Tlhahlobo ea DNA ea Bokhachane e sa Lefelloeng ke Bokhachane

Litaba

• Ho hlahlojoa ha DNA ea bakhachane ntle le bokhachane ke eng (cfDNA)?
• E sebelisetsoa eng?
• Hobaneng ha ke hloka tlhahlobo ea bakhachane ea cfDNA?
• Ho etsahalang nakong ea tlhahlobo ea bakhachane ea cfDNA?
• Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo ee?
• Na ho na le likotsi tsa tlhahlobo?
• Liphetho li bolelang?
• Na ho na le eng kapa eng eo ke hlokang ho e tseba mabapi le tlhahlobo ea bakhachane ea cfDNA?
• Litšupiso

Ho hlahlojoa ha DNA ea bakhachane ntle le bokhachane ke eng (cfDNA)?

Tlhahlobo ea mali ea bakhachane e sa sebetseng pele ho nako (cfDNA) ke teko ea mali bakeng sa bakhachane. Nakong ea bokhachane, tse ling tsa DNA tsa lesea le e-song ho hlahe li potoloha maling a 'mè. Tlhatlhobo ea cfDNA e lekola DNA ena ho fumana hore na lesea le na le monyetla oa ho ba le Down syndrome kapa lefu le leng le bakoang ke trisomy.

Trisomy ke bothata ba li-chromosome. Li-chromosome ke likarolo tsa lisele tsa hau tse nang le liphatsa tsa hau tsa lefutso. Liphatsa tsa lefutso ke likarolo tsa DNA tse fetisitsoeng ho tsoa ho mme le ntate oa hau. Li na le tlhaiso-leseling e khethollang litšobotsi tsa hau tse ikhethang, joalo ka bophahamo le 'mala oa mahlo.

• Ka tloaelo batho ba na le li-chromosome tse 46, ba arotsoe ka lihlopha tse 23 ka seleng ka 'ngoe.
• Haeba e 'ngoe ea lipara tsena e na le kopi e eketsehileng ea chromosome, e bitsoa trisomy. Trisomy e baka liphetoho tseleng eo 'mele le boko bo hōlang ka eona.
• Ho Down syndrome, ho na le kopi e eketsehileng ea chromosome 21. Sena se boetse se tsejoa e le trisomy 21. Down syndrome ke boloetse bo atileng ka ho fetisisa ba chromosome United States.
• Mathata a mang a trisomy a kenyelletsa Edwards syndrome (trisomy 18), moo ho nang le kopi e eketsehileng ea chromosome 18, le Patau syndrome (trisomy 13), moo ho nang le kopi e eketsehileng ea chromosome 13. Mathata ana ha a atisehe empa a tebile ho feta Down syndrome. Boholo ba masea a nang le trisomy 18 kapa trisomy 13 a hlokahala nakong ea selemo sa pele sa bophelo.

Tlhatlhobo ea cfDNA e na le kotsi e nyane haholo ho uena le lesea la hau, empa e ke ke ea u joetsa bonnete ba hore na lesea la hau le na le bothata ba chromosome. Mofani oa hao oa tlhokomelo ea bophelo o tla hloka ho odara liteko tse ling ho netefatsa kapa ho thibela tlhahlobo.

Mabitso a mang: DNA ea lesea le se nang sele, cffDNA, tlhahlobo e sa hlaseleng ea bakhachane, NIPT

E sebelisetsoa eng?

Hangata ho hlahlojoa ha cfDNA ho bonts'a haeba lesea la hau le e-so hlahe le na le kotsi e kholo ea le leng la mathata a latelang a chromosome:

• Down syndrome (trisomy 21)
• Lefu la Edwards (trisomy 18)
• Lefu la Patau (trisomy 13)

Ho hlahloba ho ka sebelisoa ho:

• Khetholla bong ba lesea (thobalano). Sena se ka etsoa haeba ultrasound e bontša hore litho tsa botona kapa tsa botšehali ha li hlake hantle hore ke monna kapa mosali. Sena se ka bakoa ke bothata ba li-chromosome tsa thobalano.
• Lekola mofuta oa mali oa Rh. Rh ke protheine e fumanoang liseleng tse khubelu tsa mali. Haeba u na le protheine, u nkoa u le Rh positive. Haeba u sa etse joalo, u Rh negative. Haeba u se na tšoaetso ea Rh 'me lesea la hao le e-s'o tsoaloe le na le Rh, sesole sa' mele sa hao se ka hlasela lisele tsa mali tsa ngoana oa hao. Haeba u fumana hore u na le Rh negative pele u ima, u ka noa meriana ho sireletsa ngoana oa hau mathateng a kotsi.

Ho hlahlojoa ha cfDNA ho ka etsoa pele ho beke ea leshome ea bokhachane.

Hobaneng ha ke hloka tlhahlobo ea bakhachane ea cfDNA?

Bafani ba bangata ba tlhokomelo ea bophelo ba khothaletsa tlhahlobo ena ho basali ba bakhachane ba kotsing e kholo ea ho ba le ngoana ea nang le lefu la chromosome. U kanna oa ba kotsing e kholo haeba:

• U lilemo li 35 kapa ho feta. Lilemo tsa bo-mme ke lebaka le ka sehloohong la ho ba le ngoana ea nang le Down syndrome kapa a mang a mathata a trisomy. Kotsi e ea eketseha ha mosali a ntse a tsofala.
• U bile le ngoana e mong ea nang le lefu la chromosome.
• Ultrasound ea hau ea "fetal" e ne e sa shebahale e tloaelehile.
• Liphetho tse ling tsa liteko tsa bakhachane li ne li sa tloaeleha.

Bafani ba bang ba tlhokomelo ea bophelo ba khothaletsa ho lekola basali bohle ba baimana. Lebaka ke hore ho hlahloba ha ho na kotsi ebile ho na le sekhahla se phahameng sa ho nepahala ha ho bapisoa le liteko tse ling tsa tlhahlobo ea bakhachane.

Uena le mofani oa tlhokomelo ea bophelo ba hau le lokela ho buisana haeba tlhahlobo ea cfDNA e u loketse.

Ho etsahalang nakong ea tlhahlobo ea bakhachane ea cfDNA?

Ngaka ea tlhokomelo ea bophelo e tla nka sampole ea mali mothapong o letsohong la hao, e sebelisa nale e nyane. Kamora hore nalete e kenngoe, ho tla bokelloa mali a manyane ka har'a pompo ea liteko. U ka ikutloa u hlaba hanyane ha nale e kena kapa e tsoa. Hangata hona ho nka nako e ka tlase ho metsotso e mehlano.

Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo ee?

U kanna ua batla ho bua le moeletsi oa liphatsa tsa lefutso pele u hlahlojoa. Moeletsi oa liphatsa tsa lefutso ke setsebi se koetlisitsoeng ka ho khetheha liphatseng tsa lefutso le liteko tsa lefutso. A ka u hlalosetsa litholoana tse ka bang teng le hore na li ka bolelang ho uena le ho lesea la hau.

Na ho na le likotsi tsa tlhahlobo?

Ha ho na kotsi ho lesea la hau le e-s'o hlahe le kotsi e nyane haholo ho uena. U kanna oa ba le mahlaba a fokolang kapa ho longoa moo nale e kentsoeng teng, empa matšoao a mangata a fela kapele.

Liphetho li bolelang?

Haeba liphetho tsa hau li ne li le mpe, ho ka etsahala hore lesea la hau le na le Down syndrome kapa lefu le leng la trisomy. Haeba liphetho tsa hau li ne li le ntle, ho bolela hore ho na le kotsi e eketsehileng ea hore lesea la hau le na le a mang a mathata ana. Empa e ke ke ea u joetsa hantle hore na lesea la hau lea ameha. Bakeng sa tlhahlobo e netefalitsoeng u tla hloka liteko tse ling, joalo ka amniocentesis le chorionic villus sampling (CVS). Hangata liteko tsena ke lits'ebetso tse bolokehileng haholo, empa li na le kotsi e nyane ea ho baka ho senyeheloa ke mpa.

Haeba u na le lipotso mabapi le liphetho tsa hau, bua le mofani oa tlhokomelo ea bophelo le / kapa moeletsi oa lefutso.

Ithute haholoanyane ka liteko tsa laboratori, libaka tsa litšupiso, le liphetho tsa kutloisiso.

Na ho na le eng kapa eng eo ke hlokang ho e tseba mabapi le tlhahlobo ea bakhachane ea cfDNA?

Litlhahlobo tsa cfDNA ha lia nepahala ho basali ba nang le bakhachane ba fetang le le leng (mafahla, mafahla a mararo kapa ho feta).

Litšupiso

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Tlhahisoleseling e fumanehang sebakeng sena sa marang-rang ha ea lokela ho sebelisoa ho nka sebaka sa tlhokomelo ea bongaka le likeletso. Ikopanye le mofani oa tlhokomelo ea bophelo haeba u na le lipotso ka bophelo ba hau.