Imingcipheko eNxulunyaniswe noVavanyo lwe-Non-Invasive Prenatal Screening

Namhlanje, i-US Food and Drug Administration ilumkisa uluntu ngomngcipheko weziphumo zobuxoki, ukusetyenziswa ngokungafanelekanga kunye nokutolikwa okungafanelekanga kweziphumo kunye novavanyo lwe-non-invasive prenatal screening (NIPS), ebizwa ngokuba yi-cell-free DNA tests okanye iimvavanyo zangaphambi kokubeleka. (NIPT). Olu vavanyo lujonga iimpawu zemfuza engaqhelekanga kwimveku engekazalwa ngokuvavanya isampulu yegazi kumntu okhulelweyo. Ngenxa yokusetyenziswa okwandisiweyo kwezi mvavanyo kunye neengxelo zeendaba zamva nje, i-FDA ibonelela ngolu lwazi ukufundisa izigulane kunye nababoneleli bezempilo kunye nokunceda ukunciphisa ukusetyenziswa okungafanelekanga kovavanyo lwe-NIPS.

"Nangona iimvavanyo ze-genetic non-invasive prenatal screening zisetyenziswa ngokubanzi namhlanje, ezi mvavanyo azizange zihlaziywe yi-FDA kwaye zinokuthi zenze amabango malunga nokusebenza kwazo kunye nokusetyenziswa okungasekelwe kwisayensi yesandi," kusho uJeff Shuren, MD, JD. umlawuli we-FDA's Centre for Devices and Radiological Health. “Ngaphandle kokuqonda kakuhle ukuba ezi mvavanyo kufuneka zisetyenziswe njani, abantu banokwenza izigqibo ezingafanelekanga zokhathalelo lwempilo malunga nokukhulelwa kwabo. Sibongoza kakhulu abaguli ukuba baxoxe ngeenzuzo kunye nobungozi bolu vavanyo kunye nomcebisi wemfuza okanye omnye umboneleli wezempilo ngaphambi kokuba benze izigqibo ezisekelwe kwiziphumo zolu vavanyo. "

Uvavanyo lwe-NIPS lunokubonelela ngolwazi malunga nokuba kunokwenzeka ukuba umntwana azalwe enemeko yempilo emandundu. Nangona kunjalo, iimvavanyo ze-NIPS luvavanyo lokuhlola - hayi iimvavanyo zokuxilonga. Banika kuphela ulwazi malunga nomngcipheko wokuba umntwana ongekazalwa unokuba nemfuza engaqhelekanga, kwaye uvavanyo olongezelelweyo lunokufuneka ukuze kuqinisekiswe ukuba umntwana ongekazalwa uyachaphazeleka na okanye hayi.

Ukungahambi kakuhle kwemfuza kunokubangelwa kukungabikho kwechromosome okanye ikopi eyongezelelweyo yechromosome, eyaziwa ngokuba yi-aneuploidy, intwana encinci engekhoyo kwichromosome ebizwa ngokuba yi-microdeletion, okanye iqhekeza elongezelelweyo lechromosome elibizwa ngokuba kukuphindaphinda. Oku kungahambi kakuhle kwemfuza kunokubangela iimeko zempilo ezimandundu. Iimeko ezibangelwa yikhromozomi engekhoyo okanye ikopi eyongezelelweyo yechromosome zixhaphake kakhulu kwaye kunokuba lula ukubhaqa, njenge-Down syndrome, enokubangela imingeni emzimbeni nasengqondweni. Isiqwenga esilahlekileyo okanye esongezelelweyo sechromosome sinokukhokelela kwiimeko ezinqabileyo, ezifana ne-DiGeorge syndrome, enokubangela iziphene zentliziyo, ubunzima bokutya, iingxaki ze-immune kunye nobunzima bokufunda.

Zonke iimvavanyo ze-NIPS kwimarike namhlanje zibonelelwa njengeemvavanyo eziphuhliswe ilebhu (LDTs). Uninzi lwe-LDT, kubandakanywa novavanyo lwe-NIPS, lunikezelwa ngaphandle kokuphononongwa yi-FDA. Ngelixa ii-LDT zizixhobo zonyango phantsi koMthetho woKutya, iziyobisi, kunye neCosmetic Act, i-FDA ibe nomgaqo-nkqubo jikelele wokunyanzeliswa kwengqiqo kuninzi lwe-LDTs ukususela ekubeni uLungiso lweSixhobo sezoNyango lwenziwa ngo-1976. Oko kuthetha ukuba i-FDA ayinyanzelisi ngokubanzi iimfuno zolawulo olusebenzayo. kwii-LDT ezininzi. I-FDA iyaqhubeka nokusebenza neNkongolo kumthetho ukuseka isakhelo solawulo lwanamhlanje kuzo zonke iimvavanyo, kubandakanywa ii-LDT.

Iilabhoratri ezininzi ezibonelela ngolu vavanyo zibhengeza uvavanyo lwazo “njengezithembekileyo” “nezichane kakhulu,” zinika “uxolo lwengqondo” kwizigulana. I-FDA ixhalabile ukuba la mabango asenokungaxhaswa ngobungqina obuvakalayo besayensi. Ngelixa ezi labhoratri zibanga iimvavanyo zazo zichaneke kakhulu, kukho imida ngenxa yokunqaba kweminye yeemeko ezibandakanyiweyo kuvavanyo. Umzekelo, xa uvavanyelwa imeko enqabileyo kakhulu, iziphumo zovavanyo eziqinisekileyo zinokuthi zibe ne-positive yobuxoki kuneyokwenyani, kwaye usana olungekazalwa lusenokungachaphazeleki. Kwezinye iimeko, isiphumo sokuhlola esilungileyo sinokufumanisa ngokuchanekileyo ukungaqhelekanga kwechromosomal, kodwa oko kungaqhelekanga kukho kwi-placenta kwaye kungekhona kwi-fetus, enokuthi ibe nempilo.

Izigulane kunye nababoneleli bezempilo kufuneka baqaphele iingozi kunye nezithintelo zokusebenzisa ezi mvavanyo zokuhlola i-genetic prenatal screening kwaye akufanele zisetyenziswe yodwa ukuxilonga i-chromosomal (genetic) engaqhelekanga. Nangona kunjalo, i-FDA iyazi ngeengxelo zokuba izigulane kunye nababoneleli bezempilo baye benza izigqibo ezibalulekileyo zokhathalelo lwempilo ngokusekelwe kwiziphumo ezivela kolu vavanyo lokuhlola ngaphandle kovavanyo olongezelelweyo lokuqinisekisa. Abantu abakhulelweyo baye bagqiba ukukhulelwa ngokusekelwe kwiziphumo zokuhlolwa kofuzo lwangaphambi kokubeleka kuphela, ngaphandle kokuqonda imida yovavanyo lokuhlola kunye nokuba umntwana ongekazalwa akanako ukungahambi kakuhle kwemfuza echongiweyo ngovavanyo lokuhlola. 

I-FDA incoma ukuba izigulane kunye nababoneleli bezempilo baxoxe ngeenzuzo kunye nobungozi bazo zonke iimvavanyo zofuzo zangaphambi kokuzalwa, kubandakanywa neemvavanyo ze-NIPS, kunye nomcebisi wemfuza okanye omnye umboneleli wezempilo ngaphambi kokuqwalasela uvavanyo olunjalo okanye ukwenza naziphi na izigqibo malunga nokukhulelwa kwabo. Nceda ubone unxibelelwano lokhuseleko oludityaniswe ngezantsi ukuze ufumane uluhlu olupheleleyo lweengcebiso kwizigulane kunye nababoneleli bezempilo.

I-FDA iya kuqhubeka ukujonga ngokusondeleyo imiba yokhuseleko malunga nokusetyenziswa kovavanyo lwe-NIPS kwaye izibophelele ekukhuseleni impilo yoluntu.