Trisomy 18

Trisomy 18 chirwere chemagene umo munhu ane chechitatu kopi yezvinhu kubva kuchromosome 18, pachinzvimbo cheyakajairwa maviri makopi. Mhosva zhinji hadzina kupfuudzwa kuburikidza nemhuri. Pane kudaro, matambudziko anotungamira kune ino mamiriro anoitika mune chero urume kana zai rinoumba fetus.

Trisomy 18 inowanikwa mu1 mu6000 vanozvarwa vari vapenyu. Inowanikwa ka3 muvasikana kupfuura vakomana.

Iyo syndrome inoitika kana paine zvimwe zvinhu zvinobva kune chromosome 18. Iyo yekuwedzera zvinhu zvinokanganisa zvakajairika kukura.

• Trisomy 18: kuvapo kwechimwe (chetatu) chromosome 18 mumaseru ese.
• Mosaic trisomy 18: kuvapo kwechimwe chromosome 18 mune mamwe masero.
• Yakasarudzika trisomy 18: kuvapo kwechikamu cheyezve chromosome 18 mumasero.

Mazhinji kesi dzeTrisomy 18 hadzina kupfuudzwa kuburikidza nemhuri (nhaka). Pane kudaro, zviitiko zvinotungamira trisomy 18 zvinoitika mune chero urume kana zai rinoumba fetus.

Zviratidzo zvinogona kusanganisira:

• Maoko akakwenenzverwa
• Makumbo akayambuka
• Tsoka dzine pasi rakatenderedzwa (rocker-pasi tsoka)
• Kurema kwekuzvarwa uremu
• Nzeve-dzakadzika nzeve
• Kunonoka kwepfungwa
• Nzara dzakasimudzwa zvisizvo
• Musoro mudiki (microcephaly)
• Shaya diki (micrognathia)
• Machende asina kudzikiswa
• Chisina kujairika chifuva (pectus carinatum)

Kuongorora panguva yekuzvitakura kunogona kuratidza chibereko chisina kujairika chikuru uye yakawedzera amniotic fluid. Panogona kunge paine placenta diki isinganzwisisike panoberekwa mwana. Kuongorora kwemuviri kwemucheche kunogona kuratidza kusanzwisisika kwechiso uye zvigunwe zveminwe. X-ray inogona kuratidza pfupi zamu pfupa.

Zvidzidzo zveChromosome zvinoratidza trisomy 18. Iko kusagadzikana kwechromosome kunogona kuve kuri mune yese sero kana kuve mune imwe chete muzana yemasero (anonzi mosaicism). Zvidzidzo zvinogona zvakare kuratidza chikamu chechromosome mune mamwe masero. Kazhinji, chikamu chekromosome 18 chinosungirirwa kune imwe chromosome. Izvi zvinonzi translocation.

Zvimwe zviratidzo zvinosanganisira:

• Hole, kupatsanurwa, kana kupaza muiyo iris yeziso (coloboma)
• Kuparadzaniswa pakati pekuruboshwe uye kurudyi kwedumbu remuviri (diastasis recti)
• Umbilical hernia kana inguinal hernia

Iko kunowanzo kuve nezviratidzo zvekuberekwa chirwere chemoyo, senge:

• Atrial septal chirema (ASD)
• Patent ductus arteriosus (PDA)
• Ventricular septal chirema (VSD)

Bvunzo dzinogona zvakare kuratidza matambudziko eitsvo, kusanganisira:

• Horseshoe itsvo
• Hydronephrosis
• Polycystic itsvo

Iko hakuna chaiwo marapirwo etrisomy 18. Ndeapi marapirwo anoshandiswa anoenderana nemamiriro emunhu mumwe nemumwe.

Mapoka ekutsigira anosanganisira:

• Tsigiro Sangano reTrisomy 18, 13 uye Matambudziko Akabatana (SOFT): trisomy.org
• Trisomy 18 Nheyo: www.trisomy18.org
• Tariro yeTrisomy 13 uye 18: www.hopefortrisomy13and18.org

Hafu yevacheche vane chirwere ichi havararame kupfuura vhiki yekutanga yehupenyu. Vapfumbamwe pavana gumi vachafa negore rimwe chete. Vamwe vana vakapona kusvika pazera rekuyaruka, asi vaine matambudziko akakomba ekurapa nekusimudzira.

Matambudziko anoenderana nezvinokanganisa uye zviratidzo.

Zvinetso zvinogona kusanganisira:

• Kufema kunetseka kana kushomeka kwekufema (apnea)
• Matsi
• Matambudziko ekudyisa
• Kutadza kwemoyo
• Kufenda
• Matambudziko ekuona

Kurairidzwa kwemajini kunogona kubatsira mhuri kunzwisisa mamiriro, njodzi dzekugara nhaka, uye machengeterwo emunhu.

Kuedzwa kunogona kuitwa panguva yekuzvitakura kuti uone kana mwana aine chirwere ichi.

Genetic counselling inokurudzirwa kuvabereki vane mwana ane chirwere ichi uye vanoda kuve nevamwe vana.

Edwards syndrome

• Syndactyly

Bacino CA, Lee B. Cytogenetics. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 98.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.