Kalmar anomaly tayi tana ɗauke da abubuwa daban -daban. Yana iya zama:

• rashin daidaituwa na chromosomal: rashin daidaituwa na lamba (tare da babban adadin chromosome: trisomy 13, 18, 21), na tsari (juyawa, sharewa), ɓarna na chromosomes na jima'i (Ciwon Turner, ciwon Klinefelter). Abun rashin daidaituwa na chromosomal yana shafar kashi 10 zuwa 40% na tsinkaye, amma saboda zaɓin yanayi (ɓarna ba zato ba tsammani da mace -mace) in utero) suna shafar 1 ne cikin jarirai 500, kusan rabinsu suna da ciwon Down (21);
• na cututtukan kwayoyin halitta da ɗaya daga cikin iyaye ke watsawa. 1 cikin 1 jarirai suna da shi. Cututtuka guda biyar da aka fi sani da su sune cystic fibrosis, hemochromatosis, phenylketonuria, rashi antitrypsin alpha-2 da thalassemia (XNUMX);
• lalacewar ilimin halittar jiki: bugun zuciya, bugun zuciya, genitourological, narkewa, a cikin gabobin jiki, kashin baya, fuska (tsattsarkan lebe da lema). Abubuwan da ke haifar da cututtuka (masu kamuwa da cuta, na zahiri ko masu guba) suna bayanin 5 zuwa 10% na lamuran, kwayoyin halitta ko abubuwan da ke haifar da cutar daga 20 zuwa 30%. 50% na shari'o'in har yanzu ba a bayyana su ba (3);
• rashin daidaituwa saboda kamuwa da cuta da mahaifiyar ta kamu da ita a lokacin daukar ciki (toxoplasmosis, cytomegalovirus, rubella).

Duk waɗannan cututtukan suna wakiltar 4% na haihuwar rayuwa, ko haihuwar 500 a Turai (000).

An ayyana cutar ta mahaifa a matsayin saitin “ayyukan likita da aka yi niyyar ganowa a cikin utero a cikin amfrayo ko tayin, so na wani nauyi”. ”(Labari na L. 2131-1 na lambar lafiyar jama’a).

Ultrasounds uku na nunawa suna taka muhimmiyar rawa a layin farko a cikin wannan ganewar ciki:

• na farko, wanda aka yi tsakanin makonni 11 zuwa 13, yana ba da damar gano wasu manyan nakasa kuma yana shiga cikin tantance abubuwan da ba a sani ba na chromosomal ta hanyar auna tsinkayen nuchal;
• na biyu abin da ake kira duban dan tayi (22 SA) yana ba da damar yin nazarin nazarin halittu mai zurfi tare da manufar nuna wasu abubuwan rashin lafiyar jiki;
• duban dan tayi na uku (tsakanin 32 zuwa 34 WA) yana sa ya yiwu a tantance wasu abubuwan rashin lafiyar halittar da ke bayyana a makare.

Duk da haka, duban dan tayi ba zai iya gano munanan abubuwan da tayi ba. Wannan jarrabawar da aka yi ta duban dan tayi ba ta ba da ainihin hoton tayin da gabobinsa ba, amma hotuna ne kawai da aka yi da inuwa.

Ana ba da tsarin trisomy 21 na tsari ga uwaye masu zuwa, amma ba tilas bane. Ya dogara ne akan ma'aunin nuchal translucency (kaurin wuyan) yayin duban dan tayi na 12 AS da ƙuduri a cikin jinin mahaifa na alamomin magani (furotin PAPP-A da hormone b-HCG). Haɗe da shekarun mahaifiyar, waɗannan ƙimar suna ba da damar yin lissafin haɗarin cutar Down's syndrome. Bayan 21/1, ana ganin haɗarin yana da girma.

Za a iya ba da ƙarin zurfin bincike na ciki ga ma'aurata a yanayi daban-daban:

• gwaje -gwaje na nunawa (ultrasounds, screening for trisomy 21) suna ba da shawarar rashin lafiya;
• ma'auratan sun karɓi shawarwarin kwayoyin halitta (saboda tarihin iyali ko likita) kuma an gano haɗarin rashin lafiyar tayi:
• uwar da za ta haifa ta kamu da ciwon da ke da haɗari ga tayin.

Binciken asali na haihuwa ya dogara ne akan nazarin ƙwayoyin tayi don yin bincike na chromosome, gwajin kwayoyin halitta, ko gwajin halittu don gano kamuwa da tayi. Dangane da lokacin ciki, za a yi amfani da gwaje -gwaje daban -daban:

• Ana iya yin biopsy na trophoblast daga 10 WA. Ya ƙunshi ɗaukar samfurin ƙaramin guntu na trophoblast (mahaifa mai zuwa). Ana iya yin shi idan an gano mummunan lahani akan duban dan tayi na 12 WA ko kuma idan akwai tarihin abubuwan da ba su dace ba yayin daukar ciki na baya.
• Ana iya yin amniocentesis daga makonni 15 zuwa gaba. Ya haɗa da shan ruwan amniotic kuma yana ba da damar gano cututtukan chromosomal ko rashin lafiyar kwayoyin halitta, da kuma gano alamun kamuwa da cuta.
• Hatsarin jinin mahaifa ya ƙunshi ɗaukar jinin tayi daga jijiyar cibiya. Ana iya yin shi daga makwanni 19 don kafa karyotype, don binciken kwayoyin halitta, kimantawa na kamuwa da cuta ko neman karancin jini na tayi. Â ¨

Ana yin abin da ake kira “diagnostic” ko “line-line” duban dan tayi lokacin da aka gano wani haɗari ta hanyar duban dan tayi, ta tarihi (haɗarin kwayoyin halitta, ciwon sukari, fallasa guba, da sauransu) ko nazarin halittu. Ana nazarin ƙarin abubuwan anatomical bisa ga takamaiman yarjejeniya dangane da nau'in anomaly (5). Ana yin wannan duban dan tayi ne ta wani kwararren likita da ke aiki a cikin cibiyar sadarwa tare da cibiyar bincike na mahaifa da dama. Ana iya yin MRI azaman layi na biyu, alal misali don bincika tsarin juyayi na tsakiya ko don tantance girman ƙari ko ɓarna.

Da zaran an gano cutar da tayi, ana tura ma’auratan zuwa cibiyar ganewar juna biyu (CPDPN). Hukumar Biomedicine ta amince da ita, waɗannan cibiyoyin sun haɗu da ƙwararru daban -daban a cikin magungunan haihuwa: sonographer, biologist, geneticist, radiologist, newon surgery, psychologist, etc. Yana iya zama:

• tiyata a cikin utero ko maganin miyagun ƙwayoyi na tayi a cikin utero, ta hanyar uwa;
• sa hannun tiyata daga haihuwa: mahaifiyar da za ta haihu za ta haihu a asibitin haihuwa mai iya yin wannan aikin. Muna magana akan "canja wuri a cikin utero";
• lokacin da aka gano ɓoyayyen tayi wanda ƙungiyar CPDPN ke ɗauka a matsayin yana da “babban yuwuwar ɗan da ba a haifa ba zai sami yanayin babban nauyi wanda ake ganin ba zai iya warkewa ba a lokacin ganewar asali” (art. L. 2231-1 na Dokar Kiwon Lafiyar Jama'a) , an kawo ƙarshen kula da lafiya na ciki (IMG) ga iyaye, waɗanda suka kasance 'yanci don karɓa ko a'a.

Bugu da ƙari, ana ba da kulawa ta hankali ga ma'aurata don shawo kan wannan mawuyacin hali na sanarwar rashin lafiyar tayi da, idan ya cancanta, IMG.