We yu gɛt bɛlɛ, di dɔktɔ kin aks yu fɔ du difrɛn tɛst dɛn, nɔto so? Sɔntɛnde we yu yɛri di nem fɔ dɛn mɛrɛsin ya, yu kin fred smɔl ɛn yu kin want fɔ no mɔ. Fɔ bɔku pipul dɛn, wan tɛst we dɛn nɔ no smɔl, bɔt we rili impɔtant, dɛn kin kɔl am karyotayp tɛst. Sɔm pipul dɛn kin kɔl am bak jɛnɛtik tɛst, kromozom tɛst, ɔ saytojɛnɛtik analisis. Nɔ wɔri, dɛn nem ya de tɔk bɔt di sem tɛst. Tide, wi go tɔk bɔt dis simpul wan, di we we yu go ɔndastand.
Wetin na dis Karyotype Test rili?
Fɔ tɔk am simpul wan, we dɛn du karyotayp tɛst, i kin tek tɛm luk di kromozom dɛn we de insay wi bɔdi in sɛl dɛn. Tink bɔt dɛn kromozom ya as di blueprint fɔ aw wi bɔdi go bil. Dis tɛst de luk fɔ ɛni chenj ɔ abnɔmal tin na dis blueprint.
We yu gɛt bɛlɛ, i go mɔs bi se yu dɔktɔ go ɔda fɔ mek dɛn du skrinin tɛst fɔ chɛk fɔ sɔm kayn jenɛtik ɛn kromozom kɔndishɔn dɛn insay di fɔs tri mɔnt ɛn di sɛkɔn tri mɔnt. Bɔrku tɛm, di rizɔlt fɔ dɛn tɛst ya kin de insay di nɔmal rɛnj. Nɔ ɔda tɛst nɔ nid fɔ de.
Bɔt if dɛn fɔs tɛst dɛn de sɔm kayn we sho se prɔblɛm kin de, yu dɔktɔ kin tɛl yu fɔ du ɔda tɛst lɛk Karyotype tɛst. dis kin kכnfכm wit sכri if di pikin we de gro na di bεlε rili gεt jεnεtik כ kromozom prכblεm כ nכ.
Wetin wan karyotayp tɛst kin luk fɔ?
Nɔmal wan, pɔsin we gɛt wɛlbɔdi kin gɛt 46 kromozom dɛn. Wan pikin kin gɛt 23 pan dɛn tin ya frɔm di mama ɛn di ɔda 23 frɔm di papa.
Sɔntɛnde, pikin kin gɛt ɛkstra kromozom, wan kromozom nɔ de, ɔ i kin chenj we nɔmal wan pan di kromozom. Karyotype test kin no if dis na di kayn tin. Dis na sɔm pan de sik dɛm wae dɔktɔ dɛn kin luk fɔ mɔ wit dis tɛst.
| Kɔndishɔn | Fɔ ɛksplen am simpul wan |
|---|---|
| Daun sindrom (Dɔwn sindrom - Trisɔmi 21) . | di pikin gεt tri (wan εkstra) kromozom dεm insted fכ tu na di kromozom 21. dis de afekt di pikin in luk εn di we aw i de lan. |
| Edwards sindrom (Edwards sindrom - Trisɔmi 18) . | Di pikin gɛt ɛkstra kromozom 18. Dɛn pikin ya kin gɛt bɔku wɛlbɔdi prɔblɛm, ɛn bɔku pan dɛn nɔ kin liv pas wan ia. |
| Patau sindrom (Trisomy 13) we de mek pɔsin gɛt sik. | di pikin gεt εkstra kromozom 13. dεn pikin ya kin gεt at sik εn dεn kin gεt siriכs mεntal rεtardεshכn. Bɔku pan dɛn nɔ kin liv pas wan ia. |
| Di sik we dɛn kɔl Klinefelter syndrome | man pikin gεt εkstra X kromozom (as XXY). Dɛn kin de te fɔ bɔn pikin, ɛn di pikin dɛn nɔ kin ebul fɔ bɔn pikin igen. |
| Turner sindrom we gɛt di sik | uman pikin kin gɛt wan pan dɛn X kromozom dɛn we nɔ de ɔ we dɔn pwɛl. Dis kin mek pɔsin gɛt at sik, i kin gɛt prɔblɛm wit in nɛk, ɛn i kin mek i shɔt. |
nכto כnli dεn de yuz karyotayp tεst fכ no di jεnεtik dεfεkt dεm na di pikin we i bεlε. I gɛt ɔda bɛnifit dɛn bak.
- If i nɔ izi fɔ yu fɔ gɛt bɛlɛ , ɔ yu dɔn gɛt bɛlɛ bɔku tɛm , yu dɔktɔ kin du dis tɛst fɔ chɛk if yu ɔ yu patna in kromozom gɛt ɛni prɔblɛm.
- Fɛn ɔut if yu kin pas wan jenɛtik kɔndishɔn to yu pikin.
- If pikin bɔn we dɔn day, kɔnfirm if di kɔz na prɔblɛm we gɛt fɔ du wit in jɛnɛtiks .
- Fɛn di kɔz fɔ ɛni prɔblɛm wit yu bɔdi ɔ di divɛlɔpmɛnt we yu pikin ɔ pikin we de smɔl kin gɛt.
- Insay di rare kes usay di man ɔ uman we dɛn jɔs bɔn nɔ klia, kɔnfirm am.
- Sɔm kayn kansa dɛnKansa kin mek di kromozom chenj. Karyotype test kin ɛp fɔ no di rayt tritmɛnt.
Wetin na dɛn kayn Karyotype tɛst ya ɛn ustɛm dɛn kin du am?
Dɛn kin jɔs du dɛn tɛst ya na sɔm wik dɛn we uman gɛt bɛlɛ. Yu dɔktɔ go disayd us tɛst go fayn fɔ yu, i go dipen pan aw fa yu de na yu bɛlɛ ɛn di tin dɛn we go mek yu gɛt prɔblɛm.
di pikin kin gεt kromozom prכblεm sכmtεm pan dεn kes dεm ya:
- If yu dɔn pas 35 ia.
- If yu dɔn gɛt pikin we gɛt kromozom disɔda, ɔ if pɔsin na yu famili gɛt dis sik.
- If yu ɔ yu patna gɛt ɛni abnɔmal tin na dɛn kromozom.
- If yu dɔn gɛt bɛlɛ bifo ɔ bɔn pikin dɛn we dɔn day.
Tu men kayn tɛst dɛn de we dɛn kin du:
1. Kɔriɔnik Vilɔs Sampling (CVS) .
insay dis, di dכkta de yuz wan lכng nidul fכ pul wan rili sכm sכm tisu na di plasεnta , we de gi di pikin it. Dɛn kin sɛn dɛn sɛl dɛn ya na wan lɛb fɔ mek dɛn tɛst dɛn. dis kin εp fכ no if di pikin gεt jεnεtik prכblεm lεk Down syndrome, trisomy 13, כ trisomy 18.
- Ustɛm fɔ du am: Bitwin 10 ɛn 13 wiks we uman gɛt bɛlɛ.
- Risk dεm: Na sכm risk de fכ bכn pikin frכm dis tεst (lεk 1 pan 100 uman dεm we gεt di tεst). Sɔm prɔblɛm de bak fɔ di pikin, so di dɔktɔ dɛn kin jɔs tɛl am if i gɛt bɔku prɔblɛm fɔ mek di pikin gɛt prɔblɛm.
2. Amniocentesis we de mek pɔsin gɛt sik
insay dis tεst, di dכkta de put wan lכng nidul tru yu bεlε εn tek sכm sכm pan di amniכtik wata we de rawnd di pikin insay di bεlε. di pikin in sεl dεm we de insay dis wata fכ tεst. כl di jεnεtik prכblεm dεm we di CVS tεst de luk fכ, i kin no bak siriכs kכndyushכn dεm we de afekt di pikin in bren כ spεnal kכd (nyural tyub dεfεkt).
- Ustɛm fɔ du am: Bitwin 15 ɛn 20 wiks we uman gɛt bɛlɛ.
- Risk: Smɔl risk stil de fɔ mek uman nɔ gɛt bɛlɛ, bɔt i smɔl pas di wan we gɛt CVS (lɛk 1 pan ɛvri 200 uman dɛn we dɛn tɛst).
Ɛni risk de pan dɛn tɛst ya?
Yɛs, lɛk aw wi bin dɔn tɔk, sɔm prɔblɛm dɛn de we kin apin we dɛn gɛt di we aw dɛn kin gɛt dɛn sɛl dɛn ya. CVS ɔ Amniocentesis kin rili mek uman gɛt bɛlɛ . Smɔl chans de bak fɔ mek yu blɔd bɔku ɔ yu gɛt infɛkshɔn. Yu dɔktɔ go tɔk bɔt ɔl dis wit yu ditayli. So bifo yu panik, aks yu dɔktɔ ɛni kwɛstyɔn we yu go gɛt.
Wetin kin apin afta di tɛst rizɔlt kam insay?
Dis na di tin we impɔtant pas ɔl. di rizulyt dεm fכ wan karyotayp tεst na rili spεsifi k . dat min se, wans dεn gεt di rizulεt, yu kin no fכ sכri if di pikin ‘gεt’ jεnεtik prכblεm כ ‘nכ gεt’.
Dis nɔ tan lɛk di skrinin tɛst dɛn we dɛn bin dɔn du trade. Dɛn bin jɔs tɔk if di risk na ‘ay’ ɔ ‘lɔ’. Bɔt di rizɔlt fɔ di Karyotype tɛst nɔto fɔ gɛs, bɔt na kɔnfɔmeshɔn.
We yu dɔn gɛt di rizɔlt, yu dɔktɔ go tɔk bɔt am wit yu ditayli ɛn ɛksplen wetin yu nid fɔ du nɛks.
Mɛsej we dɛn kin kɛr go na os
- karyotayp tεst na spεshal jεnεtik tεst we de chεk fכ abnכmal tin dεm na di kromozom dεm na wi sεl dεm.
- if di fכs tεst dεm we dεn bεlε sho se eni risk, dεn kin du dis tεst fכ kכnfכm fכ difinitiv wan if kכndyushכn lεk Daun sεndrכm de.
- di mεtכd dεm lεk CVS εn Amniocentesis, we de kכlekt sεl dεm fכ dis, gεt bכku sכm risk fכ bכn, so dεn kin כnli du dεm insay εkstrim kes dεm.
- di rizulyt fכ karyotayp tεst nכto gεs lεk "high/low risk", bכt na difinitiv ansa we se "prכblεm de/nכ prכblεm de".
- Fil fri fɔ aks yu dɔktɔ fɔ mek i klarify ɛnitin we yu gɛt na yu maynd bɔt dis tɛst, di prɔblɛm dɛn we i kin gɛt, ɛn di rizɔlt.
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