Gwajin da ba a yi ba kafin haihuwa shine gwajin kwayoyin halitta wanda zai iya gano trisomy 21 a cikin tayi. Menene wannan jarrabawar ta ƙunsa? A waɗanne lokuta ake nuna mata masu ciki? Shin abin dogara ne? Duk abin da kuke buƙatar sani game da DPNI.

DPNI, wanda kuma ake kira gwajin DNA na LC T21, gwajin gwaji ne da aka miƙa wa mata masu juna biyu a dabarun tantance trisomy 21. Gwajin jini ne da aka ɗauke shi daga makon 11 na amenorrhea (AS) kuma wanda ke ba da damar ƙididdigewa da nazarin tayin tayi. DNA yana yawo a cikin jinin mahaifa. Wannan jarrabawar ta yiwu ne ta hanyar sabon fasahar samar da fasahar DNA ta NGS (Tsarin Tsara na Gaba). Idan sakamakon ya nuna cewa DNA daga chromosome 21 yana nan a cikin adadi mai yawa, yana nufin cewa tayin yana da babban yuwuwar kasancewa mai ɗaukar cutar Down's syndrome. 

Kudin gwajin yana 390 €. An rufe shi 100% ta Inshorar Lafiya. 

A Faransa, gwajin cutar Down's syndrome ya dogara ne akan abubuwa da yawa.

Auna girman nuchal translucency na tayi 

Mataki na farko a tantancewa shine auna nuchal translucency na tayi a lokacin duban dan tayi na farko (wanda aka yi tsakanin 11th zuwa 13th WA). Sarari ne wanda yake matakin matakin wuyan tayin. Idan wannan sarari ya yi yawa, yana iya zama alamar rashin lafiyar chromosomal. 

Gwajin gwajin jini

A ƙarshen duban dan tayi na farko, likita kuma ya ba da shawarar cewa mai haƙuri ya yi sigogin alamun jini ta hanyar gwajin jini. Alamar serum abubuwa ne da mahaifa ko tayi ya ɓoye kuma ana samun su a cikin jinin mahaifa. Matsayi mafi girma ko thanasa da matsakaicin alamomin magani na iya tayar da zato na ciwon Down.

Yawan shekarun mai zuwa

Hakanan ana la'akari da shekarun mahaifiyar da za ta kasance yayin yin gwajin trisomy 21 (haɗarin yana ƙaruwa da shekaru). 

Bayan nazarin waɗannan abubuwan guda uku, ƙwararren masanin kiwon lafiya wanda ke bin mace mai ciki ya kiyasta haɗarin cewa tayin yana ɗauke da ciwon Down ta hanyar isar da adadi zuwa gare ta. 

A wane hali ake ba da DPNI?

Idan yuwuwar haɗarin yana tsakanin 1/1000 zuwa 1/51, ana ba mai haƙuri DPNI. An kuma nuna:

• a cikin marasa lafiya sama da shekaru 38 waɗanda ba za su iya amfana daga gwajin alamun mahaifa ba.
• a cikin marasa lafiya da tarihin ciwon Down daga ciki na baya.
• a cikin ma'aurata inda ɗayan iyaye biyu na gaba suna da ƙaurawar Robertsonian (rashin lafiyar karyotype wanda zai iya haifar da trisomy 21 a cikin yara). 

Kafin gudanar da jarrabawar, mace mai ciki dole ne ta aiko da rahoto game da duban dan tayi na farkon watanni uku wanda ke tabbatar da daidaiton yanayin nuchal translucency da takaddar shawarwarin likita da yarda da izini (wannan tantancewar ba ta zama tilas ba kamar sashi na alamomin jini). 

Ana mayar da sakamakon gwajin cikin kwanaki 8 zuwa 10 ga mai rubutawa (ungozoma, likitan mata, babban likita). Shi kaɗai ne aka ba da izinin watsa sakamakon ga mai haƙuri. 

A yayin abin da ake kira "tabbatacce" sakamako

Sakamakon da ake kira “tabbatacce” yana nufin kasancewar ciwon Down syndrome yana iya yiwuwa. Koyaya, gwajin bincike yakamata ya tabbatar da wannan sakamakon. Ya ƙunshi nazarin chromosomes na tayin bayan amniocentesis (samfurin ruwan amniotic) ko choriocentesis (cire samfurin daga mahaifa). Ana ɗaukar jarrabawar bincike azaman mafaka ta ƙarshe saboda ya fi ɓarna fiye da DPNI da ƙimar alamomin magani. 

A cikin abin da ake kira sakamakon “korau”

Sakamakon da ake kira "korau" yana nufin babu trisomy 21 da aka gano. Ana ci gaba da kula da juna biyu kamar yadda aka saba. 

A mafi yawan lokuta, gwajin na iya ba da sakamako. Dangane da Hukumar Biomedicine, adadin jarabawar da ba a iya aiwatarwa a cikin 2017 ya wakilci kashi 2% kawai na duk NIDDs.

A cewar Association des Cytogenéticiens de Langue Française (ACLF), “sakamakon dangane da hankali (99,64%), takamaiman (99,96%) da ƙimar tsinkaya mai kyau (99,44%) a cikin yawan mutanen da ke cikin haɗari ya karu aneuploidy tayi yana da kyau ga Down's syndrome ”. Don haka wannan gwajin zai zama abin dogaro kuma zai sa ya yiwu a guji karyotypes tayi na 21 (ta hanyar amniocentesis) kowace shekara a Faransa.