Ziyini izinto ababukeka ngazo?
Kunezivivinyo ezimbalwa zokuhlolwa kwe-serum (ukuhlolwa kwegazi) etholakalayo ngesikhathi sokukhulelwa okungalinganisa amathuba akho okuba nengane ene-Down syndrome.
Nakuba lezi zivivinyo ziyahlukahluka ngokuqondene nokuthi ukhulelwe nini, nokuzwela kwabo (amathuba okukunikeza impendulo efanele), bonke bakala izinto ezenziwe ngedusus noma i-placenta.
Inzuzo enkulu ekuhloleni i-serum uma kuqhathaniswa nokuhlolwa kokuhlola ukuthi akukho ingozi yokukhulelwa kwesisu okuhlobene nabo.
Isivivinyo sokuhlola ukuhlolwa kokuqala: i-hCG ne-PAPP-A
Phakathi ne-trimester yokuqala, izinto ezimbili ezibizwa ngokuthi i-hCG ne-PAPP-A zitholakala emgodleni wegazi lomama. Lezi zinto zingalinganiswa (ngokuvamile phakathi kwamaviki ayishumi kuya kwangu-14 okukhulelwa) futhi zisetshenziselwa ukukhombisa ithuba lomfazi lokuba nomntwana onesifo se- Down syndrome (okuyi-trisomy 21).
I-HCG (I-Gonadotropin Yomuntu Wama-Chorionic)
I-HCG iyi-hormone eyenziwe yi-placenta. Eqinisweni, ekuqaleni kokukhulelwa, yizinto ezitholakalayo e-home and doctor office urine kanye nokuhlolwa kokukhulelwa kwegazi.
Ukukhulelwa lapho ingane ephethe i-Down syndrome iba namazinga aphezulu we-hCG kunezinye ukukhulelwa.
I-PAPP-A (Amaprotheni Ahlanganisiwe-Ahlanganisiwe Plasma A)
Abesifazane abanezinga eliphansi legazi le-PAPP-A emasontweni ayishumi kuya kwangu-14 okubeletha banethuba elandisiwe lokuba umntwana wabo abe ne-Down syndrome.
Amazinga aphansi e-PAPP-A angase akhombise ingozi eyandayo yokunciphisa ukukhula kwe-intrauterine, ukulethwa ngaphambi kwesikhathi, preeclampsia, nokuzalwa.
Imiphumela ye-Trimestre Trimester Screening Testing for Down Syndrome
Imiphumela yalesi sivivinyo segazi se-hCG ne-PAPP-A ibikwa ngokuthi "i-screen negative" noma "i-screen positive" futhi inikeza ukulinganisela kwithuba lakho lokuba nomntwana one-trisomy 21.
Ngamanye amazwi, ukuhlolwa kwegazi lokuhlola akuhlolisi i-Down syndrome.
Imiphumela ye-Screen Negative
Imiphumela "ye-Screen negative" ichaza ukuthi ithuba lakho lokuba nosana nge-Down syndrome liphansi. Noma kunjalo, kubalulekile ukukhumbula ukuthi "umphumela omubi wesikrini" awuqinisekisi ukuthi akukho ukukhubazeka kokuzalwa. Uma unemiphumela "engalungile kwesikrini," ngeke unikezwe ukuhlolwa kokuhlola okulandelwayo nge-CVS noma i-amniocentesis. (Lezi zivivinyo zingakwazi ukuthola i-Down syndrome, ngokungafani nokuhlolwa kwegazi lokuhlola).
Ngakolunye uhlangothi, uzonikezwa elinye ukuhlolwa kwegazi lokuhlolwa, okwenziwe ku-trimester yesibili, elinganisa into ebizwa nge-AFP. Inani lemikhakha ye-AFP yesikhombiso se-neural tube ekhubazeka njenge-anencephaly ne-spina bifida.
Imiphumela Yesikrini Esihle
Imiphumela "emihle yesikrini" isho ukuthi ithuba lokuba umntwana abe ne-Down syndrome liphakeme kunokujwayelekile. Ngakho-ke, ngalesi siphumo, ukuhlolwa okulandelwayo kokuhlola nge-CVS kuzonikezwa.
Kubalulekile ukuthi uqaphele ukuthi umphumela "omuhle wesikrini" awusho ukuthi ingane inomqondo ongavamile we-chromosome. Eqinisweni, iningi labesifazane abanemiphumela emihle "yesikrini" bayoba nezingane ezijwayelekile eziphilile.
Ukunemba Kwesikrini Isimo Esibucayi Nezikrini Imiphumela Engalungile
Ukuze ucacise futhi, ukuvivinya kwe-serum ukuhlolwa akukunikezi ukuxilongwa kodwa kukunika isilinganiso sokuthi unesana ne-Down syndrome.
Ngenkathi ukunemba kokuhlolwa kuhlukahluka emkhatsini webhulebhu, ngokuvamile, ukuhlolwa kokuhlolwa kwe-serum yokuqala ye-hcG ne-PAPP-A kuzobona cishe amaphesenti angu-80 ezinsana ezine-Down syndrome.
Lelizinga lokutholakala landa uma usebenzisa lokhu kuhlolwa ngokubambisana nokuhlolwa kokuhlolwa kwe-ultrasound okuthiwa ukuhlolwa kwe-nuchal translucency, okuye kwenziwa nakwi-trimester yokuqala.
Ngenkathi ukuhlolwa kwe-serum yokuqala kokuqala kuthola cishe amaphesenti angama-80 okukhulelwa nge-Down syndrome, "kuzolahleka" amaphesenti angu-20 (cishe ku-1 kuya ku-5) ukukhulelwa nalezi zimo.
Okuningi mayelana nokubukwa kwe-Nuchal Translucency Ultrasound
Ukuhlolwa kwe-Nuchal translucency yi-ultrasound ekhethekile eyenziwe ku-trimester yokuqala ekala inani lamanzi abila entanyeni yengane (ukuguquka kwe-nuchal).
Lokhu kuyinkinga ekhethekile futhi enzima ukuthola, futhi i-ultrasound ingenziwa kuphela umuntu oye waqeqeshwa ngokuqondile futhi waqinisekiswa ngokuthola lesi silinganiso.
Ngokuvamile, isilinganiso esingaphansi kwe-3 mm kubhekwa njengokujwayelekile noma "isikhala esingenaskrini" futhi isilinganiso se-nuchal translucency esingaphezu kuka-3 mm kubhekwa njengokujwayelekile noma kwesikrini esihle.
Ngokuvamile, ukukala kwe-nuchal translucency kanye namagugu akho wokuhlola ukuhlolwa kwe-serum kuhlangene ndawonye usebenzisa i-algorithm ekhethekile noma ifomula, futhi unikezwa isethi eyodwa yemiphumela yokuhlola.
Uma ukuhlola kwakho kwe-nuchal translucency kulungile, uzothunyelwa kumeluleki wezakhi zofuzo ukuze uxoxe ngemiphumela yakho yokuhlola, lokho okushoyo, nezinketho zakho zokuhlola zokuhlola ezifana ne-CVS ne-amniocentesis.
Omunye Uhlolo Lokuhlola Lokuqala Lwezinyanga Zokuqala: I-Cell-Free DNA Test Blood
Kubalulekile ukuthi uqaphele ukuthi kunesinye isilingo sokuhlola ukuhlolwa kokuqala kwe-Down syndrome esithola i- DNA engenawo cell egazini likaMama. Lokhu kuhlolwa kungenziwa masonto amasonto ayishumi wokubeletha futhi kuthola amaphesenti angama-99 okukhulelwa aphethwe yi-Down syndrome.
Ukungahleleki kokuhlolwa kuphakathi kwamaphesenti amahlanu kuya kwamanye ama-sampuli wegazi, akukho miphumela engatholakala, ngisho nangemva kokuhlolwa okuphindaphindiwe. Ngaphezu kwalokho, ukuhlolwa kuyindleko. Lokho kusho ukuthi abesifazane abasengozini enkulu yokuba nengane ene-Down syndrome bavame ukuhlolwa lokhu (isibonelo, abesifazane abaneminyaka engama-35 noma ngaphezulu ngesikhathi sokubeletha).
Ngaphezu kwalokho, abesifazane abanesivivinyo "esihle" esikhwameni se-hCG ne- PAPP-A bangakhetha ukuhlolwa kwe-DNA engenaselula esikhundleni sokuqhubeka nokuhlolwa kokuhlola. Uma i-DNA engenazo isilingo ihlola kahle, khona-ke i-CVS noma i-amniocentesis ingenziwa ukuze ihlolwe.
Ngakolunye uhlangothi, uma ukuhlolwa kwe-DNA okungenaselula kungalungile, ukuhlola kwegazi lokuqala (i-hCG ne-PAPP-A) kuvame ukubonakala kungamanga.
Izwi elivela
Njengoba ubona, kunezinketho eziningi zokuqala zokuhlola zokuqala ze-Down syndrome ezibandakanya ukuhlolwa kwegazi kwe-hCG ne-PAPP-A, i-ultrasound, noma ukuhlanganiswa kokubili. Ukwengeza, abesifazane besengozini enkulu, kukhona futhi i-DNA yegazi test test.
Ukukhetha ukuthi yikuphi (noma ikhona) indlela yokuhlola, kanye nesikhathi (abanye besifazane bakhetha ukulinda kuze kube yi-trimester yesibili), kukulungile kuwe isinqumo somuntu siqu futhi kudinga ingxoxo eseduze nodokotela wakho futhi ngezinye izikhathi umeluleki wezakhi zofuzo.
> Imithombo:
> I-American College ye-Obstetrics ne-Gynecologists. (2014). Izivivinyo zokuhlola ukukhubazeka kokuzalwa.
> I-Messerlian GM, i-Palomaki GE. I-Down Syndrome: Uhlolojikelele Lokuhlolwa Kwangaphambi kokubeletha. U-Wilkins-Huag L, ed. Kusesikhathini. Waltham, MA: UpToDate Inc.
> National Down Syndrome Society. (2012). Ukuqonda Ukuxilongwa kwe-Down Syndrome.