Trisomy 18

Trisomy 18 ke lefu la lefutso leo ho lona motho a nang le kopi ea boraro ea lisebelisoa tse tsoang ho chromosome 18, sebakeng sa likopi tse 2 tse tloaelehileng. Maemo a mangata ha a fetisoe ke malapa. Ho e-na le hoo, mathata a lebisang boemong bona a etsahala ho peō kapa lehe le thehang lesea.

Trisomy 18 e hlaha ho 1 ho ba 6000 ba tsoaloang ba phela. E tloaelehile makhetlo a 3 ho banana ho feta bashanyana.

Lefu lena le hlaha ha ho na le lisebelisoa tse ling tse tsoang chromosome 18. Litaba tse ling li ama kholo e tloaelehileng.

• Trisomy 18: boteng ba chromosome 18 e eketsehileng (ea boraro) liseleng tsohle.
• Mosaic trisomy 18: boteng ba chromosome 18 e eketsehileng liseleng tse ling.
• Trisomy 18 e arohaneng: boteng ba karolo ea chromosome 18 e eketsehileng liseleng.

Maemong a mangata a Trisomy 18 ha a fetisoe ke malapa (a futsitsoeng). Sebakeng seo, liketsahalo tse lebisang ho trisomy 18 li etsahala ho peo kapa lehe le etsang lesea.

Matšoao a ka kenyelletsa:

• Matsoho a kobehileng
• Ho tšela maoto
• Maoto a nang le botlaaseng (maoto a maoto a tlase)
• Boima ba 'mele bo tlaase
• Litsebe tse tlase
• Ho lieha kelellong
• Manala a menoana a sa sebetseng hantle
• Hlooho e nyane (microcephaly)
• Mohlahare o monyane (micrognathia)
• Lekoko le sa lekanyetsoang
• Sefuba se bopehileng ka tsela e sa tloaelehang (pectus carinatum)

Tlhahlobo nakong ea bokhachane e ka bonts'a popelo e kholo ka mokhoa o sa tloaelehang le mokelikeli o mongata oa amniotic. Ho ka ba le lesea le lenyenyane le sa tloaelehang ha ngoana a hlaha. Tlhahlobo ea 'mele ea lesea e ka bonts'a litšobotsi tse sa tloaelehang tsa sefahleho le mekhoa ea menoana. X-ray e ka bonts'a lesapo le khuts'oane la letsoele.

Boithuto ba Chromosome bo tla bonts'a trisomy 18. Ho se tloaelehe ha chromosome ho ka ba teng seleng e ngoe le e ngoe kapa ho ba teng ka liperesente tse itseng feela tsa lisele (tse bitsoang mosaicism). Boithuto bo kanna ba bonts'a karolo ea chromosome liseleng tse ling. Hangata, karolo ea chromosome 18 e hokelloa ho chromosome e ngoe. Sena se bitsoa translocation.

Lipontšo tse ling li kenyelletsa:

• Sekoti, ho petsoha kapa ho petsoha ka har'a leihlo la leihlo (coloboma)
• Karohano lipakeng tsa lehlakore le letšehali le le letona la mesifa ea mpa (diastasis recti)
• Umbilical hernia kapa hernia ea inguinal

Hangata ho na le matšoao a lefu la pelo la tlhaho, joalo ka:

• Phoso ea Atrial septal (ASD)
• Patent ductus arteriosus (PDA)
• Sekoli sa Ventricular septal (VSD)

Liteko li kanna tsa bontša mathata a liphio, ho kenyelletsa:

• Liphio tsa Horseshoe
• Hydronephrosis
• Liphio tsa Polycystic

Ha ho na liphekolo tse ikhethileng tsa trisomy 18. Ke liphekolo life tse sebelisitsoeng ho latela maemo a motho ka mong.

Lihlopha tsa tšehetso li kenyelletsa:

• Mokhatlo oa Ts'ehetso oa Trisomy 18, 13 le Mathata a Amanang (SOFT): trisomy.org
• Motheo oa Trisomy 18: www.trisomy18.org
• Tšepo ea Trisomy 13 le 18: www.hopefortrisomy13and18.org

Halofo ea masea a nang le boemo bona ha a phele ho feta beke ea pele ea bophelo. Bana ba robong ho ba leshome ba tla shoa ba le selemo se le seng. Bana ba bang ba phela ho fihlela lilemong tsa bocha, empa ba na le mathata a tebileng a bongaka le kholo.

Mathata a ipapisitse le liphoso le matšoao a itseng.

Mathata a ka kenyelletsa:

• Ho phefumoloha bothata kapa ho hloka phefumoloho (apnea)
• Ho se utloe litsebeng
• Mathata a ho fepa
• Ho hloleha ha pelo
• Ho oa
• Mathata a pono

Keletso ea lefutso e ka thusa malapa ho utloisisa boemo, likotsi tsa ho bo futsa, le hore na a ka hlokomela motho ea joang.

Liteko li ka etsoa nakong ea bokhachane ho fumana hore na ngoana o na le lefu lena.

Ho khothaletsoa tlhabollo ea lefutso ho batsoali ba nang le ngoana ea nang le lefu lena mme ba batlang ho ba le bana ba bangata.

Lefu la Edwards

• Ka tumellano

Bacino CA, Lee B. Cytogenetics. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 98.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.