I-Trisomy 18

I-Trisomy 18 kukuphazamiseka kwemfuza apho umntu anekopi yesithathu yezinto ezivela kwi-chromosome 18, endaweni yeekopi ezi-2 eziqhelekileyo. Uninzi lweziganeko azidluliswanga kwiintsapho. Endaweni yoko, iingxaki ezikhokelela kule meko zenzeka nokuba kukwidoda okanye kwiqanda elenza umbungu.

I-Trisomy 18 ivela kwi-1 kwi-6000 yokuzalwa ephilayo. Iphindaphindwe kathathu ngokuxhaphakileyo kumantombazana kunamakhwenkwe.

I-syndrome yenzeka xa kukho izinto ezongezelelweyo ezivela kwi-chromosome 18. Izinto ezongezelelweyo zichaphazela ukukhula okuqhelekileyo.

• I-Trisomy 18: ubukho be-chromosome 18 eyongezelelweyo (yesithathu) kuzo zonke iiseli.
• I-mosaic trisomy 18: ubukho be-chromosome eyongezelelweyo 18 kwezinye zeeseli.
• Inxalenye yetrisomy 18: ubukho benxalenye ye-chromosome eyongezelelweyo 18 kwiiseli.

Uninzi lweziganeko zeTrisomy 18 azidluliswanga kwiintsapho (ezizuzwe njengelifa). Endaweni yoko, izehlo ezikhokelela kwi-trisomy 18 zenzeka nokuba kukwimbewu okanye iqanda elenza umbungu.

Iimpawu zingabandakanya:

• Izandla ezixineneyo
• Imilenze enqamlezileyo
• Iinyawo ezinesiseko esingqukuva (ezinyaweni ezantsi)
• Ubunzima bokuzalwa obuphantsi
• Iindlebe ezisezantsi
• Ukulibaziseka kwengqondo
• Iinzipho eziphucukileyo
• Intloko encinci (microcephaly)
• Umhlathi omncinci (micrognathia)
• Ityhalarha elingachazwanga
• Isifuba esingaqhelekanga (pectus carinatum)

Uvavanyo ngexesha lokukhulelwa lunokubonisa isibeleko esikhulu ngokungaqhelekanga kunye ne-amniotic fluid eyongezelelweyo. Kunokubakho indawo encinci engaqhelekanga xa kuzalwa usana. Uvavanyo lomzimba losana lunokubonisa iimpawu zobuso ezingaqhelekanga kunye neepatheni zeminwe. IX-reyi inokubonisa ithambo elifutshane lebele.

Izifundo zeChromosome ziya kubonisa i-trisomy 18. Ukungaqhelekanga kwe-chromosome kunokubakho kwiseli nganye okanye kubekhona kwipesenti ezithile zeeseli (ezibizwa ngokuba yi-mosaicism). Izifundo zinokubonisa inxenye ye-chromosome kwezinye iiseli. Ngokuqhelekileyo, inxalenye ye-chromosome 18 incamathele kwenye i-chromosome. Oku kubizwa ngokuba kukuhambisa.

Ezinye iimpawu zibandakanya:

• Umngxunya, ukwahlukana, okanye ukucanda kwi-iris yamehlo (coloboma)
• Ukwahlula phakathi kwekhohlo nasekunene kwicala lesisu esiswini (diastasis recti)
• I-hernia okanye i-inguinal hernia

Kukho rhoqo iimpawu zesifo sentliziyo, ezinje:

• Isiphene se-Atrial septal (ASD)
• Ipatent ductus arteriosus (PDA)
• Isiphene se-Ventricular septal (VSD)

Uvavanyo lusenokubonisa iingxaki zezintso, kubandakanya:

• Izintso zeHorseshoe
• IHydronephrosis
• Izintso Polycystic

Akukho zonyango ezithile ze-trisomy 18. Zeziphi iindlela zonyango ezisetyenzisiweyo ezixhomekeke kwimeko yomntu ngamnye.

Amaqela enkxaso aquka:

• Umbutho weNkxaso yeTrisomy 18, 13 kunye nokuphazamiseka okunxulumene noko (SOFT): trisomy.org
• Isiseko seTrisomy 18: www.trisomy18.org
• Ithemba leTrisomy 13 kunye ne-18: www.hopefortrisomy13and18.org

Isiqingatha seentsana ezinale meko asiphili ngaphaya kwiveki yokuqala yobomi. Bathandathu kwabalishumi abantwana bayakufa ngonyaka omnye. Abanye abantwana baye basinda ukuya kwiminyaka yeshumi elivisayo, kodwa ngeengxaki ezinzulu zonyango kunye nokukhula.

Iingxaki zixhomekeke kwiziphene ezithile kunye neempawu.

Iingxaki zinokubandakanya:

• Ukuphefumla ubunzima okanye ukungabikho kokuphefumla (i-apnea)
• Izithulu
• Iingxaki zokondla
• Ukumelwa yintliziyo
• Ukuxhuzula
• Iingxaki zombono

Iingcebiso ngemfuzo zinokunceda iintsapho ziqonde imeko, iingozi zokuyizuza njengelifa, kunye nendlela yokukhathalela umntu.

Uvavanyo lunokwenziwa ngexesha lokukhulelwa ukufumanisa ukuba umntwana unale sifo.

Ukucebisa ngemfuza kuyacetyiswa kubazali abanomntwana onale syndrome kwaye abafuna ukuba nabantwana abaninzi.

Isifo sikaEdward

• Ngokudibeneyo

I-Bacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 98.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.