awm fo a, lungchhiatthlak takin nausen kum khatna chhunga naute hloh theihna a awm bawk.

He dinhmun hian tute nge a nghawng ber?

Hei hi tu chungah pawh thleng thei thil a ni. A chhan chu nausen pian laia cell inthen darh palh avanga copying error a awm vang a ni. Chu chu nu leh pa sual vang a ni lo tihna a ni. Mahse, zirchianna ṭhenkhatah chuan kum 35 chunglam nute chuan fa an neih hunah he genetic condition hi an vei theihna chance a sang deuh hlek tih hmuhchhuah a ni Mahse, hei hian nu naupang zawkte chungah a thleng lo tihna a ni lo va, kum upa zawk zawng zawngah pawh a thleng lo tihna a ni lo.

Hetiang chi genetic condition hi i hlauhawm em tih hriat nan, i doctor nen genetic testing chungchang sawipui a tha , a bik takin chhungkaw din i tum emaw, naupai i nih chuan.

Trisomy 13 (Patau Syndrome) hi engtiang chiahin nge a awm?

Hei hi thil awm lo tak a ni. Nau piang nung 10,000 atanga 20,000 zinga 1 vel a nghawng a ni. Nau piang ni hmasa berah hian thihna rate hi a sang hle. Nausen lai hian nunna atana hlauhawm tak tak, thinlung lam harsatna leh ruhro lam thil dik lo a awm theih avangin naupai tam tak chu nau paiah a tawp thin. Trisomy 13 vei nausen piang zinga 5% atanga 10% chauh hi kum khatna aia rei an dam thei. Heng statistics i hriat hian lungngaihna hi hriatthiam theih a ni a, mahse he dinhmun hi hriat chian a pawimawh hle.

Engtin nge Trisomy 13 (Patau Syndrome) hian ka naute taksa a nghawng?

Trisomy 13 hian i naute than danah nghawng lian tak a nei thei a ni. Heng nghawngte hi naute pakhatah a inang lo thei a ni.

Entir nan,

• Cleft palate emaw cleft lip emaw a awm
• Kut leh keah kut zungtang extra neih (polydactyly) .
• Muscle weakness (hypotonia) , chu chu naute taksa chu nunna nei lo niin a inhria tihna a ni.
• Lu te tak te (microcephaly) .

Taksa thanlennaah thil danglam (abnormalities) hmuh tur a awm.

Tin, naute chhungril peng hrang hrangte hmasawnna a nghawng bawk. Hei hian taksa peng pawimawh, a bik takin thinlung, thluak leh kal (kidney)-ah harsatna a thlen thei a ni. Hei hian nunna atana hlauhawm symptoms a thlen thei a ni. Naute a pian hnuah chuan naute chu Neonatal Intensive Care Unit (NICU) -ah dah a nih a rinawm. Chutah chuan doctor leh nurse-te chuan naute chu a dam khawchhuah theihna chance tha ber pe turin a taksa lama a lan chhuah dan a zirin a tul anga damdawi leh enkawlna an pe ang.

Trisomy 13 (Patau Syndrome) natna lan chhuah dan chu engte nge ni?

Heng symptoms te hi mi tin a inang lo thei a, a nasat dan pawh a inang lo thei bawk. Nausen thenkhat chuan symptom tam tak an nei thei a, thenkhat erawh chuan an nei tlem hle thung.

Hmuh theih thil langsar ber berte chu:

• Pianpui thinlung natna (congenital heart abnormalities) a awm. Hei hi a awm dan tlangpui a ni.
• Taksa hmasawnna lama harsatna, a bik takin ruhro (spinal cord) a dik lo.
• Cognitive function lama harsatna lian tak tak a awm. Chumi awmzia chu naute rilru lama hmasawnnaah nghawng lian tak a nei tihna a ni.
• Internal organs hmasawn lo.

Taksa chhinchhiahnate chu engte nge ni?

Hengte hi pawn lam mizia thenkhat chu an ni:

• Cleft hmui emaw, cleft palate emaw.
• Naute taksa rihna tihpun harsatna, chu chu naute hian hnute a dawng tlem a, a latching tha lo tihna a ni.
• Kut zungtang emaw ke ruh emaw extra neih (polydactyly).
• Low-set beng a awm.
• Kut leh ke hmasawnna lama thil danglam (abnormalities) a awm.
• Muscle chak lohna (hypotonia).
• Lu te tak te (microcephaly) leh hmui te tak te (micrognathia).
• Mit te tak te, close-set emaw, a lo thanglian lo emaw.

Internal organs tichhe thei symptoms te chu engte nge ni?

Hetiang dinhmun hian taksa chhunga taksa peng hrang hrangte pawh a nghawng a:

• Gastrointestinal (GI) lama harsatna nei, ei leh in lama harsatna thlentu.
• Lung lam chak lohna.
• Hriatna lama harsatna, chu chu hriatna lama harsatna nei tihna a ni.
• Lung hmasawn lo.
• Mit hmuhna lama harsatna a awm.

Heng internal organ symptoms te hi nunna atana hlauhawm thei a nih avangin Trisomy 13 vei hmuhchhuah zinga 80% vel chu an piancham hmasa ber hmain an thi thin.Chutianga nungte pawhin kum khatna hnuah nunna atana hlauhawm dang, cancer leh seizures te an nei thei a ni.

Trisomy 13 (Patau Syndrome) hi eng thilin nge a thlen?

Kan sawi tawh ang khan Trisomy 13 hi chromosome 13 bakah chromosome dang dah belh vang a ni a, chuvangin, trisomy 13 vei chuan chromosome pangngai 46 ni lovin, a vaiin chromosome 47 a nei a ni.

Ngaihtuah teh, kan taksa hian chromosome an tih thil pakhat a nei a. Hengte hi kan cell-a DNA (Deoxyribonucleic Acid) te an ni a, chu chuan kan taksain a thanlenna leh a hnathawhna atana a mamawh instruction te chu a dahkhawm thin a ni. Genes hi he DNA-a section hrang hrang a ni a, instruction book-a bung ang mai a ni.

Cell hi reproductive organs-ah a lo piang hmasa ber a, chu chu sperm leh egg inzawmkhawmin fertilized cell a siam a ni. Cell tharte hian an inthen darh a, anmahni copy an siam a, chu chu original cell DNA chanve hmangin an siam chhuak a ni. Hetianga cell inthen darh chhung hian a chang chuan chromosome pathumna chu chromosome pahnih ah hian a lo awm thei a – hei hi trisomy an ti a. Instruction book thumal khat hnu thumal copy a, lehkha pakhat hloh ang mai a ni. He ‘typo’ hi a lo awm hian trisomy 13 symptoms a lo lang thin. A chhan chu cell te hian an lo thang lian tur leh an hnathawh that theih nan an mamawh tur thupek an dawng lo.

Trisomy 13 hi a lo awm theih dan kawng thum a awm a, chungte chu:

Trisomy 13 hi a lo awm theih dan tlangpui pathum a awm a, chu chu chromosome 13 inzawm dan azirin a ni:

1. Complete Trisomy 13: Hei hi a tam ber a ni. Heta thil thleng chu naupai hmaa sperm leh egg siam a nih chuan random copying error a awm avangin chromosome 13-ah hian a mamawh aia tam genetic material a dah belh a ni. Chumi awmzia chu naute cell tin hian chromosome 13 copy pathum an nei tihna a ni a, he extra genetic material hian a symptoms a thlen thin a ni.

2. Translocation: Hei hi trisomy 13 vei zinga 20% vel ah a thleng thin a, hei hi embryonic development laiin chromosome 13 piece pakhat chu a bul hnaia chromosome dang (entir nan, chromosome 14) ah a inzawm chuan a thleng thin. Hetiang a nih chuan chromosome 13 hi a tlangpuiin pair hnih a awm a, mahse chu bakah chuan chromosome 13 piece pakhat chu chromosome dang nen a inzawm bawk.

3. Mosaic Trisomy 13: Hei hi a tlem hle. Heta thil thleng chu taksaa cell thenkhat chauh hian chromosome 13 extra copy an nei a, cell zawng zawngah an nei lo. Chu chu cell thenkhat chuan chromosome 13 zinga pathum an nei a, cell thenkhat erawh chuan normal pair pahnih (euploid) an nei thung. Mosaic trisomy 13-a symptoms nasat dan chu extra chromosome nei cell zat a innghat a ni. Cell tam zawkin extra copy an neih chuan symptoms a na zual thin.

Engtin nge Trisomy 13 (Patau Syndrome) hi hmuhchhuah a nih?

Naupai thla thum khatna, kar 11-14 vel chhung hian i doctor chuan nau neih hmaa ultrasound pangngai a ti ang.Tin , genetic screening test neih a tha bawk. Heng scan te hian amniotic fluid tam lutuk leh naute thanlenna lama thil dik lo awm zawng zawng te a zawng thin. Chung zingah chuan thisen test pawh a tel.

Heng test hmasa berte hian hlauhawmna a lantir chuan doctor chuan diagnostic test dang neih belh a rawt thei bawk. Naute pian hnuah diagnosis hi finfiah theih a ni. Chumi hnuah chuan doctor chuan naute chu taksa lamah a enfiah thei a, a natna lan chhuah dân a zawng thei a, a ṭûl chuan chromosome test bik, karyotype test ang chi pawh a ti thei bawk. He karyotype test hi chromosomal abnormality dik tak finfiah nan hman a ni.

Trisomy 13 (Patau Syndrome) hi engtin nge enkawl a nih?

Trisomy 13 vei naute chu a pian tirh leh hun rei tak chhunga enkawl a ngai dawn a, chu chu a natna lan chhuah dan control nan leh naute chu a nuam thei ang bera siam turin a ngai dawn a ni. Mahse, he natna hi damdawi kimchang a awm lo tih pawh kan hrethiam tur a ni . Enkawlna hi a bul berah chuan natna lan chhuah dan enkawl leh nunphung tihchangtlun a ni.

Trisomy 13 vei naupang piangte enkawlnaah chuan:

• Zirna lama tanpuina: Naupang mamawh bik nei te tana ruahman zirna programme.
• Symptoms tihziaawmna tur damdawi: Entirnan, seizure control nana damdawi emaw, thinlung natna tan emaw.
• Thusawi, nungchang leh taksa lam enkawlna: Heng enkawlnate hian naute theihna tihhmasawn nan a pui a ni.
• Taksa dik lo siam\hatna tur surgery: Entirnan, cleft palate emaw, heart defect thenkhat emaw siamthat nan surgery tih theih a ni. Mahse, heng surgery te hi naute hriselna zawng zawng ngaihtuah hnua tih thin a ni.

Trisomy 13 vei thenkhatah chuan naute chu an piancham hmasa ber hmu turin a dam lo mai thei a, mahse a natna lan chhuah nasat em avangin an piancham hmasa ber an thleng thei lo thei a ni. Thil tam takah chuan trisomy 13 hmuhchhuah a nih chuan nau a pai emaw, nau a pai thei lo emaw a ni. He hun harsa tak karah hian i ṭhiante, chhungte, leh damdawi lam thawktute hnen aṭanga ṭanpuina i zawn a pawimawh hle. Lungngaihna thurawn emaw, lungngaihna thurawn emaw hi i hmangaih tak, a bîk takin naupang boralna hmachhawn tûra ṭanpuitu ṭha tak a ni thei a ni.

Engtin nge ka fain Trisomy 13 (Patau Syndrome) a vei theihna tur chu ka tihziaawm theih ang?

Trisomy 13 hi genetic defect a nih avangin randomly a lo awm a, chuvangin a ven theih dan tur a awm tak tak lo. Chumi awmzia chu i thil tih leh tih loh avanga lo awm thei a ni lo tihna a ni. Mahse, kan sawi tawh ang khan naupai laiin kum 35 i pelh tawh a nih chuan, chutiang genetic condition nei naute neih theihna chance chu a sang deuh hlek a ni.

Fa neih i tum a nih chuan i doctor nen genetic counseling chungchang sawipui rawh.Genetic testing hi hriat chian a pawimawh a, genetic condition nei fa neih theihna tur hlauhawmna hriatthiam a pawimawh bawk.

Naupang Trisomy 13 (Patau Syndrome) vei i neih chuan eng nge i beisei theih ang?

Hei hi hriat harsa viau mah se, thudik sawi a pawimawh. Trisomy 13 vei nia hriat naute prognosis chungchangah hian thil tha tak sawi a harsa a, hei hi a chhan chu nausen stage-ah hian harsatna lian tak tak a awm thei a, a bik takin naute taksa peng pawimawh tak tak, thluak, thinlung, ruhro leh lung te a nghawng thei a ni.

Nausen hian trisomy 13 a neih chuan nau pai hi first trimester-ah a awm fo thin. Trisomy 13 vei nausen piang zinga 80% chuan dam rei an nei rei lo. Nausen tam zawk hi an dam chhung kar hmasa berah emaw, an piancham hmasa ber hmain emaw an thi thin. Kum khatna hnuah pawh 10% vel chauh an dam thei. Heng naupangte hian hun rei tak chhung chu hriselna lama harsatna lian tak tak leh hmasawnna tlai tak tak nen an khawsa a ngai bawk.

Trisomy 13 (Patau Syndrome) ka vei tih hmuhchhuah a nih hnuah engtin nge ka in enkawl ang?

Trisomy 13 diagnosis dawn emaw, a vanga fa hloh hi thil harsa tak a ni. Hetih lai hian nangmah leh i chhungte i enkawl a pawimawh hle.

• I lungngaih a, i lungngai a, i lungngai a, a nih loh leh beiseina i nei lo a, i naute boral chu tuar harsa i tih chuan doctor emaw, rilru lam hriselna lama counselor emaw pan rawh .
• Counselling neih hi he lungngaihna hi enkawl kawngah hian a \angkai hle thei a ni.
• I rilru put hmang chu i chhungte leh i thiante hnai tak takte hnenah sawi rawh.
• Nangmah chauh i ni lo tih hre reng ang che. Tin, chutiang thil tawn tawh nu leh pa dangte hnen atanga tanpuina i hmuh theihna tur support group zawng bawk ang che.

Engtikah nge Doctor ka hmuh ang?

I naute hian Trisomy 13 natna lan chhuahna na tak a neih chuan doctor pan nghal rawh, hei hian a awmzia chu:

• Ei harsa a nih chuan, bawnghnute chu kawr chhungah a inkhung ang tih a hriat chuan.
• Thâwk harsa a nih chuan, thawk dan a inang lo a nih chuan.
• Heartbeat a mumal lo a nih chuan.
• Seizures a awm chuan.

Tin, naupang hloh emaw, he natna hmuhchhuah avanga tuar theih loh lungngaihna, lungkhamna emaw, lungngaihna emaw i neih chuan doctor hmu la, sawipui ngei ang che.

Doctor hnenah eng zawhna nge ka zawh ang?

Hetiang hunah hian zawhna tam tak neih hi thil pangngai tak a ni. I doctor hnenah heng zawhnate hi zawt hreh suh:

• "Genetic condition nei fa neih hi ka/kan risk hi eng nge ni?"
• "Ka naute pian hnua a dam khawchhuah theih nan eng treatment nge i rawt?"
• "Hetiang natna neia piang naupang enkawl lai hian eng thil bik nge ka hriat tur?"
• "Ka fa ka chan chuan counseling service emaw, lungngaihna ka hmachhawn theihna tura min pui thei tur thil dang emaw min hrilh thei ang em?"

Trisomy 13 leh Trisomy 18 hi eng nge an danglamna?

Trisomy 13 leh Trisomy 18 – Edwards syndrome tia hriat bawk – te hi an inang vek a, an pahnih hian pair pakhatah extra chromosome dah belh a ni. A danglamna chu extra chromosome chu chromosome 13 emaw chromosome 18 emaw-ah dah a nih leh nih loh a ni a , heng pahnihah hian damlo hian a vaiin chromosome 47 a nei a, a tlangpuiin chromosome 46 a nei lo.

Heng natna pahniha symptoms hi a inang hle a, an pahnih hian a na hle bawk. A rah chhuah chu nunna atana hlauhawm tak a ni fo. Nu leh pa tam tak chuan nau pai te, nau piang thi te, a nih loh leh naute chu a piancham hmasa ber hmain a thi a ni.

I rilru siam tura thuchah pawimawh tak

I naute hian Trisomy 13 a vei tih i hriat chuan, chuvangin dam rei lo tura beisei a ni tih i hriat chuan, i mangang a, i lungngai a, i hrehawm hle mai thei. Vawi khatah rilru natna tam tak i nei thei a, chu chu lungngaihna te, thinrimna te, buaina te, tanpui theih lohna te, a nih loh leh bo tawh anga inhriatna te hi a ni thei. Heng rilru put hmang zawng zawng hi thil pangngai a ni.

He hun harsaah hian nangmah chauh i ni lo tih hre reng ang che. I chhehvela mi \anpui theitu i neih a pawimawh a , chutah chuan i chhungte, i kawppui leh i thiante rintlak te, chubakah rilru lam hriselna lama mithiam, doctor, nurse, leh lungngaihna counselor te ang chi, he thil harsa tak i tawn theihna tura pui thei tur che i neih a pawimawh hle. I rilru put hmang sawi leh tanpuina dil chu hlau ngai suh.

He thu hian Trisomy 13 (Patau Syndrome) tih natna hi hriatthiamna engemaw chen i neih theih ka beisei.

` Trisomy 13, Patau syndrome, genetic diseases, chromosomal abnormalities, naupai, naute hriselna, pianpui chhiatna