Izifo ezingama-congenital ezihambisana nokuphulwa kwenani lama-chromosomes okulondolozwa ngolwazi lwefa litholakala ku-1% wezinsana ezisanda kuzalwa, kuyilapho cishe amaphesenti angama-20 okwephulwa kwamaphutha okuqala angenxa yesethi engavamile yama-chromosomes emibungu. I-Patau syndrome ingenye ye-pathologies ye-chromosomal engahambisani nokuphila okuvamile.
I-Patau Syndrome - siyini lesi sifo?
I-Patau syndrome ibonakala ngokuba khona kwamaseli enombolo ye-chromosome engeziwe yeshumi nantathu, isb. Esikhundleni se-pair of chromosomes homologous yalolu hlobo, kunezinhlaka ezintathu ezinjalo. U-Anomaly uphinde uchazwe igama elithi "trisomy 13". Ngokuvamile, isethi yama-chromosomes emaseli omzimba womuntu (i-karyotype evamile) imelwe izakhi ezingu-46 (ama-pair) angu-23, okuyizibili ezimbili ezibhekene nezici zobulili. Uma ufunda i-karyotype emaqenjini egazi, izinguquko esakhiweni sama-chromosomes ezingathinti impilo yakhe zingabonakaliswa kunoma yimuphi umuntu, kodwa zikwazi ukuzizwa zizizukulwane.
I-Patau Syndrome - uhlobo lwefa
Uma kutholakala ukuthi "i-Patau syndrome", i-karyotype iboniswa ngoluhlobo lwaloluhlobo: 47 XX (XY) 13+. Kulokhu, amakhophi amathathu we-chromosome yeshumi nantathu angabonakala kuwo wonke amaseli omzimba, kwezinye izimo i-chromosome eyengeziwe yokwenziwa kwatholakala kulamanye amaseli. Lokhu kwenzeka ngenxa yephutha ekuhlukaneni kwamaseli ekuqaleni kokuthuthukiswa kombungu ngemuva kokuxhumeka kweqanda nesidoda, okwenzeka ngaphansi kwethonya lanoma yimiphi imithonya yangaphakathi noma yangaphandle. Ngaphezu kwalokho, i-chromosome eyengeziwe ingabuka kokubili umama nobaba, abangenayo ukuphambuka kwezakhi zofuzo.
Ngaphezu kwalokho, kunezimo lapho inombolo ye-chromosome eyengeziwe engathintwa kwenye i-chromosome eqanda noma e-sperm cell, ebizwa ngokuthi i-translocation. Lena yindlela kuphela ye-Patau syndrome engadluliselwa komunye wabazali. Abantu abathwali bokuguqula izakhi zofuzo futhi abangabonisi izimpawu zesifo bangayithumela ezinganeni ezizalwa zigula.
Ingozi ye-trisomy 13
I-Patau syndrome ebusweni ngokuvamile iyingozi embi, okungekho muntu ogonywa ngumzimba. Muva nje, imibhangqwana eminingi inconywa ukuba yenze i-karyotyping ngaphambi kokuhlelwa kokukhulelwa, ngisho noma ingozi enkulu ye-Patau syndrome noma ezinye izinto ezingavamile ze-chromosomal azitholakali. Le nqubo ihlola isethi yama-chromosomes owesifazane nendoda, yembula ukwehluka okuhlukahlukene. Okungenani, ngenxa yokutadisha i-genome yabazali, kungenzeka ukubikezela ukuthi kunamathuba okuba nesifo sofuzo.
Njengezinye izinto eziningi ezingafani neze-chromosomal, isifo esicatshangelwayo ezimweni eziningi kwenzeka ezinganeni ezikhulelwe ngabesifazane abadala kuneminyaka engama-35-45. Ngakho-ke, ekuqaleni kokukhulelwa kunqunywe uma kunengozi enkulu ye-Patau syndrome, i- amniocentesis ukutadisha amangqamuzana e-fetal ukuze kube khona ukukhubazeka kwezakhi zofuzo. Ukuhlaziywa okunjalo kwenziwa nge-puncture puncture ye-uterine cavity kanye nokuqoqwa kwe-amniotic fluid ngokukhona kwamangqamuzana aphilile we-fetus.
I-Patau syndrome - imvamisa yesenzakalo
I-karyotype, isici se-Patau syndrome, ibhaliwe cishe kanye kanye kuzo zonke izinsana eziyizinkulungwane ezingu-7-14 ezizalwa ziphila. Okwenzeka kubafana namantombazane kuyafana. Ngaphezu kwalokho, ukukhulelwa ngokuphambuka okunjalo emntwaneni kuyisiqhema esengozini enkulu yokukhulelwa kwesisu noma ukubeletha. Ezingamaphesenti angama-75%, abazali bezingane ezinezifo ezingenalo i-chromosomal ezingavamile, iziqephu ezisele zihlotshaniswa nesici sokufa - ngenxa yokudluliselwa kwenombolo ye-chromosome engu-13 evela komunye wabazali.
I-Patau Syndrome - izimbangela ze
Izinhlobo ezingezona ezifa zalesi sifo azinazo izimbangela ezicacile zokuqala, ukucwaninga izici ezicasulayo kudinga ucwaningo oluyinkimbinkimbi. Kuze kube manje, akukaze kusungulwe ncamashi ukuthi yikuphi ukuhluleka okwenzekayo - uma wenza amangqamuzana ocansi noma uma wenza i-zygote. Kukholelwa ukuthi i-chromosome eyengeziwe yenza kube nzima ukufunda i-genome ngamaseli, okuba yisithiyo ekubunjweni okujwayelekile kwezicubu, ukugcwaliseka okuphumelelayo nokufika ngesikhathi sokukhula nokuthuthukiswa kwazo.
Ososayensi basikisela ukuthi imbangela ye-Patau syndrome ingahlanganiswa nezici ezinjalo:
- ukuvezwa kwemisebe ye-ionizing;
- imiphumela enobuthi;
- izifo ezithathelwanayo;
- isimo esingavumelekile esingokwemvelo;
- imikhuba emibi kamama.
I-Patau syndrome - izimpawu
Kwezinye izimo, uma kungenjalo kuphela inani lamaseli emzimbeni othintwa, akukhulumi kakhulu futhi akusikho ngokushesha ukuhlakulela okungaqondakali, kepha ngokuvamile ukwehluka kuyabalulekile. Ngaphezu kwalokho, ngaphezu kwamaphutha angaphandle angabonakala esithombeni, i-Patau syndrome ibonakala ngezingqinamba eziningana zezitho zangaphakathi. Ukuphambuka okuningi akunakwenzeka.
Ake sibhale ukuthi yini izimpawu ze-Patau's syndrome:
1. Ukuhlanganiswa nesimiso sezinzwa:
- umthamo wekhanda elinciphile;
- ukwephulwa kokwakhiwa kwama-hemispheres we-cerebral;
- ukuphambuka kwentuthuko yengqondo;
- ukuthuthukiswa kwezimoto ezingaphumeleli;
- isici se-cerebrospinal;
- ukuntuleka kombono;
- i-cataract;
- i-optic nerve hypoplasia;
- i-microphthalmia;
- inqola ye-retina.
2. Ama-Musculoskeletal, izikhumba ezingavamile:
- unciphise intamo;
- isimo esihlanekeziwe sama-auricles;
- ukuguqulwa kwezinyawo;
- hernia umbilical;
- ukungabikho kwesikhumba nezinwele;
- ukutholakala kweminwe engafanele kwizingalo noma ngesandla nasemilenzeni noma emilenzeni;
- isimo se-flexor of amabhulashini;
- ibhuloho lephunga eliphumile;
- umlomo wezimvu ;
- umlomo womlomo .
Izimpawu ze-urogenital:
- ama-cysts ungqimba lwama-kidney;
- i-bifurcation ye-ureters;
- ukuhlukunyezwa kwezidakamizwa.
4. Ezinye izinkinga:
- izinkinga zezinkanyezi eziphakathi kwenhliziyo;
- ukuguqulwa kwezitsha ezinkulu;
- ukuphazamiseka kwe-hormone secretion;
- ukufuduka kwama-pancreas;
- ukuphenduka okungapheli komathumbu;
- ipeni elengeziwe, njll.
I-Patau's syndrome - izindlela zokuxilonga
Ngemuva kokuzalwa kwengane, ukutholakala kwe-Patau's syndrome akuyona inkinga ngokuhlolwa okubukwayo. Ukuqinisekisa ukuxilongwa, kwenziwa ukuhlolwa kwegazi ukuthola i-genotype ye-Patau syndrome, i-ultrasound. Ukuhlaziywa kwezakhi zofuzo kuqhutshwa nasezinkingeni zokufa kwezinsana, okwenza kube lula ukuthola uhlobo lwesifo, ukuqonda ukuthi ngabe kuyifa (kubalulekile ekuhleleni izingane phambili).
Ukuhlolwa kwe-Syndrome Patau
Kubaluleke nakakhulu ukucacisa ngendlela esifike ngesikhathi ukuphambuka esiteji sokuqala sokukhulelwa, okungenziwa cishe ngasekupheleni kwe-trimester yokuqala. Ngaphambi kokuzalwa kwe-Trisomy 13 i-chromosome ingatholakala ngokuhlola amangqamuzana avela ku-amniotic fluid (amniotic fluid) etholakala ngesikhathi samniocentesis noma kusuka kumaseli atholakala nge-chorion biopsy.
Ukuhlaziywa ngaphambi kokubeletha kungenziwa uma abazali besengcupheni yokuthuthukisa i-pathology yefa kanye nokuhlola ulwazi oluthile lwezingane ezikhulelwe. Ngezikhathi ezehlukene, lezo zindlela zokwabiwa kwesisetshenziswa zisetshenziselwa ukuhlaziya indlela yokwenyuka kwe-polymerase ye-fluorrescent yokulinganisa indlela:
- kusuka emavikini ayisishiyagalombili kuya ku-12 - ukuthatha isamba esincane se-chorion (umbilini wamabrionic);
- kusuka emavikini angu-14-18 - ukukhethwa kwama-amniotic fluid aqukethe amaseli e-fetal ngokusebenzisa udonga lwangaphakathi lwe-peritoneum;
- emva kwamasonto angu-20 - ukukhishwa kwesitsha segazi sezintambo.
I-Syndrome Patau nge-ultrasound
Kusukela ngeviki leshumi nambili lokukhulelwa, ukukhubazeka okuthuthukayo ebusweni kungatholakala nge-diagnosis ye-ultrasound. I-Patau's syndrome ibonakala ngokuba khona kwezibonakaliso ezilandelayo:
- ama-polyhydramnios kwabesifazane abakhulelwe ;
- inhloko encane engasenqenqemeni ebusweni;
- iminwe eyengeziwe emilenzeni;
- ukuqina kwendawo yekholomu;
- imvamisa yezinhliziyo, njll
Ukwelashwa kwe-Patau syndrome
Ngokudabukisayo, lokhu kungase kuzwakale, kepha izingane ezinePatau syndrome ziyagula, ngoba azigula. akunakwenzeka ukulungisa okungavamile kwe-chromosomal. I-Syndrome Patau isho izinga elijulile le-idiocy, ukukhubazeka okuphelele. Abazali abaye banquma ukubeletha umntwana onokukhubazeka okunjalo kufanele bazimisele ukuthi uzodinga ukunakekelwa nokuphathwa njalo. Ukungenelela kokuhlinzwa kanye nokwelapha izidakamizwa kungenziwa ukuze kulungiswe ukusebenza kwezinhlelo ezibalulekile nezitho, ukuhlinzwa kweplastiki, ukuvimbela izifo nokuvuvukala.
I-Patau's syndrome - ukubikezela
Izingane ezixilongwa nge-Patau's syndrome, ukulindela impilo ezimweni eziningi akudluli unyaka owodwa. Ngokuvamile izingane ezinjalo zizobhujiswa emavikini okuqala noma ezinyangeni emva kokuzalwa. Ngaphansi kwezingu-15% zezingane zihlala iminyaka emihlanu, futhi emazweni athuthukile anezinga eliphakeme lehlelo lokunakekelwa kwezempilo, cishe amaphesenti angu-2 weziguli asinda eminyakeni eyishumi. Kulesi simo, ngisho nalawo magciwane angenalo ukulimala okukhulu komzimba, akakwazi ukuzivumelanisa futhi azizinakekele.