Ingabe ingane yakho inenkinga yokukhula kobuchopho? Funda nge-Holoprosencephaly (HPE)

Amazwi awakwazi ukuveza injabulo nothando esiluzwayo lapho sibheka umntwana osanda kuzalwa, akunjalo? Kodwa ngezinye izikhathi, izingane zethu zingafika kuleli zwe zinezinkinga zempilo esingazilindele. Namuhla, sizokhuluma ngesici sokuzalwa esiyinkimbinkimbi kancane, kodwa okufanele sisiqaphele.

Kuyini i-Holoprosencephaly (HPE)?

Kalula nje, iHoloprosencephaly, eyaziwa nangokuthi i-HPE, yisimo sokuzalwa esenzeka ngesikhathi umntwana esesesibelethweni. Lesi yisici sokuzalwa. Kulesi simo, ubuchopho bomntwana osanda kuzalwa abuhlukani kahle bube yizingxenye zesokudla nesobunxele njengoba bukhula. Ubuwazi ukuthi ubuchopho bethu buvame ukuhlukaniswa bube izingxenye ezimbili eziyinhloko, ingxenye yesokudla kanye nengxenye yesobunxele. Lawa ma-hemisphere amabili axhumene futhi ashintshana ngolwazi ngenqwaba yezintambo zezinzwa ezibizwa ngokuthi i-corpus callosum. Futhi, ngayinye yalezi zingxenye ihlukaniswe ibe ezinye izingxenye, njenge-frontal lobe, i-parietal lobe, i-occipital lobe, kanye ne-temporal lobe.

Lokhu kuhlukaniswa kobuchopho kube izingxenye kubaluleke kakhulu. Ngoba lokhu kuhlukaniswa kusiza ubuchopho ukuthi bucubungule ulwazi oluningi ngesikhathi esisodwa futhi benze imisebenzi ehlukene. Ngakho-ke, njengasendabeni ye-`(HPE)`, uma lokhu kuhlukaniswa kungenzeki ngesikhathi ubuchopho bukhula kahle, kungabangela izinkinga eziningi ezihlobene nomzimba kanye nesistimu yezinzwa.

Lesi simo, esibizwa ngokuthi ‘i-HPE’, senzeka ekuqaleni kakhulu kokukhula kwengane esanda kuzalwa. Lokhu kusho ukuthi kungenzeka ngisho nangaphambi kokuba wazi ukuthi ukhulelwe. Kunezinhlobo ezahlukene ze-holoprosencephaly, futhi ubukhali bazo kanye nezimpawu ziyahlukahluka. Indlela lesi simo esithinta ngayo ingane ngayinye nayo ingahluka.

Yiziphi izinhlobo eziyinhloko ze-holoprosencephaly (HPE)?

Kunezinhlobo ezintathu eziyinhloko ze-holoprosencephaly (HPE). Ake sizibheke ngokulandelana kusukela kweziningi kuya kwezingakabi zimbi kakhulu:

I-holoprosencephaly ye-Alobar

Lolu uhlobo olunzima kakhulu . Okwenzekayo lapha ukuthi ubuchopho bombungu abuhlukani nhlobo bube yizingxenye ezimbili. Ngenxa yalokho, izakhiwo eziphakathi kobuchopho nobuso ziyalahleka, futhi imigodi yobuchopho iyahlangana. Kanye nalokhu, kubonakala ukukhubazeka okukhulu kobuso. Ngokuvamile, izingane ezinalolu hlobo lwe-`(HPE)` zizalwa zifile noma zife ngokushesha ngemva kokuzalwa.

I-Semilobar holoprosencephaly

Kulolu hlobo, ubuchopho bombungu buhlukaniswe kancane kancane baba ama-hemispheres amabili . Lokhu kwenzeka ngoba uhlangothi lwesobunxele lobuchopho luxhunywe ohlangothini lwesokudla ezindaweni ezibizwa ngokuthi "ama-frontal lobes" kanye "nama-parietal lobes". Futhi, umugqa ohlukanisayo phakathi kwama-hemispheres kwesokudla nesobunxele bobuchopho, "umfantu we-interhemispheric," usemuva kobuchopho kuphela.

I-holoprosencephaly ye-Lobar

Kulolu hlobo, ubuchopho bombungu buhlukaniswe kakhulu ngama-hemispheres amabili., kodwa azikahlukaniswa ngokuphelele. Nakuba kunezingqimba ezimbili (kwesokudla nakwesobunxele), izingqimba zobuchopho zixhunywe ndawonye ku-"frontal cortex". Lolu uhlobo oluncane kakhulu lwe-``(HPE)``.

Uhlobo lwe-Middle Interhemispheric (MIH)

Ngaphezu kwalezi zinhlobo ezintathu eziyinhloko, kukhona uhlobo lwesine olubizwa ngokuthi i-Middle Interhemispheric (MIH). Yilapho ubuchopho bombungu buxhunywa khona phakathi nendawo.

Uyini umehluko phakathi kwe-hydranencephaly ne-holoprosencephaly?

Ungase udideke ngala magama amabili. I-Hydranencephaly kanye ne-holoprosencephaly zombili ziyiziphambeko zokuzalwa ezithinta ubuchopho bomntwana, kodwa kukhona umehluko phakathi kwala magama amabili.

I-Hydranencephaly ukulahleka kwengxenye yobuchopho bomntwana wakho. Lesi yisimo esingavamile kakhulu esibizwa ngokuthi i-hydrocephalus (ikhanda lamanzi). Izingane ezinalesi simo zivame ukuba nekhanda elikhulu.

Kodwa-ke, i-Holoprosencephaly yilapho ubuchopho bungahlukani kahle bube yizingxenye zesobunxele nesokudla ngesikhathi sokukhulelwa. Uyawuqonda lowo mehluko?

Lesi simo sithinta bani? Kuvamile kangakanani?

I-Holoprosencephaly (HPE) yisimo esithinta imibungu esakhula esibelethweni. Ngokuvamile kwenzeka phakathi nesonto lesibili nelesithathu lokukhula kwengane. Lokhu kusho ukuthi kaningi ngaphambi kokuba wazi ukuthi ukhulelwe.

Abacwaningi balinganisela ukuthi i-holoprosencephaly ithinta cishe ingane eyodwa kwezingu-250 ngesikhathi sokuqala kokukhulelwa (emasontweni esibili nawesithathu okukhulelwa). Kodwa-ke, iningi lalezi zikhulelwa ligcina ngokuphuphuma kwesisu noma ukuzalwa kwengane isishonile.

Ngakho-ke, i-holoprosencephaly iyisimo esingavamile ekuzalweni okuphilayo, esenzeka cishe koyedwa kwabangu-16,000 abazalwa bephila.

Ziyini izimpawu ze-holoprosencephaly (HPE)?

Ngenxa yokuthi kunezinhlobo ezahlukene ze-holoprosencephaly (HPE), ubukhulu kanye nezimpawu kungahlukahluka kakhulu. Lokhu kusho ukuthi lezi zimpawu zingahluka kuye ngengane.

Izimpawu ezivamile

Izimpawu ezivamile ezihlobene ne-HPE zifaka:

• Ukulibaziseka kokukhula.
• Ukukhubazeka kwengqondo.
• Isithuthwane kanye nokuxhuzula.
• Ukuba nekhanda elincane (i-microcephaly).
• Ukuba nekhanda elikhulu (i-macrocephaly).
• Ukuqongelela uketshezi ngokweqile ebuchosheni (i-hydrocephalus).
• Ukukhubazeka kobuso .
• Ukukhubazeka kwamazinyo (isibonelo, ukuba ne-incisor eyodwa ephakathi).
• Umlomo oqhekekile kanye/noma ulwanga.
• Ubunzima bokulawula izinga lokushisa lomzimba, ukushaya kwenhliziyo, kanye nokuphefumula.
• Ubunzima bokudla.

Izici ze-Alobar HPE

Lolu uhlobo olubi kakhulu, ngakho-ke izimpawu zimbi kakhulu:

• Ukuba neso elilodwa (i-cyclopia), ukuba namehlo asondelene kakhulu (i-ethmocephaly), noma ukungabi namehlo nhlobo (i-anophthalmia).
• Ukuba namabhola amehlo amancane kakhulu (i-microphthalmia) kanye nekhala elifana nepayipi (i-proboscis).
• Impumulo eyisicaba enamehlo asondelene (i-orbital hypotelorism) noma i-cleft lip eyenzeka phakathi kwendebe (median cleft lip) noma kuzo zombili izinhlangothi (bilateral cleft lip).

Izici ze-Semilobar HPE

• Amehlo asondelene (i-orbital hypotelorism), amabhola amehlo amancane kakhulu (i-microphthalmia), noma iso elilodwa noma ngaphezulu (i-anophthalmia).
• Ukugoba kwebhuloho kanye nechopho lekhala.
• Ikhala elilodwa.
• Umlomo ophakathi nendawo noma umlomo ohlangene ohlangene.
• Ulwanga oluqhekekile.

Izici ze-Lobar HPE

Lolu uhlobo olungelubi kakhulu, kodwa ungase ubone lezi zimpawu:

• Umlomo oqhekekile ozinhlangothi zombili.
• Ukusondela kwamehlo.
• Impumulo eyisicaba noma etshonile.

Lesi simo, esibizwa ngokuthi i-holoprosencephaly, singavela futhi njengengxenye yezifo eziningana ezahlukene zofuzo. Isifo ngasinye sinezimpawu zaso ezihlukile.

Yini ebangela i-holoprosencephaly (HPE)?

Ngokuvamile, ubuchopho bombungu buhlukana bube yizingxenye ezimbili ekuqaleni kokukhula. I-Holoprosencephaly (HPE) yenzeka lapho ingxenye engaphambili yobuchopho, i-prosencephalon, ingahlukani kahle ibe yizingxenye ezingakwesokudla nesobunxele. Okusho ukuthi, esikhundleni sokuthi izinhlangothi ezingakwesokunxele nezingakwesokudla zengxenye engaphambili yobuchopho zihlukane ngokuphelele, kukhona ukuxhumana okungavamile phakathi kwalezi ezimbili.

Ngokuqondile, i-holoprosencephaly ingabangelwa yi:

• Ukuguquka kwezakhi zofuzo kwenzeka okungenani ezigabeni ezingu-14 ezahlukene .
• Ukukhubazeka kwe-chromosome .
• Izifo ezithile zofuzo .

Kodwa-ke, ezimweni eziningi, odokotela abakwazi ukuthola imbangela eqondile.

Ukuguqulwa kwezakhi zofuzo

Ukuguquka kwezakhi zofuzo kuwushintsho ochungechungeni lwe-DNA yakho. Lolu chungechunge lwe-DNA lunikeza amangqamuzana akho ulwazi aludingayo ukuze enze imisebenzi yawo. Ngakho-ke, uma ingxenye yochungechunge lwe-DNA ingaphelele noma yonakele, ungase ube nezimpawu zesimo sofuzo.

Ingane ingazuza uguquko lwezakhi zofuzo komunye noma bobabili abazali, kuye ngokuthi uguquko ludluliselwa kanjani. Kodwa-ke, ezinye izinguquko zenzeka ngokungahleliwe, okusho ukuthi akekho emndenini onomlando walolu guquko.

Ososayensi baxhumanise ukuguquka kwezakhi zofuzo ezilandelayo nesimo (i-HPE):

• `SHH`
• `ISITHUPHA 3`
• `TGIF1`
• `ZIC2`
• `PTCH1`
• `FOXH1`
• `I-NODAL`
• `I-CDON`
• `FGF8`
• `I-GLI2`

Lezi zinguquko zibangela ukuthi izakhi zofuzo kanye namaprotheni eziwakhiqizayo angasebenzi kahle. Yilokhu okuthinta ukukhula kobuchopho bomntwana futhi kubangele i-holoprosencephaly.

Ukukhubazeka kwe-Chromosome

Sonke sinama-chromosome angu-46 emaseli ethu, ahlelwe ngamabili angu-23. La ma-chromosome aphethe i-DNA yethu. Kalula nje, aqukethe imiyalelo yokuthi imizimba yethu ikhule futhi isebenze. Sithola isethi eyodwa yama-chromosome kumama wethu kanye nesethi eyodwa kubaba wethu.

Cishe ingxenye eyodwa kwezintathu zezingane ezizalwa ne-holoprosencephaly zine-chromosome engavamile. I-chromosome engavamile evame ukuhlotshaniswa ne-HPE ukuba khona kwamakhophi amathathu e-chromosome 13, eyaziwa ngokuthi i-trisomy 13. I-Trisomy 18 (amakhophi amathathu e-chromosome 18) kanye ne-triploidy (ukuba khona kwama-chromosome angu-69 esitokisini esikhundleni sama-46 ajwayelekile) nakho kungabangela i-HPE.

Izifo zofuzo

Ngezinye izikhathi i-holoprosencephaly ingenzeka njengengxenye yezifo ezithile zofuzo ezibangela ezinye izinkinga zezokwelapha ngaphezu kwe-HPE.

Ezinye zezifo zofuzo ezihlobene ne-HPE yilezi:

• `(Isifo sikaHartsfield)`
• `(Isifo sikaKallman sesibili)`
• `(Isifo sikaSteinfeld)`
• `(Isifo sikaSmith-Lemli-Opitz)`
• `(Isifo se-Stromme)`

Itholakala kanjani i-holoprosencephaly (HPE)?

Odokotela bavame ukuxilonga i-holoprosencephaly (HPE), ikakhulukazi izimo ezimbi kakhulu, ngaphambi kokuba umntwana azalwe, besebenzisa i-ultrasound scan ngaphambi kokubeletha. Lesi simo singaxilongwa futhi ngaphambi kokubeletha nge-MRI yengane (Magnetic Resonance Imaging).

Nakuba lezi zivivinyo zokuthatha izithombe ngaphambi kokubeletha zingabona i-HPE, i-HPE ivame ukutholakala ngemva kokuzalwa komntwana , lapho kuvela izinkinga zobuso noma izinkinga zezinzwa. Ukuhlolwa kokuthatha izithombe ekhanda bese kwenziwa ukuqinisekisa ukuxilongwa.

Izingane ezinezinhlobo ezincane kakhulu ze-holoprosencephaly zingase zingatholakali kuze kube yilapho sezinonyaka owodwa ubudala. Ezimweni ezinjalo, ukubambezeleka kokukhula kungaba yinkomba yokuthi kungase kube nenkinga ohlelweni lwezinzwa. Odokotela bazo-oda ukuhlolwa kwezithombe zobuchopho.

Ukuhlolwa kokuxilonga

Odokotela basebenzisa izivivinyo ezilandelayo zezithombe ukuze bathole i-holoprosencephaly ngemva kokuzalwa komntwana:

• I-Ultrasound yekhanda: I-Ultrasound (ebizwa nangokuthi i-sonography) iwukuhlolwa kwezithombe okungenabuhlungu, okungahlaseli okusebenzisa amaza omsindo avame kakhulu ukukhiqiza izithombe noma amavidiyo aphilayo ezicubu ezifana nezitho zangaphakathi noma imithambo yegazi.
• Ukuskena kobuchopho nge-magnetic resonance imaging (MRI):I-MRI scan nayo iyisivivinyo esingenabuhlungu. Ingenza izithombe ezicacile zezakhiwo nezicubu ebuchosheni bengane yakho. I-MRI isebenzisa i-magnet enkulu, amaza omsakazo, kanye nekhompyutha. Ayisebenzisi i-X-ray (imisebe).
• I-Head computed tomography (CT) scan: I-CT scan iyisivivinyo esisebenzisa ama-X-ray kanye nekhompyutha ukudala izithombe eziningi ezinezinhlangothi ezintathu (3D) zengxenye yomzimba ehlolwayo (kulokhu, ikhanda nobuchopho bengane yakho).

Uma kungenzeka, odokotela bazokwenza izifundo ze-DNA, okuhlanganisa ukuhlaziywa kwama-chromosome, ukuhlolwa kwe-cytogenetic kanye nama-molecule, ukuze kutholakale imbangela eqondile ye-HPE.

Uma ukuhlolwa kwezakhi zofuzo kwembula inkinga ye-chromosome noma yezakhi zofuzo ehlotshaniswa ne-holoprosencephaly, udokotela wakho angase akuncome ukuthi ufune ukwelulekwa kwezakhi zofuzo uma uhlela ukuba nomunye umntwana.

Yiziphi izindlela zokwelapha i-holoprosencephaly (HPE)?

Ngokudabukisayo, okwamanje akukho ikhambi noma ukwelashwa okukhulu kwesimo se-holoprosencephaly (HPE). Esikhundleni salokho, odokotela belapha ingane ngayinye nge-HPE ngokusekelwe ezimpawini zayo ezithile. Lokhu kusho ukuthi izinketho zokwelapha ziyahlukahluka kuye ngengane.

Lokhu kwelashwa kungadinga imizamo ehlangene yeqembu lochwepheshe abahlukene, okuhlanganisa:

• Odokotela bezingane
• Odokotela bezinzwa
• Odokotela be-Endocrinologists
• Odokotela abahlinzayo bepulasitiki
• Abelaphi bomsebenzi kanye nomzimba
• Ithimba lokunakekelwa kwe-palliative
• Ithimba lokunakekelwa okuyinkimbinkimbi

Abantu abanjengalaba bangaba khona.

Ukwelashwa okuvamile

Nazi ezinye zezindlela zokwelapha ezisetshenziswa kakhulu ze-HPE:

• Imithi yokulwa nokuquleka yokuvimbela, ukunciphisa, noma ukulawula ukuquleka.
• Uma ingane yakho ine-hydrocephalus, ingelashwa nge-ventriculoperitoneal (VP) shunt.
• Imithi kanye nokwelashwa ngokomsebenzi nangokomzimba kungasiza ngezinkinga zokunyakaza njengokuqina kwemisipha (ukuqaqamba kwemisipha) kanye nokunyakaza okungenangozi (i-dystonia).
• Ukuhlinzwa kokulungisa kabusha izindebe eziqhekekile kanye nolwanga noma ezinye izici zobuso.
• Imithi yokwelapha ukungalingani kwama-hormone e-pituitary gland.
• Ukuthatha izinyathelo zokuthuthukisa ukudla okunomsoco kwezingane ezinezinkinga zokudla. Isibonelo, ukuphakela ngepayipi esiswini (ithubhu ye-gastrostomy - ithubhu ye-G).

Konke lokhu kwenzelwa ukunikeza ingane impilo engcono kakhulu.

Ingabe i-holoprosencephaly (HPE) ingavinjelwa?

Ngeshwa, i-holoprosencephaly (HPE) iyenzekaAmacala amaningi awakwazi ukuvinjelwa. Lokhu kungenxa yokuthi avame ukubangelwa izinkinga zofuzo "ezifihliwe" ezizuzwe njengefa. Uma uhlela ukuba nomntwana, kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo ukuze uqonde ingozi yengane yakho yokuba nesimo sofuzo noma ukuguqulwa kofuzo okuzuzwe njengefa, njenge-HPE.

Kodwa-ke, ososayensi bathole ezinye izici eziyingozi ezingase zandise amathuba okuba ingane esanda kuzalwa ibe ne-holoprosencephaly. Lezi zifaka:

• Ukuba nesifo sikashukela: Uma wawunesifo sikashukela sohlobo 1 noma sohlobo 2 ngaphambi kokuba ukhulelwe, ungase ube sengozini enkulu yokuthola umntwana one-HPE. Lokhu akufanele kudidaniswe nesifo sikashukela sokukhulelwa, esenzeka ngesikhathi sokukhulelwa.
• Ukuntuleka kwe-folate (folic acid): I-Folate, uhlobo lwemvelo lwe-vitamin B9, ibalulekile ekukhuleni okunempilo kwengane esanda kuzalwa, ikakhulukazi ubuchopho nomgogodla. Ukuntuleka kwe-folate ngaphambi nangesikhathi sokukhulelwa kungandisa ingozi yokuthola umntwana one-HPE.
• Ukuchayeka kuma-teratogens: Ama-teratogens yizinto noma izici ezibangela izinkinga ekukhuleni kwengane futhi ziholele ekuzalweni okukhubazekile. Ukuchayeka kuma-teratogens, njenge-ethanol (utshwala), i-retinoic acid, kanye nama-mycotoxins (ubuthi besikhunta) okuvela ekudleni, kungandisa ingozi yokuthola umntwana one-holoprosencephaly.

Ngakho-ke, kubaluleke kakhulu ukulandela indlela yokuphila enempilo, ukudla ukudla okunempilo, nokulandela iseluleko sezokwelapha ngesikhathi nangaphambi kokukhulelwa.

Iyini iphrojekthi ye-holoprosencephaly (HPE)?

Umbono, noma isibikezelo, se-holoprosencephaly (HPE) siyahlukahluka kuye ngokuthi isimo sibucayi kangakanani kanye nembangela ethile.

Umbono we-HPE ephakathi nendawo kuya kwenzima ngokuvamile mubi. Zimbalwa kakhulu izingane ezine-HPE ephakathi nendawo kuya kwenzima ezisindayo zize zibe ngabantu abadala. Izingane ezine-HPE ephakathi nendawo zivame ukusinda zize zibe ngabantu abadala, kodwa zivame ukuphila nezinkinga zezokwelapha ezihlobene ne-HPE.

Izingane eziningi ezine-holoprosencephaly zidinga imithi yansuku zonke kanye nokwelashwa ukuze kuvinjelwe ukuquleka kanye nokwelapha ezinye izinkinga.

Isikhathi sokuphila

Isikhathi sokuphila somuntu one-holoprosencephaly (HPE) sincike ohlotsheni lwe-HPE analo kanye nembangela eyisisekelo yalesi simo.

Izinsana ezine-Alobar HPE (uhlobo olubi kakhulu) zivame ukufa njengezingane ezizalwa zishonile, kungaba ngemva nje kokuzalwa noma zingakapheli izinyanga eziyisithupha zokuqala zokuphila.

Izingane ezingaphezu kuka-50% ezine-semilobar noma i-lobar HPE, futhi ezingenazo ezinye izinkinga zomzimba, ziphila okungenani izinyanga ezingu-12.

Izingane ezinezimo ezincane ze-HPE zivame ukusinda zize zibe ngabantu abadala.

Uma ingane yami ine-holoprosencephaly (HPE), yini okufanele ngiyilindele?

Lokhu kubaluleke kakhulu. Khumbula ukuthi azikho izingane ezimbili ezine-holoprosencephaly (HPE) ezithinteka ngendlela efanayo. Ayikho indlela yokwazi ngokuqinisekile ukuthi ingane yakho izothinteka kanjani. Into engcono kakhulu ongayenza ukuze ulungiselele ikusasa ukukhuluma nochwepheshe abacwaninga futhi belapha i-holoprosencephaly. Bangakunikeza ulwazi olwengeziwe ngalokhu.

Ngingamnakekela kanjani umntwana wami one-holoprosencephaly (HPE)?

Ukuze usize ekunakekeleni ingane yakho ene-holoprosencephaly (HPE), landela lawa macebiso avela kodokotela bayo:

• Nikeza noma yimiphi imithi oyinikezwe njengoba kuyalelwe.
• Bheka ukuhlolwa kokuthuthukiswa kanye nokwelashwa.
• Qiniseka ukuthi uya khona kuzo zonke izinkambo zokwelashwa ezilandelanayo.

I-Holoprosencephaly ingabangela izinkinga zengqondo, ze-neurologic, kanye/noma ze-motor. Izingane eziningi ezine-HPE zinezinkinga zokukhula futhi zingadinga usizo ngemisebenzi yansuku zonke kukho konke ukuphila kwazo.

Ithimba lezokwelapha lengane yakho lingaphendula imibuzo yakho futhi likunikeze ukwesekwa. Bangakuqondisa futhi emaqenjini okusekela endaweni yakini noma ku-inthanethi. Khumbula ukuthi awuwedwa.

Kufanele ngimbone nini udokotela wengane yami?

Uma ingane yakho itholakale ine-holoprosencephaly (HPE), kuzodingeka ibone ithimba layo lezokwelapha njalo ukuqinisekisa ukuthi ukwelashwa kwayo kuyasebenza futhi ihlole intuthuko yayo.

Ukuthola ukuthi ingane yakho ine-holoprosencephaly kungaba nzima ukubhekana nayo. Kodwa yazi ukuthi awuwedwa. Kunezinsiza eziningi ezitholakalayo zokusiza wena nomndeni wakho. Kubalulekile ukukhuluma nodokotela onolwazi ngalesi simo. Lokhu kuzokusiza ufunde kabanzi ngokuthi ingane yakho izothinteka kanjani nokuthi ungayilungiselela kanjani.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Holoprosencephaly (HPE) iyisifo esiyinkimbinkimbi sokuzalwa esenzeka lapho ubuchopho bomntwana bungahlukani kahle bube yizingxenye ezimbili esibelethweni.

• Kunezinhlobo ezahlukene kanye namazinga obunzima , ngakho-ke izimpawu ziyahlukahluka kuye ngengane.
• Ngokuvamile kuhileleke izimbangela zofuzo kanye nokukhubazeka kwe-chromosome , kodwa ngezinye izikhathi imbangela ayitholakali.
• Nakuba kungatholakala ngaphambi kokuzalwa nge-ultrasound noma i-MRI, kuvame ukutholakala kuphela ngemva kokuzalwa.
• Akukho ukwelashwa okuqondile , kodwa kunezindlela ezahlukene zokwelapha ukulawula izimpawu nokusekela ingane.
• Umbono uyahlukahluka kuye ngokuthi isimo sibucayi kangakanani. Ezimweni ezincane, izingane zingasinda zize zibe ngabantu abadala.
• Uma ukhulelwe noma uhlela ukukhulelwa, qaphela izinto ezifana nokulawula isifo sikashukela sakho kanye nokuphuza i-folic acid.
• Awuwedwa kulesi simo. Ungathola usizo kodokotela, abeluleki, kanye namaqembu okusekela. Ulwazi olunembile kanye nokusekelwa kubaluleke kakhulu.

I- Holoprosencephaly, i-HPE, izinkinga zobuchopho, ukukhubazeka kokuzalwa, intuthuko yengane esanda kuzalwa, izifo zofuzo, ukukhubazeka kwe-chromosome, impilo yokukhulelwa, impilo yengane