Ukutholwa kokuqala kwe-trisomy 21: maqondana nenye indlela yokuhlolwa kwamanje

Ukutholwa kokuqala kwe-trisomy 21: maqondana nenye indlela yokuhlolwa kwamanje

Ibhalwe nguMalcolm Ritter

 

 

 

June 17, 2011

E-NEW YORK – Abesifazane abaseminyakeni yokubeletha kufanele bajabule ngezindaba: Izinkampani zaseMelika zisebenzela ukuthuthukisa ukuhlolwa kwegazi kwe-Down's syndrome okunembe kakhulu kunalokhu okutholakala njengamanje ngokushesha ngangokunokwenzeka. Lokhu kuhlolwa kungasindisa abesifazane abaningi ekubeni ne-amniocentesis.

Ukuhlola kwenza kube nokwenzeka ukubuyisela i-DNA yengane egazini likamama, emasontweni ayisishiyagalolunye okukhulelwa, ngaphambi kokuba kubonakale kulabo abaseduze naye. Kuze kube yileso sikhathi, i-amniocentesis, ukuhlola okuhilela ukukhipha uketshezi lwe-amniotic ngokufaka umjovo esibelethweni sikamama, kwakungenziwa kuphela ezinyangeni ezine zokukhulelwa, noma ngisho nangaphezulu.

I-Down's syndrome yisifo sofuzo esidala ukukhula kancane kwengqondo nomzimba. Labo abaphethwe yiyo banobuso obuyisicaba, izintamo ezimfishane, nezandla nezinyawo ezincane. Banengozi enkulu yezinkinga, ikakhulukazi inhliziyo noma ukuzwa. Iminyaka yabo yokuphila icishe ibe yiminyaka engama-21.

Ezimweni eziningi, i-trisomy 21 itholakala ngemva kokuzalwa, kodwa uma lokhu kuhlolwa kwegazi okusha kwenziwa jikelele, kungase kube isikhathi eside ngaphambili. Ngisho noma ukuxilonga ngaphambi kokubeletha kungase kubonise inkinga enzima kubashadikazi okufanele banqume ukuthi bayasikhipha yini isisu noma cha. Ngenxa yokuthi abazali bezingane ezine-Down’s syndrome babhekana nobunzima kokubili emkhakheni wezemfundo nasekunakekeleni le ngane esikhulile, isikhathi esinzima kubazali asebekhulile, kusho udokotela. UMary Norton, uprofesa wokubelethisa kanye ne-gynecology eStanford University.

UDkt. Brian Skotko, uchwepheshe we-Down's syndrome e-Boston Pediatric Hospital, ukholelwa ukuthi “iningi lezingane ezine-Down's syndrome nemikhaya yazo lithi lokhu kuphila kubaluleke kakhulu.” Ungumbhali wendatshana yesayensi esetshenziswa odokotela futhi ehlobene nokumenyezelwa kokuxilongwa kwe-trisomy.

Ekuqaleni, odokotela babecabanga ukuthi lokhu kuhlolwa bakugcinele abesifazane abasengcupheni, ikakhulukazi labo abaneminyaka engaphezu kuka-35. Ekugcineni, kwakungathatha indawo yokuhlola okuvamile okunikezwa noma yimuphi owesifazane okhulelwe. Ngenxa yokuthi inikeza ama-alamu amanga ambalwa kunokuhlolwa kwamanje, bambalwa abesifazane abazonikezwa i-amniocentesis engadingekile, kusho ochwepheshe. Futhi njengoba ingozi yokukhulelwa kwesisu ingu-zero, inani elandayo labesifazane lingase limenywe ukuba lizithobe. Ngenxa yalokhu, isibalo sabesifazane abaziyo ukuthi bakhulelwe ingane ene-Down's syndrome singakhula.

Izinkampani ezimbili zaseCalifornian, iSequenom kanye neVerinata Health, zinethemba lokunikeza lolu hlolo kodokotela baseMelika ngo-Ephreli ozayo. Lezi zinkampani zilindele ukukhululwa kwazo phakathi nekota yokuqala ka-2012, leyo ye-Sequemon esebenza kusukela emavikini angu-10 okukhulelwa, lokho kwe-Verinata, kusukela emasontweni ayisishiyagalombili. Imiphumela izotholakala ezinsukwini eziyisikhombisa kuya kweziyishumi kamuva. Ngakolunye uhlangothi, i-LifeCodexx AG, inkampani yaseJalimane, ithi ifuna ukwenza izivivinyo zayo zitholakale emakethe yaseYurophu kusukela ekupheleni kuka-2011, izivivinyo ezingenziwa phakathi kwe-12.e futhi 14e isonto. Azikho kulezi zinkampani ezishilo ngamanani.

Ngenxa yokuthi ukuhlolwa kunikeza impendulo kusenesikhathi, ngaphambi kokuba kuqashelwe ukukhulelwa noma umama ezwe ingane yakhe inyakaza, kungase kuvumele ukunqanyulwa kokukhulelwa ngokuzithandela ngaphambi kokuphela kwekota yokuqala. “Akekho odinga ukwazi ukuthi ukhulelwe,” kunezela uBrian Skotko. Mhlawumbe awumtshelanga ngisho umyeni wakho ”.

UNancy McCrea Iannone waseNew Jersey wabeletha ingane yentombazane ene-Down syndrome eminyakeni eyisithupha edlule. “Bengingancamela ngempela ukuhlolwa okungahlanyisi kunenkinga yokuthi ngibe ne-amniocentesis noma cha,” usho kanje. Naphezu kokwesaba kwakhe ukuphuphuma kwesisu kanye “nenaliti esiswini sakhe”, wagcina evumile ukuthi ahlolwe. Manje weluleka omama bakusasa bezingane ezine-Down's syndrome futhi ugcizelela isidingo sokwazi ukuxilongwa ngaphambi kokubeletha ukuze akulungiselele.

 

Izindaba ezivela ku- © The Canadian Press, 2011.

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