Trisomy 18

Trisomy 18 ndimatenda amtundu momwe munthu amakhala ndi kope lachitatu la chromosome 18, m'malo mwa makope awiri wamba. Nkhani zambiri sizimaperekedwa kudzera m'mabanja. M'malo mwake, zovuta zomwe zimabweretsa vutoli zimachitika mu umuna kapena dzira lomwe limapanga mwana wosabadwa.

Trisomy 18 imapezeka mwa 1 kubadwa kwa 6000 amoyo. Ndiwowonekera kwambiri mwa atsikana katatu kuposa anyamata.

Matendawa amapezeka ngati pali zowonjezera kuchokera ku chromosome 18. Zinthu zowonjezera zimakhudza kukula bwino.

• Trisomy 18: kupezeka kwa chromosome 18 yowonjezera (yachitatu) m'maselo onse.
• Mosaic trisomy 18: kupezeka kwa chromosome 18 yowonjezera m'maselo ena.
• Trisomy 18 yapadera: kupezeka kwa gawo la chromosome 18 yowonjezera m'maselo.

Matenda ambiri a Trisomy 18 samaperekedwa kudzera m'mabanja (obadwa nawo). M'malo mwake, zomwe zimayambitsa trisomy 18 zimachitika mwina umuna kapena dzira lomwe limapanga mwana wosabadwa.

Zizindikiro zimaphatikizapo:

• Manja otumbidwa
• Miyendo yowoloka
• Mapazi okhala ndi pansi (mapazi oyenda pansi)
• Kulemera kochepa kubadwa
• Makutu otsika
• Kuchedwa kwamaganizidwe
• Zikhadabo zopangidwa bwino
• Mutu wawung'ono (microcephaly)
• Nsagwada yaying'ono (micrognathia)
• Thumba losasunthika
• Chifuwa chopangidwa mwachilendo (pectus carinatum)

Kuyesedwa panthawi yapakati kumatha kuwonetsa chiberekero chachikulu modabwitsa komanso madzi owonjezera amniotic. Pakhoza kukhala placenta yaying'ono modabwitsa pamene mwana amabadwa. Kuyezetsa thupi kwa khanda kumatha kuwonetsa nkhope zosazolowereka ndi zala zake. X-ray imatha kuwonetsa fupa lalifupi la m'mawere.

Kafukufuku wa Chromosome awonetsa trisomy 18. Kukhazikika kwa chromosome kumatha kupezeka mu selo iliyonse kapena kupezeka m'maselo ochepa okha (otchedwa mosaicism). Kafukufuku amathanso kuwonetsa gawo la chromosome m'maselo ena. Nthawi zambiri, gawo la chromosome 18 limalumikizidwa ndi chromosome ina. Izi zimatchedwa kusintha.

Zizindikiro zina ndizo:

• Khola, kugawanika, kapena kupindika mu iris ya diso (coloboma)
• Kusiyanitsa pakati kumanzere ndi kumanja kwa minofu yam'mimba (diastasis recti)
• Mphungu ya umbilical kapena inguinal hernia

Nthawi zambiri pamakhala zizindikilo za matenda obadwa nawo amtima, monga:

• Matenda osokoneza bongo (ASD)
• Maluso a patent ductus arteriosus (PDA)
• Ventricular septal defect (VSD)

Mayeso amathanso kuwonetsa mavuto a impso, kuphatikizapo:

• Impso za Horseshoe
• Hydronephrosis
• Impso za Polycystic

Palibe mankhwala enieni a trisomy 18. Ndi mankhwala ati omwe amagwiritsidwa ntchito kutengera momwe munthu alili.

Magulu othandizira ndi awa:

• Support Organisation ya Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org
• Maziko a Trisomy 18: www.trisomy18.org
• Chiyembekezo cha Trisomy 13 ndi 18: www.hopefortrisomy13and18.org

Hafu imodzi ya makanda omwe ali ndi vutoli samapulumuka kupitilira sabata loyamba la moyo wawo. Ana asanu ndi anayi mwa khumi amwalira ali ndi chaka chimodzi. Ana ena apulumuka mpaka zaka zaunyamata, koma ali ndi zovuta zazikulu zamankhwala ndi chitukuko.

Zovuta zimadalira zolakwika ndi zizindikiritso zake.

Zovuta zingaphatikizepo:

• Kupuma kovuta kapena kusapuma bwino (kupuma)
• Kugontha
• Mavuto akudya
• Mtima kulephera
• Kugwidwa
• Mavuto masomphenya

Upangiri wa chibadwa ungathandize mabanja kumvetsetsa za vutoli, kuopsa kotengera, komanso momwe angasamalire munthuyo.

Kuyesedwa kumatha kuchitika panthawi yoyembekezera kuti mudziwe ngati mwanayo ali ndi matendawa.

Uphungu wamtunduwu umalimbikitsidwa kwa makolo omwe ali ndi mwana wamatendawa ndipo akufuna kukhala ndi ana ambiri.

Matenda a Edwards

• Mgwirizano

Bacino CA, Lee B. Cytogenetics. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 98.

Madan-Khetarpal S, Arnold G. Matenda amtundu komanso zovuta za dysmorphic. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 1.