Ungathanda ukwazi ngempilo yengane yakho kusenesikhathi? Ake sixoxe ngokuhlolwa kofuzo ngaphambi kokuzalwa!

Uma ulindele ukuba ngumama, isifiso sakho esikhulu ukuba nomntwana onempilo, akunjalo? Ngakho-ke, namuhla sizokhuluma ngezindlela ezithile zokuhlola ezikhethekile ezizokusiza ukuthi wazi kusengaphambili ukuthi ingane inezinkinga zofuzo noma ukukhubazeka kokuzalwa isesesibelethweni. Lokhu sikubiza ngokuthi `(Ukuhlolwa Kofuzo Kwangaphambi Kokuzalwa)`. Lokhu kuhlolwa akuyona into okufanele wonke umuntu ayenze, kodwa kubaluleke kakhulu ukuthi uqaphele lokhu.

Kuyini lokhu (Ukuhlolwa Kwezakhi Zofuzo Ngaphambi Kokuzalwa)?

Kalula nje, lezi yizivivinyo ezingabona ukuthi ingane yakho engakazalwa inesifo sofuzo noma isici sokuzalwa. Ngokungafani nokuhlolwa kohlobo lwegazi, i-hemoglobin, kanye noshukela ovame ukukuthola ngesikhathi sokukhulelwa, lezi zivivinyo zofuzo azidingeki futhi zingenziwa kuphela uma ufuna . Ungakhuluma nodokotela wakho ngalokhu bese unquma ukuthi yiziphi izivivinyo ezikulungele.

Konke emzimbeni wethu kulawulwa izakhi zofuzo zethu. Lezi zakhi zofuzo zigcinwa ezintweni ezibizwa ngokuthi ama-chromosome. Ngakho-ke, ngezinye izikhathi, uma kukhona izinguquko noma ukuntuleka kwalezi zakhi zofuzo noma ama-chromosome, izifo ezahlukahlukene zingavela. Sibiza lezo zimo ezikhona lapho kuzalwa ngokuthi ``(Izinkinga Zokuzalwa)''. Lezi zivivinyo zezakhi zofuzo zingabona ezinye zezimo ezinjalo ngisho nangaphambi kokuba umntwana azalwe.

Yiziphi lezi zinhlobo ezimbili zokuhlolwa? (Ukuhlolwa Kokuhlola Nokuxilonga)

Kulungile, manje ake sibone. Kunezinhlobo ezimbili eziyinhloko "zokuhlolwa kwezakhi zofuzo ngaphambi kokuzalwa".

1. Ukuhlolwa Kokuhlola: Lokhu kusetshenziselwa ukuthola ukuthi ingane yakho isengozini yokuba nesifo esithile sofuzo. Lokhu akusho ukuthi ingane inalesi sifo. Kodwa-ke, uma ingozi inkulu, udokotela wakho uzokutshela ukuthi yini okufanele uyenze ngokulandelayo.

2. Ukuhlolwa Kokuxilonga: Lokhu kuhlolwa kungaqinisekisa ukuthi ingane inesimo sofuzo noma cha. Lokhu kuvame ukwenziwa kuphela uma ukuhlolwa kokuhlolwa kubonisa ingozi, noma uma kukhona ingozi enkulu ngesinye isizathu.

Manje ake sixoxe ngezinhlobo ngazinye zalezi ngemininingwane ethe xaxa.

Ake siqale sibheke 'Ukuhlolwa Kokuhlola' (ukuhlolwa okubheka ingozi yombungu)

Into ebaluleke kakhulu okufanele uyikhumbule ukuthi lezi zivivinyo zokuhlola azisho ngokuqinisekile ukuthi kukhona isimo sofuzo. Ngisho noma umphumela ungavamile, akusho ukuthi ingane izoba nalesi simo nakanjani. Kusho ukuthi kunengozi ethile uma kuqhathaniswa nezinye. Udokotela wakho angakuchazela le miphumela futhi akuchazele ukuthi yiziphi izinyathelo okufanele uzithathe ngokulandelayo. Kwezinye izimo, bangase batuse nokuhlolwa kokuxilonga.

Kunezinhlobo eziningana zokuhlolwa kokuhlolwa:

1. Ukuhlolwa Kwabathwali - Ingabe unesifo esingadluliselwa enganeni yakho?

Lokhu ukuhlolwa kwegazi ongakuthatha wena nomlingani wakho. Kubheka izimo zezakhi zofuzo olulodwa ezingabangela izimo zempilo ezimbi ingane yakho engazizuza njengefa. Isibonelo, kungabona izimo ezifana ne-Cystic Fibrosis, iSickle Cell Disease, kanye ne-Spinal Muscular Atrophy.

Isibonelo, uma ukuhlolwa kwegazi lakho kubonisa ukuthi unesifo esithile sofuzo, kubaluleke kakhulu ukuthi umlingani wakho naye ahlolwe. Ngoba, uma abazali bobabili benesifo esifanayo sofuzo, umntwana cishe uzoba nohlobo olubi lwalesi sifo. Lokhu kuhlolwa "kokuHlola Abathwali" kwenziwa kanye kuphela empilweni.

2. Ukuhlolwa kwenombolo ye-chromosome engajwayelekile

Njengoba sesishilo kakade, sithola ama-chromosome ngamabili - elilodwa elivela kumama wethu nelinye elivela kubaba wethu. Ngezinye izikhathi, phakathi nale nqubo yokukhulelwa, kungenzeka amaphutha emvelo. Bese izingxenye ze-chromosome pair zingase zingabi khona noma zengezwe. Isibonelo, ``Down Syndrome`` (ukuba khona kwe-chromosome eyengeziwe 21) kanye ``Turner's Syndrome`` (ukuba khona kwe-chromosome X engekho). Imiphumela yalezi zivivinyo ingahluka kusukela ekukhulelweni kuya ekukhulelweni.

Kunezinhlobo eziningana zokuhlolwa:

• Ukuhlolwa kwe-DNA yomntwana osanda kuzalwa okungenamaseli: Lokhu kubizwa nangokuthi `(Non-Invasive Prenatal Testing)` noma `(NIPT)`. Lokhu kuhilela ukuthatha izingcezu ezincane ze-DNA yomntwana wakho (`fetal DNA`) egazini lakho bese ubheka ezinye izinkinga ezivamile ze-chromosome. Kodwa-ke, ngenxa yokuthi inani le-DNA yalo mntwana lincane kakhulu, lokhu kuhlolwa kungenziwa kuphela ngemva kwamasonto ayi-10 okukhulelwa.
• Ukuhlolwa kwe-serum: Lokhu futhi ukuhlolwa okuthatha isampula yegazi lakho. Kodwa-ke, akubheki ngqo i-DNA yengane. Kunalokho, kuhlaziya amazinga amaprotheni ahlukene egazini lakho ukuze kutholakale ingozi yakho yokuthola ukukhubazeka kwe-chromosome. Izibonelo zalokhu zifaka phakathi `(Ukuhlolwa okulandelanayo)`, `(Ukuhlolwa kwe-Quad)` kanye `(Ukuhlolwa kwe-serum kwe-First Trimester)`. Ukuhlolwa ngakunye kwalokhu kudinga ukwenziwa ngesikhathi esithile ngesikhathi sokukhulelwa, ngakho-ke kungumqondo omuhle ukubuza udokotela wakho ukuthi yikuphi okufanele wena. Lokhu kuhlolwa ngokuvamile kungenziwa ngemva kwamasonto ayi-11 okukhulelwa.

3. Ukuhlolwa kwezimo ezingavamile emzimbeni

Ngezinye izikhathi, ukukhubazeka kwe-chromosome kungabangela izinguquko esakhiweni somzimba wengane. Noma, noma ngabe ama-chromosome ajwayelekile, ingane ingaba nesici somzimba. Ukuhlolwa kwe-ultrasound kanye negazi okwenziwe ngesikhathi sokukhulelwa kunganikeza umbono wengozi yengane yokuthola ukukhubazeka okunjalo ngokomzimba nokuthi ngabe kungenxa yezimbangela zofuzo.

• I-Nuchal Translucency (i-NT scan):Lokhu kuhlolwa kwe-ultrasound kulinganisa ubukhulu besikhumba ngemuva kwentamo yombungu. Uma lobu bukhulu buphakeme kakhulu, kungabonisa ingozi yokukhubazeka kwe-chromosome, kanye nezinkinga zomzimba ezifana nokukhula okungavamile kwenhliziyo yomntwana. Lokhu kuhlolwa kwe-ultrasound kwenziwa phakathi kwamasonto ayi-11 kuya kwayi-14 okukhulelwa.
• Ukuhlolwa kwe-AFP (isikrini se-serum yomama): Kuthathwa isampula yegazi lakho bese kulinganiswa izinga leprotheni ebizwa ngokuthi i-AFP (Alpha-fetoprotein). Uma leli zinga liphezulu kakhulu, lingabonisa ukuthi kungase kube nezinkinga ezithile zomzimba esiswini, ebusweni, noma emgogodleni womntwana. Lokhu kwenziwa phakathi kwamasonto ayi-15 nama-22.
• Isikrini se-Quad: Lokhu kulinganisa amazinga ezinto ezine egazini lakho ukuze kutholakale ingozi yokuthi ingane yakho ibe nokukhubazeka kwe-chromosome kanye nokukhubazeka kwe-neural tube. Lokhu kubizwa nangokuthi ``Isikrini Sokumaka Okuningi''. Lokhu kwenziwa futhi phakathi kwamasonto ayi-15 nama-22.
• Ukuskena kwe-anatomy yengane esanda kuzalwa: Lokhu yilokho abantu abaningi abakwaziyo ngokuthi "i-Anomaly Scan". Kulokhu, kusetshenziswa i-ultrasound ukuhlola izakhiwo zomzimba wengane, okuhlanganisa ubuchopho obukhulayo, uhlaka lwamathambo, inhliziyo, izinso, isisu, ubuso, kanye nemilenze. Le ultrasound ivame ukwenziwa phakathi kwamasonto ayi-18 nama-20 okukhulelwa.

Okubalulekile: Futhi, lezi zivivinyo zokuhlola zibonisa kuphela ukuthi kungenzeka isimo. Azibonisi ngokusobala ukuthi kukhona isifo.

Kuyini 'Ukuhlolwa Kokuxilonga'? (Ukuhlolwa kokuthola ukuthi kukhona yini isifo)

Ukuhlolwa kokuxilonga kungaqinisekisa ukuthi ingane inesifo sofuzo. Lokhu kuhlolwa kwenziwa kuphela uma imiphumela yokuhlolwa kokuhlolwa ingavamile, noma uma unezinye izizathu zokucabanga ukuthi ingane yakho isengozini enkulu yokuba nesimo sofuzo (isibonelo, othile emndenini wakho unalesi simo).

Izinhlobo ezimbili ezivame kakhulu zokuhlolwa kokuxilonga yi-`(Amniocentesis)` kanye ne-`(Chorionic Villus Sampling / CVS)`.

• I-Amniocentesis: Kulolu vivinyo, udokotela ufaka inalithi encane esikhumbeni sakho esibelethweni sakho bese ethatha isampula encane yoketshezi lwe-amniotic oluzungeze ingane yakho. Lolu vivinyo lwenziwa phakathi kwamasonto ayi-16 nama-20 okukhulelwa.
• Ukusampula Kwe-Chorionic Villus (CVS): Kulolu vivinyo, udokotela ufaka inalithi esibelethweni bese ethatha isampula encane yamaseli avela ku-placenta. Udokotela uzonquma ukuthi uzoyifaka yini inalithi esiswini noma ngesitho sangasese sowesifazane, kuye ngokuthi yikuphi okuphephile. Ukuhlolwa kwe-CVS kwenziwa phakathi kwamasonto ayi-11 kuya kwayi-13 okukhulelwa.

Amasampula abe esethunyelwa elabhorethri ukuze ahlaziywe. Ilabhorethri ingenza izivivinyo ezikhethekile ezifana ne-Fluorescence In Situ Hybridization (FISH), i-Karyotyping ejwayelekile, kanye ne-Microarray. Ezinye izivivinyo zokuxilonga zinganikeza imiphumela emahoreni angu-72 kuphela, kanti ezinye zingathatha isikhathi esingaphezu kwamasonto amabili.

Ingabe kufanele kwenziwe lokhu kuhlolwa kwezakhi zofuzo? Ubani okufanele akwenze lokhu?

Ukuthi uzobhekana nalokhu "Ukuhlolwa Kwezakhi Zofuzo Ngaphambi Kokuzalwa" kuyisinqumo sakho ngokuphelele. Uma ungaqiniseki, ungabuza udokotela wakho ukuthi yini ayincomayo. Imiphumela yalezi zivivinyo inganikeza ulwazi olubaluleke kakhulu mayelana nempilo yengane. Ngokuvamile, bonke abesifazane abakhulelwe baziswa ngalezi zivivinyo zokuhlolwa kwezakhi zofuzo njengengxenye yokunakekelwa kwabo kwangaphambi kokubeletha.

Ezinye zezizathu ezenza eminye imindeni inqume ukwenza izivivinyo zokuxilonga yilezi:

• Ukuthola umphumela ongavamile ekuhlolweni kokuhlolwa.
• Ukuba nomlando womndeni wesifo sofuzo.
• Ukukhulelwa okungaphezu kweminyaka engama-35.
• Ukuba nokukhulelwa kwesisu noma ukubeletha ingane ifile ngaphambilini.

Ingabe kuyadingeka ukwenza lezi zivivinyo ngesikhathi sokukhulelwa?

Cha, akudingekile. Kuyisinqumo esisekelwe ezinkolelweni zakho kanye nomlando wezokwelapha. Abanye abazali bathanda ukwazi kusengaphambili ukuthi ingane yabo izozalwa inesimo esithile. Lokhu kubavumela ukuthi bahlele ukunakekelwa kwengane yabo kusenesikhathi. Ngeshwa, eminye imindeni ingaba nemiphumela edabukisayo kakhulu, futhi kungase kudingeke ukuthi yenze isinqumo esinzima sokuthi iqhubeke nokukhulelwa. Ngakho-ke, ukuthi kufanele yini lokhu kuhlolwa noma ukuhlolwa kokuxilonga kuxhomeke kuwe nodokotela wakho.

Lezi zivivinyo zenziwa kanjani?

Iningi lokuhlolwa kwe-`(Ukuhlolwa Kwezakhi Zofuzo Kwangaphambi Kokuzalwa)` kwenziwa ngesampula yegazi elivela kumama okhulelwe. Uma imiphumela yokuhlolwa kokuhlolwa ikhombisa ukuthi kunobungozi obukhulu bokukhubazeka kokuzalwa, udokotela angenza ukuhlolwa okujulile okwengeziwe (``ukuhlolwa okungenayo``) ukuze abone izimo ezithile. Lokhu kuhlolwa okujulile kokuxilongwa yi-``(Amniocentesis)`` kanye ne-``(CVS)``.

Yiziphi izivivinyo ezenziwa emavikini ahlukene okukhulelwa?

Lokhu kuyinkinga futhi kubantu abaningi.

Ukuhlolwa kwe-First Trimester (phakathi nezinyanga ezintathu zokuqala)

Ukuhlolwa kwe-serum kwe-trimester yokuqala, ukuhlolwa kwe-DNA yengane engenamaseli (i-NIPT), kanye ne-ultrasound ye-NT konke kwenziwa phakathi kwamasonto ayi-11 kuya kwangu-14 okukhulelwa. Ngokuhlanganisa ulwazi oluvela kulezi zivivinyo zegazi kanye ne-ultrasound, ungathola umbono wengozi yezifo ezivamile ze-chromosome njenge-Down Syndrome.

"Ukuhlolwa kwabathwali" kungenziwa nganoma yisiphi isikhathi ngesikhathi sokukhulelwa kwakho, ngisho noma uneminyaka engu-6-10. Lokhu kuhlolwa kubheka izimo "zesakhi sofuzo esisodwa" ongazidlulisela enganeni yakho. Kodwa-ke, "Ukuhlolwa kwabathwali" akukwazi ukubona izimo ezibangelwa ukungasebenzi kahle kwe-chromosome, njenge-"Down Syndrome".

Ukuhlolwa kwe-DNA yengane engenamaseli (i-NIPT) kuhlola i-DNA yengane egazini lakho. Kubheka izimo ze-chromosome ezifana ne-Down Syndrome, i-Trisomy 13, kanye ne-Trisomy 18. Lokhu kuhlolwa kungenziwa emavikini ayi-10 okukhulelwa, noma kamuva ekukhulelweni.

Ukuhlolwa kweTrimester Yesibili (phakathi kwezinyanga ezi-4-6)

Ukuhlolwa kokuhlolwa kwekota yesibili kwenziwa phakathi kwamasonto ayi-15 nama-22 okukhulelwa. Ukuhlolwa kwegazi okwenziwa ngalesi sikhathi yi-`(Maternal Serum Alpha-Fetoprotein / AFP screen)` kanye ne-`(Quad screen)`. I-`(Quad screen)` ithola igama layo ngoba ilinganisa izinhlobo ezine zamaprotheni (`Alpha-fetoprotein / AFP`, `Estriol`, `Human Chorionic Gonadotropin / hCG` kanye ne-`Inhibin-A`). Lokhu kuhlolwa kusiza udokotela wakho ukuthi anqume ukuthi ingane yakho isengozini enkulu yokuba nezinkinga zofuzo noma zomzimba. `(Fetal anatomy ultrasound)` (Anomaly scan) ingenye indlela yokuhlola engabheka izinkinga zofuzo noma zomzimba enganeni yakho.

Ingabe lokhu kuhlolwa 'kokuhlola' izimo ezifana ne-Down Syndrome kungaba yiphutha?

Yebo, kuhlale kukhona ithuba lokuthi ukuhlolwa kokuhlolwa kuzoba okungalungile. Okusho ukuthi, ngezinye izikhathi kungaba khona ingozi yize ithi ayikho ingozi, futhi ngezinye izikhathi kungaba khona ingozi yize ithi ayikho ingozi (lokhu kubizwa ngokuthi 'okuyiqiniso okungamanga' kanye 'nokungamanga okungalungile'). Udokotela wakho angachaza amazinga okunemba ('amazinga okunemba') kwanoma yikuphi ukuhlolwa kokuhlolwa okwenzayo ngesikhathi sokukhulelwa.

Ingabe zikhona izingozi ngalezi zivivinyo?

Ukuhlolwa kokuhlolwa (ukuthatha isampula yegazi) akubhekwe njengokuyingozi. Kodwa-ke, uma uya kokuhlolwa kokuxilonga okufana ne-"Amniocentesis" noma "CVS", kunengozi encane kakhulu . Lezo zingozi ukutheleleka, ukopha, noma ukuphuphuma kwesisu. Yingakho lokhu kuhlolwa kokuxilonga kungenzelwa wonke umuntu ngokujwayelekile "Ukuhlolwa Kofuzo Kwangaphambi Kokuzalwa", kodwa kuphela kulabo abasola kakhulu.

Kuthatha isikhathi esingakanani ukuthi imiphumela ibuye? Isho ukuthini imiphumela?

Ukuhlolwa kokuhlolwa kuthatha izinsuku ezimbalwa ukuthola imiphumela. Ukuhlolwa kokuxilonga kungathatha izinsuku ezimbalwa kuya emavikini ambalwa ukuthola imiphumela. Esikhathini esiningi, lawa masampula athunyelwa elabhorethri ukuze ahlolwe. Udokotela wakho uzothola imiphumela kuqala, bese ekutshela imiphumela.

Imiphumela yokuhlolwa kokuhlolwa ikhombisa ingozi kuphela. Ayikutsheli ngokuqinisekile ukuthi ingane inesimo sofuzo.

• Uma kutholakala umphumela omuhle , kusho ukuthi umntwana usengozini enkulu yokuthola leso sifo kunabantu abaningi.
• Uma kutholakala umphumela ongemuhle , kusho ukuthi ingane isengozini encane yokuthola leso sifo kuneningi labantu.

Udokotela wakho angase asikisele ukuhlolwa kokuxilonga, njenge-CVS noma i-amniocentesis. Noma, bangase bakuthumele kumeluleki wezakhi zofuzo, ochwepheshe bokukhulelwa okuyingozi kakhulu kanye nezimo zofuzo. Ungesabi ukukhuluma nodokotela bakho ngalokho okushiwo yimiphumela yokuhlolwa kwakho kanye nezingozi nezinzuzo zokuhlolwa kokuxilonga.

Ingabe ubulili bomntwana bungatholakala ngalezi zivivinyo?

Ngaphezu kokunikeza ulwazi mayelana nengozi yezimo zofuzo, ukuhlolwa "kokuhlolwa kwe-DNA okungenamaseli / i-NIPT" kunganikeza nolwazi mayelana nobulili bomntwana. "I-Ultrasound" ngezinye izikhathi inganquma ubulili. Kodwa-ke, lokhu kumane kuyinzuzo eyengeziwe, hhayi isizathu esiyinhloko sokuhlolwa.

Yini okufanele ngiyibuze udokotela ngalezi zivivinyo zofuzo?

Ukuhlolwa nokuhlolwa kokuxilonga ngesikhathi sokukhulelwa kuyisinqumo somuntu siqu. Ungase ube nemibuzo mayelana nokuthi yiziphi izivivinyo zokuhlolwa okufanele uzenze noma ukuthi imiphumela yakho yokuhlolwa isho ukuthini. Ungesabi ukubuza imibuzo. Khumbula, nguwe nomndeni wakho kuphela eninganquma ukuthi ningabhekana kanjani nemiphumela emihle evela kuzo zombili izinhlobo zokuhlolwa kofuzo.

Eminye imibuzo evamile ongayibuza:

• "Yiziphi izivivinyo zokuhlolwa ozincomayo ngokusekelwe emlandweni wami wezempilo?"
• "Uma imiphumela yokuhlolwa kwami ​​​​kokuhlolwa ithi 'Iyaphila', yiziphi izinyathelo ezilandelayo?"
• "Ingabe lokhu kuhlolwa kofuzo kungamlimaza umntwana?"
• "Yimaphi amathuba okuba nemiphumela emibi engamanga?"

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ayikho impendulo efanele noma engalungile mayelana nokuhlolwa kwezakhi zofuzo kwangaphambi kokuzalwa. Isinqumo sixhomeke kuwe nomndeni wakho. Uma ukhathazekile ngalezi zivivinyo, noma uma ufuna ukuqonda ukuthi ukuhlolwa ngakunye kuzobheka ini, khuluma nodokotela wakho. Angaxoxa nawe ngezingozi nezinzuzo zokuhlolwa ngakunye kwezakhi zofuzo futhi akusize wenze isinqumo esingcono kakhulu kuwe nomndeni wakho.

Khumbula, iningi lezinsana lizalwa liphilile. Kodwa-ke, kubalulekile ukuqonda ukuthi yiziphi izinketho zakho nokuthi yiziphi izivivinyo zofuzo ezitholakalayo kuwe. Udokotela wakho ungumqondisi wakho ongcono kakhulu kulolu hambo.

Ukukhulelwa , ukuhlolwa kofuzo, impilo yomntwana, ukuhlolwa kwengane esanda kuzalwa, ukuhlolwa kokuhlolwa, ukuhlolwa kokuxilonga, i-Down syndrome, i-ultrasound