Yu go lɛk fɔ no bɔt yu pikin in wɛlbɔdi bifo tɛm? Lɛ wi tɔk bɔt Prenatal Genetic Testing!

We yu de op fɔ bi mama, di tin we yu want pas ɔl na fɔ bɔn pikin we gɛt wɛlbɔdi, nɔto so? So, tide wi go tɔk bɔt sɔm spɛshal we dɛn fɔ tɛst we go ɛp yu fɔ no bifo tɛm if di pikin gɛt ɛni jɛnɛtik dizayd ɔ we i bɔn we i stil de na di bɛlɛ. Wi kin kɔl dɛn tin ya `(Prenatal Genetic Testing)`. Dɛn tɛst ya nɔto sɔntin we ɔlman fɔ du, bɔt i rili impɔtant fɔ mek yu no bɔt dis.

Wetin na dis (Prenatal Genetic Testing)?

Fɔ tɔk am simpul wan, dɛn tin ya na tɛst dɛn we go no if di pikin we yu nɔ bɔn yet gɛt wan sik we dɛn mek wit in jɛnɛtik ɔ we dɛn bɔn am. Nɔto lɛk di blɔd tayp, ɛmoglobin, ɛn shuga tɛst we yu kin gɛt we yu gɛt bɛlɛ, dɛn jenɛtik tɛst ya nɔ nid fɔ du am ɛn yu kin du am if yu want nɔmɔ . Yu kin tɔk to yu dɔktɔ bɔt dis ɛn disayd us tɛst go fayn fɔ yu.

Na wi jin dɛn de kɔntrol ɔltin na wi bɔdi. Dɛn kin kip dɛn jin ya na tin dɛn we dɛn kɔl kromozom. So, sɔmtɛm, if ɛni chenj ɔ tin nɔ de na dɛn jin ɔ kromozom ya, difrɛn sik dɛn kin apin. wi kin kכl dis kayn kכndyushכn dεm we de we dεn bכn am ``(Congenital Disorders)''. Dɛn jenɛtik tɛst ya kin no sɔm kayn tin dɛn de ivin bifo dɛn bɔn di pikin.

Wetin na dɛn tu kayn tɛst ya? (Skrin ɛn Diagnostik Tɛst dɛn)

Okay, naw mek wi si. tu men tכp dεm de fכ ``Prenatal Jεnεtik Tεst''.

1. Skrin Tεst: Dɛn kin yuz dɛn tin ya fɔ no if yu pikin de pan denja fɔ gɛt sɔm kayn jɛnɛtik kɔndishɔn. Dis nɔ min se di pikin gɛt di sik. Bɔt if di prɔblɛm bɔku, yu dɔktɔ go tɛl yu wetin fɔ du nɛks.

2. Tεst dεm fכ no di sik: dεn tεst dεm ya kin kכnfכm if di pikin gεt jεnεtik kכndishכn כ nכ gεt. Dɛn kin du dɛn tin ya nɔmɔ if di skrinin tɛst sho se i gɛt prɔblɛm, ɔ if i gɛt mɔ prɔblɛm fɔ ɔda rizin.

Naw lɛ wi tɔk bɔt ɛni wan pan dɛn kayn dɛn ya smɔl mɔ.

fכs mek wi luk pan ‘Screening Tests’ (tεst dεm we de luk fכ di fetal risk) .

Di tin we impɔtant pas ɔl fɔ mɛmba na dat, dɛn skreynin tɛst ya nɔ de ɛva tɔk fɔ tru se wan jenɛtik kɔndishɔn de. Ivin if di rizulyt nɔrmal, i nɔ min se di pikin go mɔs gɛt di sik. I jɔs min se wan patikyula risk de we yu kɔmpia am to ɔda wan dɛn. Yu dɔktɔ kin ɛksplen dɛn tin ya to yu ɛn ɛksplen wetin yu fɔ du nɛks. Sɔntɛnde, dɛn kin se bak fɔ du tɛst fɔ no if pɔsin gɛt di sik.

Bɔku kayn tɛst dɛn de fɔ chɛk pɔsin:

1. Carrier Screening - Yu gɛt sik we kin pas to yu pikin?

Dis na blɔd tɛst we yu ɛn yu patna kin tek. I de luk fɔ wan jin kɔndishɔn we kin mek yu pikin gɛt siriɔs wɛlbɔdi prɔblɛm we yu pikin kin gɛt. fכ egzampl, i kin no di kכndyushכn dεm lεk Sistik Faybrosis, Sikl Sεl Disease, εn Spinal Muscular Atrophy.

Fɔ ɛgzampul, if yu blɔd tɛst sho se yu gɛt sɔm kayn jenɛtik risk, i rili impɔtant fɔ mek yu patna du tɛst bak. Bikɔs, if di mama ɛn papa ɔl tu gɛt di sem jenɛtik risk, i go mɔs bi se di pikin gɛt wan bad bad we fɔ da sik de. Dis ``Carrier Screening`` test na wan tɛm nɔmɔ dɛn kin du am insay yu layf.

2. Skrin fכ abnכmal kromozom nכmba

as wi bin dכn se, wi kin gεt kromozom dεm tu tu - wan frכm wi mama εn wan frכm wi papa. sכmtεm, insay dis fεtilayzכn prכsεs, nכmal mistek kin apin. afta dat, pat dεm pan di kromozom pe kin mis כ ad. fכ egzampl, ``Down Syndrome`` (di prεsεns fכ wan εkstra kromozom 21) εn ``Turner's Syndrome`` (di prεsεns fכ wan X kromozom we nכ de). di rizulyt fכ dεn tεst ya kin difrεn frכm bεlε to bεlε.

Bɔku kayn tɛst dɛn de:

• sεl-fri fetal DNA skrεnin: dεn kכl dis bak `(Non-Invasive Prenatal Testing)` כ `(NIPT)`. dis involv fכ tek sכm sכm pat dεm pan yu pikin in DNA (`fetal DNA`) frכm yu bכdi εn fכ luk fכ sכm kכmכn kromozom abnכmaliti dεm. כltu, biכs di כmכnt fכ dis pikin in DNA sכm, dεn kin כnli du dis tεst afta 10 wiks we i bεlε.
• Sɛrum skrinin: Dis na tɛst bak we dɛn kin tek sɛmpul pan yu blɔd. Bɔt i nɔ de luk di pikin in DNA dairekt wan. Bifo dat, i de analayz di lɛvɛl dɛn we difrɛn prɔtin dɛn de na yu blɔd fɔ no if yu gɛt prɔblɛm dɛn we de na yu kromozom. εgzampl dεm fכ dεn tin ya na `(Sεkyuεnshal skrεnin)`, `(Kwad skrεnin)` εn `(Fכs Trimεsta Sεrum skrεnin)`. Ɛni wan pan dɛn tɛst ya nid fɔ du wan patikyula tɛm we yu gɛt bɛlɛ, so i fayn fɔ aks yu dɔktɔ uswan fayn fɔ yu. Dɛn kin du dɛn tɛst ya afta 11 wiks we uman gɛt bɛlɛ.

3. Skrin fɔ si if pɔsin gɛt prɔblɛm wit in bɔdi

sכmtεm, di kromozom abnכmaliti kin mek chenj dεm na di pikin in bכdi strכkchכ. Ɔ, ivin if di kromozom dɛn nɔmal, di pikin kin gɛt prɔblɛm wit in bɔdi. di כltra saund εn blכd tεst we dεn du we uman bεlε kin gi yu aidia fכ di pikin in risk fכ gεt dεn kayn abnכmal tin dεm ya na in bכdi εn if na fכ di jεnεtik kכz dεm.

• Nuchal Translusɛns (NT skan): .dis כltra saund tεst de mכsu di tik we di skin tik na di bak pat pan di pikin in nεk. if dis tik tu hכy, i kin sho se i kin sho se i gεt di kromozom abnכmaliti, εn i kin gεt prכblεm dεm na di bכdi lεk di pikin in at we nכ de gro. dis כltra saund dεn kin du am bitwin 11 εn 14 wiks we di bεlε de.
• AFP skrinin (maternal serum screen): dεn tek sεmpl fכ yu bכdi εn mεzj di lεvεl fכ wan protin we dεn kכl AFP (Alpha-fetoprotein). If dis lɛvɛl tu ay, i kin sho se sɔm prɔblɛm dɛn kin de na di pikin in bɛlɛ, in fes, ɔ in spayna. Dɛn kin du dis bitwin 15 ɛn 22 wik.
• Kwad skrin: dis de mכsu di lεvεl dεm fכ fכ tin dεm na yu bכdi fכ no di risk fכ yu pikin fכ gεt kromozom abnכmaliti εn nyural tyub dεfekt. Dɛn kin kɔl dis bak ``Multiple Marker Screen''. Dɛn kin du dis bak bitwin 15 ɛn 22 wik.
• Fetal anatomy scan: dis na wetin bכku pipul dεn kכl "Anomaly Scan". insay dis, dεn kin yuz כltra saund fכ egzamin di pikin in bכdi strכkchכ dεm, lεk di bren we de divεlכp, skel, at, kidni, bεlε, fes, εn limb dεm. dis ɔltra saund kin bi bitwin 18 ɛn 20 wiks we uman gɛt bɛlɛ.

Impɔtant: Bak, dɛn skrinin tɛst ya kin jɔs sho se i pɔsibul fɔ gɛt wan kɔndishɔn. Dɛn nɔ kin sho klia wan se wan sik de.

Wetin na ‘Diagnostic Tests’? (Tɛst fɔ no if sik de)

di tεst dεm we dεn kin du fכ no if di pikin gεt jεnεtik kכndishכn. Dɛn kin du dɛn tɛst ya nɔmɔ if di rizɔlt fɔ di skrinin tɛst nɔrmal, ɔ if yu gɛt ɔda rizin fɔ tink se yu pikin de pan ay risk fɔ gɛt wan jenɛtik kɔndishɔn (fɔ ɛgzampul, sɔmbɔdi na yu famili gɛt di sik).

di tu kayn tεst dεm we dεn kin kכmכn fכ diagnostik na `(Amniocentesis)` εn `(Chorionic Villus Sampling / CVS)`.

• Amniocentesis: Insay dis tεst, di dכkta de put wan sכmכl nidul tru yu skin insay yu uterus εn tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd yu pikin. dis tεst dεn kin du am bitwin 16 εn 20 wiks we uman bεlε.
• Chorionic Villus Sampling (CVS): insay dis tεst, di dכkta de put nidul insay di uterus εn tek sכm sכm sεl dεm frכm di plasεnta. Di dɔktɔ go disayd if i fɔ put di nidul tru di bɛlɛ ɔ tru di vagina, i go dipen pan uswan we sef. di CVS tεst de du bitwin 11 εn 13 wiks we uman bεlε.

Dɔn dɛn kin sɛn di sampul dɛn to wan lɛbɔtri fɔ mek dɛn analays. di labכtכri kin du spεshal tεst dεm lεk Fluorescence In Situ Hybridization (FISH), standad Karyotyping, εn Microarray. Sɔm tɛst dɛn we dɛn kin du fɔ no if pɔsin gɛt di sik kin gi di rizɔlt insay lɛk 72 awa so, ɛn ɔda wan dɛn kin tek pas tu wiks.

Yu tink se dɛn fɔ du dɛn jenɛtik tɛst ya? Udat fɔ du dɛn tin ya?

If yu fɔ du dis ``Prenatal Genetic Testing'' ɔ nɔ fɔ du am, na yu yon disizhɔn ɔl. If yu nɔ shɔ, yu kin aks yu dɔktɔ wetin i tɛl yu fɔ du. di rizulεt dεm fכ dεn tεst ya kin gi rili implεnt infכmeshכn bכt di pikin in hεlth. Bɔku tɛm, dɛn kin tɛl ɔl di uman dɛn we gɛt bɛlɛ bɔt dɛn jenɛtik skrinin tɛst ya as pat pan di kia we dɛn kin kia fɔ dɛn bifo dɛn bɔn.

Sɔm rizin dɛn we mek sɔm famili dɛn kin disayd fɔ du tɛst fɔ no if dɛn gɛt di sik na:

• Fɔ gɛt abnɔmal rizɔlt frɔm wan skrinin tɛst.
• Fɔ gɛt famili histri bɔt wan jenɛtik kɔndishɔn.
• Bɛlɛ we pas 35 ia.
• We i bin dɔn gɛt bɛlɛ bifo ɔ bɔn pikin we dɔn day.

I nid fɔ mek dɛn du dɛn tɛst ya we uman gɛt bɛlɛ?

Nɔ, i nɔ nid fɔ du dat. Na tin we pɔsin kin disayd fɔ du bay wetin yu biliv ɛn aw yu de mɛn pipul dɛn. Sɔm mama ɛn papa dɛn kin lɛk fɔ no bifo tɛm if dɛn pikin go bɔn wit wan patikyula sik. Dis kin mek dɛn ebul fɔ plan fɔ kia fɔ dɛn pikin bifo tɛm. Bɔt i sɔri fɔ no se sɔm famili dɛn kin gɛt bad bad tin dɛn we kin apin to dɛn, ɛn dɛn kin gɛt fɔ disayd if dɛn fɔ kɔntinyu fɔ gɛt bɛlɛ. So, if yu fɔ du dis skrinin ɔ diagnostik tɛst ɔ nɔ fɔ du am, na yu ɛn yu dɔktɔ nɔmɔ fɔ du.

Aw dɛn kin du dɛn tɛst ya?

כl di `(Prenatal Genetic Screening)` tεst dεm dεn kin du pan bכdi sεmpl frכm di bεlε mama. If di skrinin tɛst rizɔlt sho se di risk de fɔ bɔn pikin we nɔ fayn, di dɔktɔ kin du mɔ dip tɛst (``invasive tests``) fɔ no sɔm patikyula kɔndishɔn dɛn. Dɛn dip dip diagnostik tɛst ya na ``(Amniocentesis)`` ɛn ``(CVS)``.

Us tεst dεm dεn kin du na difrεn wik dεm we di bεlε de?

Dis na prɔblɛm bak fɔ bɔku pipul dɛn.

Fɔs Trimɛst (insay di fɔs 3 mɔnt) tɛst dɛn

di fכs trimεst sεrum skrεnin, sεl-fri fetal DNA skrεnin (NIPT), εn NT כltra saund כl dεn de du bitwin 11 εn 14 wiks we di bεlε de. If yu jɔyn di infɔmeshɔn frɔm dɛn blɔd tɛst ya ɛn di ɔltra saund, yu kin gɛt wan aidia bɔt di risk fɔ gɛt kɔmɔn kromozom disɔda lɛk Daun Sindrom.

``Carrier screenings`` yu kin du am eni tεm we yu bεlε, ivin as ali as 6-10 wik. dis tεst dεm de luk fכ ``singl jin`` kכndishכn dεm we yu kin pas to yu pikin. כltu, ``Carrier screenings`` nכ kin ebul fכ no di kכndishכn dεm we kכz fכ di kromozom abnכmaliti, lεk ``Down Syndrome``.

sεl-fri fetal DNA tεst (NIPT) de tεst di pikin in DNA insay yu bכdi. i de luk fכ di kromozom kכndishכn dεm lεk Down Syndrome, Trisomy 13, εn Trisomy 18. dεn kin du dis tεst as ali as 10 wiks we uman bεlε, כ leta insay di bεlε.

Sεkɔn Trimεst (bitwin 4-6 mכnt) Tεst dεm

di sεkכn trimεst skrεnin tεst dεn de du bitwin 15 εn 22 wiks we di bεlε de. di bכdi tεst dεm we dεn kin du dis tεm na di `(Maternal Serum Alpha-Fetoprotein / AFP screen)` εn di `(Quad screen)`. di `(Quad screen)` gεt in nem biכs i de mכsu fכ tכp protin dεm (`Alpha-fetoprotein / AFP`, `Estriol`, `Human Chorionic Gonadotropin / hCG` εn `Inhibin-A`). Dɛn tɛst ya kin ɛp yu dɔktɔ fɔ no if yu pikin de pan risk fɔ gɛt prɔblɛm wit in jɛnɛtik ɔ in bɔdi. `(Fetal anatomy ultrasound)` (Anomaly scan) na כda we fכ skrεn we kin luk fכ di jεnεtik כ fכshal abnכmaliti dεm na yu pikin.

Dɛn ‘skrinin’ tɛst ya fɔ sik lɛk Daun Sindrɔm kin rɔng?

Yɛs, chans de ɔltɛm fɔ mek di tɛst we dɛn du fɔ chɛk pɔsin nɔ go du di rayt tin. Dat min se, sɔmtɛm risk kin de pan ɔl we i se risk nɔ de, ɛn sɔm tɛm risk kin de pan ɔl we i se risk nɔ de (dɛn kin kɔl dis `false positive` ɛn `false negative`). yu dכkta kin εksplen di akכda rεt (`akכda rεt`) fכ εni skrεning tεst we yu gεt we yu bεlε.

Ɛni risk de wit dɛn tɛst ya?

Dɛn nɔ kin tek di tɛst fɔ chɛk (we dɛn tek blɔd sɛmpul) as sɔntin we gɛt prɔblɛm. Bɔt if yu go fɔ diagnostik tɛst lɛk ``Amniocentesis`` ɔ ``CVS``, na rili smɔl risk de . Dɛn prɔblɛm dɛn de na we pɔsin kin gɛt infɛkshɔn, blɔd, ɔ we uman kin gɛt bɛlɛ. na dat mek dεn nכ de du dεn diagnostik tεst ya fכ כlman in jεnarכl ``Prenatal Genetic Screening``, bכt na fכ di wan dεm we spεshal sכspεshכn.

Aw lɔng i kin tek fɔ mek di rizɔlt kam bak? Wetin di tin dɛn we kin apin kin min?

Skrin tɛst kin tek sɔm dez fɔ gɛt rizɔlt. Di tɛst fɔ no if pɔsin gɛt di sik kin tek sɔm dez to sɔm wiks fɔ gɛt di rizɔlt. Bɔku tɛm, dɛn kin sɛn dɛn sɛmpul ya na lab fɔ mek dɛn tɛst dɛn. Yu dɔktɔ go gɛt di rizɔlt fɔs, dɔn dɛn go tɛl yu di rizɔlt.

Skrin test rizulyt onli sho risk. Dɛn nɔ kin tɛl yu fɔ tru if di pikin gɛt wan sik we dɛn kɔl jenɛtik.

• If dɛn gɛt fayn rizɔlt , dat min se di pikin de pan ay risk fɔ gɛt da sik de pas di jenɛral pipul dɛn.
• If dεn gεt nεgεtiv risכ lt, dat min se di pikin gεt sכm risk fכ gεt da sik de pas di jεnarכl pכpulεshכn.

Yu dɔktɔ kin tɛl yu fɔ du tɛst fɔ no if yu gɛt di sik, lɛk CVS ɔ amniocentesis. Ɔ, dɛn kin rifer yu to wan jenɛtik kɔlnɔ, we spɛshal pan bɛlɛ we gɛt ay risk ɛn jɛnɛtik kɔndishɔn. Nɔ fred fɔ tɔk to yu dɔktɔ dɛn bɔt wetin yu tɛst rizɔlt min ɛn di prɔblɛm ɛn bɛnifit dɛn we yu kin gɛt we yu de du tɛst fɔ no if yu gɛt di sik.

Yu tink se dɛn kin no di pikin in man ɔ uman tru dɛn tɛst ya?

apat frכm we i de gi infכmeshכn bכt di risk fכ di jεnεtik kכndishכn, di ``Cell-free DNA screening / NIPT'' tεst kin gi infכmeshכn bak bכt di pikin in sεks. ``Ultrasound'' kin sho bak di sεks sכmtεm. Bɔt dis na jɔs ɔda bɛnifit, nɔto di men rizin fɔ di tɛst.

Wetin a fɔ aks di dɔktɔ bɔt dɛn jenɛtik tɛst ya?

Skrin ɛn tɛst fɔ no if pɔsin gɛt bɛlɛ na tin we pɔsin kin disayd fɔ du. Yu kin gɛt kwɛstyɔn bɔt us skrinin tɛst yu fɔ du ɔ wetin yu tɛst rizɔlt min. Nɔ fred fɔ aks kwɛstyɔn. Mɛmba se na yu ɛn yu famili nɔmɔ go ebul fɔ disayd aw fɔ dil wit di gud tin dɛn we dɛn dɔn du frɔm ɔl tu di kayn tɛst dɛn we dɛn kin du fɔ chɛk yu jɛnɛtiks.

Sɔm kɔmɔn kwɛstyɔn dɛn we yu kin aks:

• "Us skrinin tɛst yu kin rɛkɔmɛnd bays pan mi wɛlbɔdi istri?"
• "If mi skrinin test rizolt na `Positive`, wetin bi di neks step?"
• "Dεn jεnεtik tεst dεm ya kin du bad to di pikin?"
• "Wetin na di chans fɔ mek pipul dɛn gɛt lay lay pɔsitiv?"

Fɔ dɔn, tin dɛn fɔ mek yu mɛmba (Take-Home Message) .

No rayt ɔ rɔng ansa nɔ de fɔ Prenatal Genetic Testing. Di disayd na yu ɛn yu famili. If yu gɛt wɔri bɔt dɛn tɛst ya, ɔ if yu want fɔ ɔndastand wetin ɛni tɛst go luk fɔ, tɔk to yu dɔktɔ. I kin tɔk to yu bɔt di bad tin dɛn we kin apin ɛn di bɛnifit dɛn we yu kin gɛt we yu de du ɛni jenɛtik tɛst ɛn ɛp yu fɔ disayd fɔ du di bɛst tin fɔ yu ɛn yu famili.

Mɛmba se dɛn kin bɔn bɔku pikin dɛn we gɛt wɛlbɔdi. Bɔt i impɔtant fɔ ɔndastand wetin yu go ebul fɔ du ɛn us jenɛtik tɛst dɛn de fɔ yu. Yu dɔktɔ na yu bɛst gayd fɔ dis joyn.

` Bεlε, jεnεtik tεst, pikin hεlth, fetal tεst, skrinin tεst, diagnostik tεst, Daun sεndrכm, כltra saund