Kutheni abantwana behlupheka nge-Edwards syndrome?

I-Edwards syndrome ibonisa isibini esesisisigxina (emva kwe- Down syndrome) isifo se-chromosomal, esichazwe ngokuthe ngqo kwiintlobo ezininzi zokuphuhliswa kwe-intrauterine, kunye nokungabikho kwemigaqo ethile yezitho zangaphakathi. Ngokwezibalo ezikhoyo, ubukhulu bokuxilongwa kwesi sigulo buncinane malunga no-1: 5000. Kule ngqaku, siza kuthetha ngokubanzi malunga nokuba kutheni usuleleko lubangelwa yi-Edwards syndrome, kwaye ziziphi iindlela eziphambili zonyango.

Ulwazi jikelele

Ngoko, ngokweengcali, ngenxa yobuthakathaka obuninzi ekuphuhlisweni, abantwana abanokuxilongwa bavame ukufa beselula. Nangona ukuba abantwana bazalwa malunga nexesha, imoto yabo isezantsi kakhulu. Ngaphezu koko, abantwana abane-Edwards syndrome abanakho ukuphuhliswa okupheleleyo ngokwenyama okanye ngengqondo, ngenxa yoko, abafana bafa kwiintsuku zokuqala ezilishumi zobomi, kunye namantombazana - kwisithuba seenyanga ezintandathu (ngokungafanekiyo angaphila unyaka omnye).

Izimpawu zaseprayimari

Esi sifo sibonakala ngeempawu ezinjalo:

• Ubunzima bomzimba;
• Unzima ukugwinya;
• Ukulibala ekuphuculeni ngokomzimba / ngokwengqondo;
• Ukubonakala okhethekileyo (nape ebanzi, icinywe kumacala omhlathi, umhlathi omncinci, amehlo amancinci, iindlebe ezinokukhubazeka kunye nezitho);
• I-Hypertrophy ye-clitoris kumantombazana;
• U-Anomaly wesakhiwo samadoda kumakhwenkwe.

Syndrome yeEdwards. Diagnostics

Inkcazo yesi sifo ngokuyinhloko kuqhuba iimvavanyo ze-chromosome ezikhethekileyo. Ukuqwalasela ukuba i-ultrasound yenziwa ngexesha lokukhulelwa ngokupheleleyo kwexesha elizayo, akusoloko kunokwenzeka ukucacisa ubukho besifo. Ngoko, i-Edwards syndrome kwi-ultrasound ingabonakaliswa ngokungqalileyo, oko kukuthi, ngeempawu ezihambelanayo (umzekelo, ngokungabikho kwinqanawa ekhethekileyo yezinto ezibizwa ngokuthi "umthambo wendalo", ngobukhulu obuncinane bepentecenta ngokwayo, njl.). Ukongezelela, ngokwenene kwiinyanga ezintathu zokuqala zokuzala umntwana, njengoko iingcali zithi, kwaye akunakwenzeka ukufumanisa nayiphi na imiphumo ebalulekileyo ekuphuhlisweni komntwana. Yingakho asikhulumi malunga nokupheliswa kokukodwa kokukhulelwa ngexesha elifanelekileyo le nto. Uninzi lwabafazi, njengomthetho, Yithwala isiqhamo kwaye ubelethe abantwana abane-Edwards syndrome ngexesha elimiselwe kulo.

Unyango

Ngelishwa, okwangoku, oogqirha abanako ukunikela isisombululo esicwangcisekileyo sokunyanga kwesi sifo. Iingxaki ezingama-90% zezigulane ze-Edwards zifa ngonyaka wokuqala wobomi babo (malunga ne-30% ngenyanga yokuqala). Abo balawula ukuhlala besaphila, ngenxa yobomi babo obufutshane bahlala behlushwa iintlobo ezahlukahlukeneyo zezifo ze-somatic, kwaye banokuphelelwa kade kwengqondo.

Isiphelo

Ekugqibeleni, kufuneka kuqatshelwe ukuba namhlanje ososayensi bazama ukufumana unyango olufunekayo kwimeko enjalo engathandekiyo, ukuqhuba izifundo ezininzi kule ndawo. Nangona kunjalo, ngoku kude, ngelishwa, yonke imizamo ayinanto. Yimpilo!