Trisomy 18

Trisomy 18 cuta ce ta kwayar halitta wacce mutum ke da kwafin abu na uku daga chromosome 18, maimakon kwafi 2 da aka saba. Yawancin lokuta ba a yanke su ta hanyar dangi. Madadin haka, matsalolin da ke haifar da wannan yanayin na faruwa ne ko dai cikin maniyyi ko kwan da ke samar da ɗan tayi.

Trisomy 18 tana faruwa a cikin 1 cikin 6000 haifuwa masu rai. Ya fi sau 3 a cikin 'yan mata fiye da samari.

Ciwo yana faruwa lokacin da akwai ƙarin abu daga chromosome 18. Thearin kayan yana shafar ci gaban al'ada.

• Trisomy 18: kasancewar ƙarin (na uku) chromosome 18 a cikin duka ƙwayoyin.
• Musa trisomy 18: kasancewar ƙarin 18 chromosome a cikin wasu ƙwayoyin.
• Risananan trisomy 18: kasancewar wani ɓangare na ƙarin 18 chromosome a cikin ƙwayoyin.

Yawancin lokuta na Trisomy 18 ba a ratsa su ta hanyar dangi (gado). Madadin haka, abubuwan da ke haifar da trisomy 18 suna faruwa ne a cikin ko dai cikin maniyyi ko kuma ƙwai da ke samar da ɗan tayi.

Kwayar cutar na iya haɗawa da:

• Hannun hannaye
• Edafafun ƙafa
• Etafafu tare da ƙasa mai tasowa (ƙafafun kafa-ƙasa)
• Weightananan nauyin haihuwa
• -Ananan kunnuwa
• Jinkirta hankali
• Developedusoshin ƙusa mara kyau
• Headananan kai (microcephaly)
• Jawananan muƙamuƙi (micrognathia)
• Testanƙara mara izini
• Kirji mai siffa mara kyau (pectus carinatum)

Jarabawa yayin daukar ciki na iya nuna mahaifa babba da ruwa mai kara ruwa.Zai iya zama ƙaramin mahaifa wanda ba a saba ba lokacin da aka haifi jaririn. Jarabawar jiki ta jariri na iya nuna alamun fuska da tsarin zanan yatsan hannu. X-ray na iya nuna ɗan gajeren ƙirjin.

Karatun chromosome zai nuna trisomy 18. Rashin lafiyar chromosome na iya kasancewa a cikin kowace kwayar halitta ko kuma ta kasance a cikin wasu kaso kawai na kwayoyin (wanda ake kira mosaicism) Nazarin na iya nuna wani ɓangare na chromosome a cikin wasu ƙwayoyin. Ba da daɗewa ba, wani ɓangare na chromosome 18 ya kasance haɗe da wani chromosome. Wannan ana kiran sa translocation.

Sauran alamun sun hada da:

• Rami, tsaga, ko tsaguwa a cikin kwayar ido (coloboma)
• Rabuwa tsakanin hagu da dama na tsokar ciki (diastasis recti)
• Cutar herbal ko hernia inguinal

Sau da yawa akwai alamun cututtukan cututtukan zuciya, kamar:

• Atrial septal aibin (ASD)
• Patent ductus arteriosus (PDA)
• Defectananan raunin ɓarna (VSD)

Gwaji na iya nuna matsalolin koda, gami da:

• Koda
• Hydronephrosis
• Polycystic koda

Babu takamaiman magani don trisomy 18. Wadanne jiyya ake amfani dasu sun dogara da yanayin mutum.

Kungiyoyin tallafi sun hada da:

• Organizationungiyar Tallafi don Trisomy 18, 13 da Cutar Dama (SOFT): trisomy.org
• Gidauniyar Trisomy 18: www.trisomy18.org
• Fata don Trisomy 13 da 18: www.hopefortrisomy13and18.org

Rabin rabin jarirai masu wannan yanayin ba sa rayuwa sama da makon farko na rayuwa. Tara cikin yara goma zasu mutu da shekara 1. Wasu yara sun tsira har zuwa shekarun samartaka, amma tare da manyan matsalolin likita da ci gaba.

Rikitarwa sun dogara da takamaiman lahani da alamomi.

Matsaloli na iya haɗawa da:

• Matsalar numfashi ko rashin numfashi (apnea)
• Kurma
• Matsalar ciyarwa
• Ajiyar zuciya
• Kamawa
• Matsalar hangen nesa

Shawarwarin kwayoyin halitta na iya taimaka wa iyalai su fahimci yanayin, haɗarin gadon sa, da kuma yadda za a kula da mutum.

Ana iya yin gwaji yayin daukar ciki don gano ko yaron yana da wannan ciwo.

Ana ba da shawara kan kwayar halitta don iyayen da ke da ɗa mai wannan cutar kuma waɗanda suke so su sami ƙarin yara.

Ciwon Edwards

• Aiki tare

Bacino CA, Lee B. Cytogenetics. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 98.

Madan-Khetarpal S, Arnold G. Rashin lafiyar kwayoyin halitta da yanayin dysmorphic. A cikin: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli da Davis 'Atlas na Ciwon Lafiyar Jiki na Yara. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 1.