Trisomy 13

Ukuphulukana kweGenes kuthintela kakhulu ukufaneleka komntwana, ngoko le nto ixhalabele kakhulu ngabagqirha nabazali bexesha elizayo. Enye yezilwanyana ezinjalo i-Patau syndrome, ebangelwa yi-trisomy kwi-chromosome 13. Ngalo kwaye siza kuxela kweli nqaku.

Yintoni iTrisomy 13?

I-Patau syndrome iyisifo esingaqhelekanga kune- Down's syndrome kunye ne-Edwards syndrome . Kwenzeka malunga ne-1 ngexesha le-6000 - 14000 ukukhulelwa. Kodwa, emva koko, enye yezinto ezintathu eziqhelekileyo zentsholongwane yomzimba. I-syndrome yenziwa ngeendlela ezininzi:

• ngenxa yendlela yokwakha i-chromosome eyongezelelweyo kwi-pair - i-trisomy elula;
• ngenxa yokuguquka, ngenxa yendalo yoluntu engafanelekanga okanye ukulungiswa kwefa - uRobertson's translocation.

Kwakhona, kuzalisekile (kuzo zonke iiseli), uhlobo lwe-mosaic (kwezinye) kunye nendawo (ubuninzi beengxenye zeekromosomes).

Indlela yokuchonga i-trisomy 13?

Ukufumanisa inani elingaqhelekanga lama-chromosomes kwi-fetus, isifundo esiyinkimbinkimbi kakhulu siyadingeka - i- amniocentesis , ngexesha apho i-amniotic encinci ithathwa ukuze ifundwe. Le nkqubo inokubangela ukuphuphuma komzimba ngokukhawuleza. Ngoko ke, ukugqiba umngcipheko wobukho be-trisomy 13 kumntwana, uvavanyo olubanzi lokuhlola ilinikezelwa. Iqukethe ukwenza i-ultrasound kunye ne-sampling yegazi kwi-vein, ukucacisa ukubunjwa kwezinto eziphilayo.

Ukuchonga izingozi ze-trisomy 13

Emva kokunika igazi kwiiveki ezi-12-13 kunye ne-ultrasound, umama ozayo uza kuba nomphumo, apho izingozi ezisisiseko kunye nomntu ngamnye ziza kuchazwa ngokucacileyo. Ukuba inani le sibini le-trisomy yokuqala 13 (oko kukuthi, isiqhelo) lingaphantsi kweyesibini, ngoko umngcipheko uphantsi (umzekelo: isiseko esisodwa si-1: 5000, kwaye ngamnye ngu-1: 7891). Ukuba ngokuchasene noko, kubonisana nokuthintana ne-geneticist.

Iimpawu ze-trisomy 13 kubantwana

Le ntsholongwane yemfuza ibangela ukuphulwa kancinci ekuphuhlisweni komntwana, oku no kubonakala kwi-ultrasound:

• isakhiwo esingalunganga sobuso: amehlo asondele kakhulu, inkunzi ebunjiweyo, umcengezi emlonyeni ongaphezulu (zombini umlomo kunye nesibhakabhaka), ukukhutshwa kweendlebe neempumlo;
• ubukho beminwe eyongezelelweyo kunye nezinye iimpazamo kwiimilenze;
• iimpembelelo zamalungu angaphakathi: intliziyo, iinjongo, i-pancreas, njl.

Ngokuqhelekileyo, ukukhulelwa okunjalo kuhamba kunye ne-polyhydramnios kunye nobukhulu obuncinane bomntwana. Abantwana abanesi sifo bafa ngaphezulu kwiiveki zokuqala emva kokubeletha.