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Diagnostyka I Terapia Wad Płodu – Aktualny Stan Wiedzy I Praktyki

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Diagnostyka I Terapia Wad Płodu – Aktualny Stan Wiedzy I Praktyki ('<725,$/ Diagnostyka i terapia wad płodu – aktualny stan wiedzy i praktyki 'LDJQRVWLFVDQGWKHUDS\RIIHWDOPDOIRUPDWLRQV± ±FXUUHQWNQRZOHGJHDQGSUDFWLFH Janusz Bohosiewicz STRESZCZENIE 'LDJQRVW\NDLWHUDSLDZDGSáRGXWRQRZDEXU]OLZLHUR]ZLMDMąFDVLĊJDáąĨPHG\ Klinika Chirurgii Dziecięcej F\Q\3UHQDWDOQHUR]SR]QDQLHZDG\SR]ZDODXVWDOLüQDMNRU]\VWQLHMV]\F]DVPLHM Wydziału Lekarskiego w Katowicach Śląskiego Uniwersytetu Medycznego VFH L GURJĊ SRURGX 0RĪQD SRLQIRUPRZDü URG]LFyZ L X]JRGQLü ] QLPL SODQ w Katowicach L]DNUHVOHF]HQLDSRXURG]HQLX'\VSRQXMHP\REHFQLHV]HURNąJDPąPRĪOLZRĞFL SPSK nr 6 GLDJQRVW\F]Q\FKRGEDGDĔELRFKHPLF]Q\FKL86*SRF]ąZV]\SU]H]HFKRVHUFD Górnośląskie Centrum Zdrowia Dziecka GRSSOHU86* UH]RQDQV PDJQHW\F]Q\ QD EDGDQLDFK LQZD]\MQ\FK F]\OL DPQLR im. 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Janusz Bohosiewicz 6à2:$./8&=2:( Klinika Chirurgii Dziecięcej GLDJQRVW\NDZDGSáRGXWHUDSLDZDGSáRGX Wydziału Lekarskiego w Katowicach Śląskiego Uniwersytetu Medycznego w Katowicach SPSK nr 6 ABSTRACT Górnośląskie Centrum Zdrowia Dziecka im. Jana Pawła II ul. Medyków 16 )HWDOGLDJQRVWLFVDQGWKHUDS\LVDQHZLQWHQVLYHO\GHYHORSLQJEUDQFKRIPHGL 40-752 Katowice tel. +48 32 207 17 50 FLQH7KDQNVWRSUHQDWDOGLDJQRVLVZHDUHDEOHWRGHWHUPLQHWKHPRVWDGYDQWD fax. +48 32 207 18 02 JHRXV WLPH ORFDWLRQ DQG PHWKRG RI GHOLYHU\ :H FDQ LQIRUP WKH SDUHQWV DQG e-mail: [email protected] GLVFXVVDSRVWQDWDOWUHDWPHQWSODQ:HFXUUHQWO\KDYHDZLGHUDQJHRIGLDJQRVWLF RSSRUWXQLWLHVELRFKHPLFDODQDO\]HVXOWUDVRQRJUDSK\HFKRJUDSK\GRSSOHUXOWUD Ann. Acad. Med. Siles. 2013, 67, 5, 283–293 Copyright © Śląski Uniwersytet Medyczny VRQRJUDSK\PDJQHWLFUHVRQDQFHLPDJLQJDVZHOODVPRUHLQYDVLYHVWXGLHVVXFK w Katowicach DVDPQLRFHQWHVLVDQGFRUGRFHQWHVLV e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áyGUR]ZLMDMąF\VLĊZáRQLHPDWNLSR]R : SU]\SDGNX SU]HSXNOLQ\ SĊSRZLQRZHM omphaloce- VWDZDá LVWRWą QLH]QDQą 2OEU]\PL SRVWĊS PHG\F\Q\ le NLHG\ ZLDGRPR ĪH MHOLWR QLH PD NRQWDNWX ] Sá\ Z;; ZLHNX L ZSURZDG]HQLH QRZRF]HVQ\FK PHWRG QHP RZRGQLRZ\PG]LHFNRF]HNDF]ĊVWR ZLHORHWDSR REUD]RZDQLD SU]HGH ZV]\VWNLP XOWUDVRQRJUDILL SR ZHOHF]HQLHPRĪQDVLĊWDNĪHVSRG]LHZDüLQQ\FKZDG ]ZROLá\ SR]QDü IL]MRORJLĊ UR]ZRMX SáRGX D ] F]DVHP JáyZQLHVHUFD.RU]\VWQHMHVWZyZF]DVE\FLąĪDWUZD WDNĪH UR]SR]QDZDü MHJR FKRURE\ L ZDG\ 5R]SRF]ąá áDGáXĪHMLSáyGXURG]LáVLĊEDUG]LHMGRMU]Dá\2EHFQRĞü VLĊEXU]OLZ\UR]ZyMQRZHMG]LHG]LQ\PHG\F\Q\MDNą FKLUXUJD G]LHFLĊFHJR SU]\ SRURG]LH SR]ZDOD Z SU]\ MHVWGLDJQRVW\NDLWHUDSLDZDGSáRGX IHWRORJLD 'LD SDGNX SU]HSXNOLQ QLH]DZLHUDMąF\FK ZąWURE\ QD QD JQRVW\NDSUHQDWDOQDVWZDU]DPRĪOLZRĞü W\FKPLDVWRZHRGSURZDG]HQLHWU]HZLGRMDP\EU]XV] ]DSODQRZDQLDZáDĞFLZHJRWHUPLQXLGURJLSRURGX QHM L SRGZLą]DQLH V]QXUD SĊSRZLQRZHJR X SRGVWDZ\ SU]HSURZDG]HQLDSRURGXZRĞURGNXG\VSRQXMąF\P DXWRUNLONDNURWQLH]DELHJWDNL]SRZRG]HQLHPZ\NR QDMOHSV]\PL ZDUXQNDPL GR OHF]HQLD QRZRURGND QDá 3RXURG]HQLXMHOLWRZ\SHáQLDVLĊSRZLHWU]HPLMXĪ maternal transport NLONDJRG]LQSRSRURG]LHWDNL]DELHJVWDMHVLĊQLHZ\ SU]\JRWRZDQLD URG]LFyZ GR XURG]HQLD G]LHFND NRQDOQ\ IRW ]ZDGDPLUR]ZRMRZ\PLLX]JRGQLHQLDRSW\PDOQH 1DMZLĊNV]\P ]DJURĪHQLHP GOD QRZRURGND V]F]HJyO JRVSRVREXOHF]HQLD QLHSU]HGZF]HĞQLHXURG]RQHJR]QLVNąPDVąFLDáDMHVW Z V]F]HJyOQLH GREUDQ\FK SU]\SDGNDFK ± SRGMĊFLD Z\FKáRG]HQLHL]DNDĪHQLH6WąGXQLNQLĊFLHNRQLHF]QR WHUDSLLSáRGX ĞFLWUDQVSRUWXFKRUHJRQRZRURGNDF]\OLW]ZWUDQVSRUW ]DQLHFKDQLD ZV]HONLFK G]LDáDĔ OXE SU]HUZDQLD ZáRQLHPDWNLQLH]DOHĪQLHRGURG]DMXZDG\F]\FKR FLąĪ\ Z SU]\SDGNDFK GR]ZRORQ\FK SUDZHP URE\SU]\QRVLRF]\ZLVWHNRU]\ĞFLLQLHZ\PDJDX]D L]JRGQ\FK]VXPLHQLHPSU]\V]áHMPDWNLLURG]LQ\ VDGQLHQLD QLHQDURG]RQHJRG]LHFND 'XĪ\ JX] NU]\ĪRZRRJRQRZ\ ZRGRJáRZLH ZURG]R 2WRNLONDSU]\NáDGyZ:H ZURG]RQ\P Z\WU]HZLHQLX QH ROEU]\PL QDF]\QLDN OLPIDW\F]Q\ V]\L VWZDU]DMą gastroschisis MHOLWRZNRQWDNFLH]Sá\QHPRZRGQLR ]DJURĪHQLH GOD SUDZLGáRZHJR SU]HELHJX SRURGX RUD] Z\PV]F]HJyOQLHZSyĨQLHMV]\PRNUHVLHFLąĪ\XOHJD JURĪą XV]NRG]HQLHP SáRGX GODWHJR SRUyG FHVDUVNLP QLHNRU]\VWQ\P ]PLDQRP REU]ĊN SRJUXELHQLH FLĊFLHPMHVWMDNQDMEDUG]LHMX]DVDGQLRQ\ IRW LV]W\ZQRĞüĞFLDQ ZVNXWHNF]HJRSRXURG]HQLXGáXJR 3RF]ąWNRZR Z NDĪG\P SU]\SDGNX UR]SR]QDQHM ZDG\ QLH SRGHMPXMH VZRLFK IXQNFML L G]LHFNR PXVL E\ü SáRGXFLąĪĊUR]ZLą]\ZDQRFHVDUVNLPFLĊFLHP=F]D Ī\ZLRQH SR]DMHOLWRZR 3U]\VSLHV]HQLH SRURGX SR VHP MHGQDN MDN WR E\ZD ZH ZV]HONLFK QRZDWRUVNLFK SRWZLHUG]HQLX GRMU]DáRĞFL SáXF D ZLĊF ]GROQRĞFL GR G]LDáDQLDFK Z\ND]DQR ĪH QS Z SU]\SDGNX ZURG]R Ī\FLDSR]DáRQRZHJRMHVWMDNQDMEDUG]LHMX]DVDGQLRQH QHJR Z\WU]HZLHQLD F]\ PDáHM SU]HSXNOLQ\ SĊSRZLQR .LHG\SáXFDVąMHV]F]HQLHGRMU]DáHGODSRSUDZ\VWDQX ZHMFHVDUVNLHFLĊFLHQLHMHVWNRQLHF]QH MHOLW PRĪQD GRNRQDü Z\PLDQ\ Sá\QX RZRGQLRZHJR 5RG]LFHSRLQIRUPRZDQLZF]HĞQLHM]MDNąZDGąG]LHF ĝFLVáHPRQLWRURZDQLHSáRGX]ZURG]RQ\PZ\WU]HZLH NR VLĊ XURG]L MDNLH Vą URNRZDQLD FR GR PRĪOLZRĞFL QLHP SR]ZDOD WHĪ QD Z\NU\FLH VDPRLVWQHJR ]DP\ND OHF]HQLDLV]DQVHQDGDOV]\UR]ZyMG]LHFNDPDMąPRĪ QLD VLĊ RWZRUX Z SRZáRNDFK EU]XV]Q\FK JURĪąFHJR OLZRĞüZ\EUDQLDVSRVREXSRVWĊSRZDQLDQS]DQLHFKD VDPRDPSXWDFMąFDáHJRZ\WU]HZLRQHJRMHOLWD2F]\ZL QLDG]LDáDĔQDG]Z\F]DMQ\FK=JRGDQDOHF]HQLHXG]LH ĞFLHSRUyGWDNLPXVLRGE\üVLĊZRĞURGNXG\VSRQXMą ORQD SU]HG XURG]HQLHP SU]HG\VNXWRZDQD ZVSyOQLH F\P QDMOHSV]\PL ZDUXQNDPL RSLHNL QDG ZF]HĞQLD ]RERMJLHP URG]LFyZ EĊG]LH Z SHáQL ĞZLDGRPD FR NLHP RUD] PRĪOLZRĞFLą V]\ENLHM LQWHUZHQFML FKLUXU SR]ZROLXQLNQąüZLHOXVWUHVyZUR]F]DURZDĔDQDZHW JLF]QHM SUHWHQVML 284 DIAGNOSTYKA I TERAPIA WAD PŁODU Fot. 3. Guz krzyżowo-ogonowy (mat. własny). Photo 3. Sacrococygeal teratoma (own material). Fot. 1. Przepuklina pępowinowa (mat. własny). Photo 1. Omphalocoele (own material). Fot. 4. Naczyniak limfatyczny szyi. Photo 4. Lymphangioma coli (own material). : SU]\SDGNX ZDG ]DJUDĪDMąF\FK Ī\FLX SáRGX OXE VNXWNXMąF\FKWUZDá\PNDOHFWZHPSRGHMPXMHVLĊ SUy E\ LQWHUZHQFML SU]HGXURG]HQLRZ\FK : SU]\SDGNDFK FLĊĪNLFK ZDG JHQHW\F]Q\FK OXE ZDG MHGQR]QDF]QLH Z\NOXF]DMąF\FK SU]HĪ\FLH URG]LFH PRJą ]GHF\GRZDü R ]DQLHFKDQLX MDNLFKNROZLHN G]LDáDĔ SR XURG]HQLX G]LHFND OXE QDZHW Z SU]\SDGNDFK SU]HZLG]LDQ\FK SUDZHP L SR]RVWDMąF Z ]JRG]LH ] ZáDVQ\P VXPLH QLHP]GHF\GRZDüRWHUPLQDFMLFLąĪ\3UHF\]MDLV]\E NRĞü SU]HGXURG]HQLRZHM GLDJQR]\ PD WXWDM QLHEDJD WHOQH ]QDF]HQLH 0RĪQD ZLĊF MHGQR]QDF]QLH VWZLHU G]Lü ĪH GLDJQRVW\ND SU]HGSRURGRZD ZSá\ZD QD SR SUDZĊRSLHNLSHULQDWDOQHMQDGQRZRURGNLHPDZSHZ Q\FKSU]\SDGNDFKMHVWGHF\GXMąFDR]DFKRZDQLXĪ\FLD LZ\OHF]HQLXQRZRURGND =JRGQLH]RERZLą]XMąF\PL]DVDGDPLNRELHWDZFLąĪ\ SRZLQQD PLHü Z\NRQDQH WU]\NURWQLH EDGDQLH XOWUDVR QRJUDILF]QH RNRáR W\JRGQLD ± PLQ PRĪQD VWZLHUG]Lü W]Z Fot. 2. Wrodzone wytrzewienie (mat. własny). Photo 2. Gastroschisis (own material). SU]H]LHUQRĞü NDUNX L LQQH REMDZ\ ĞZLDGF]ąFH RLVWQLHQLXZDG\JHQHW\F]QHMW]ZWULVRPLL 285 ANNALES ACADEMIAE MEDICAE SILESIENSIS 2013, 67, 5 Z±W\JRGQLX±PRĪQDZ\NU\üZDG\VWUXNWX ']LĊNL QRZ\P PRĪOLZRĞFLRP GLDJQRVW\F]Q\P płód UDOQHSáRGX stał się pacjentem *áyZQ\P ZDUXQNLHP SRGMĊFLD Z W\JRGQLX ± PRĪQD RFHQLü GRMU]DáRĞü SáRGX MHJR WHUDSLL MHVW RNUHĞOHQLH NDULRW\SX 3RGVWDZą MHVW MHJRÄJRWRZRĞü´GRSU]\MĞFLDQDĞZLDW WDE, EDGDQLH Sá\QX RZRGQLRZHJR X]\VNDQHJR GURJą DP QLRSXQNFML OXE EDGDQLH NUZL SĊSRZLQRZHM X]\VNDQHM Tabela I. Zalecane planowe badania ultrasonograficzne w ciąży GURJą NRUGRFHQWH]\ 3RVWĊSRZDQLHP áDWZLHMV]\P Table I. Recommended USG examination during pregnancy LEH]SLHF]QLHMV]\PMHVWDPQLRSXQNFMD F]ĊVWRĞüSRZL Wiek Cel badań NáDĔSRQLĪHM -HMZ\QLNRWU]\PXMHP\SRGZyFK określenie liczby płodów W\JRGQLDFK QDWRPLDVW Z\QLN NDULRW\SX ]NUZL SĊSR określenie wieku ciążowego ZLQRZHM Z FLąJX GZyFK GQL -HVW WR MHGQDN EDGDQLH ocena przezierności karkowej I: 11–14 tydzień REDUF]RQH QLHFR ZLĊNV]\P U\]\NLHP SRZLNáDĔ FKRü ocena długości kości udowej REHFQLH XZDĪD VLĊ ĪH Z RĞURGNDFK SRVLDGDMąF\FK stwierdzenie obecności przepukliny pępowinowej (po 14 tygodniu) GRĞZLDGF]HQLH WM Z\NRQXMąF\FK FR QDMPQLHM II: 18–22 tydzień wykrycie wad strukturalnych płodu NRUGRFHQWH]URF]QLHMHVWRQRQLHZLHONLHSRGREQHGR ocena rozwoju płodu U\]\ND]ZLą]DQHJR]DPQLRFHQWH]ą1RZHPRĪOLZRĞFL ocena objętości płynu owodniowego SU]\QLRVáR WHĪ VWZLHUG]HQLH REHFQRĞFL NRPyUHN SáR III: 30–32 tydzień ocena stanu łożyska GRZ\FKZHNUZLPDWNL±RSUDFRZDQLHPHWRGLFKL]R zaplanowanie porodu ODFMLXPRĪOLZLRNUHĞOHQLHNDULRW\SXEH]NRQLHF]QRĞFL Z\NRQ\ZDQLDEDGDĔLQZD]\MQ\FK 2SLV EDGDĔ XOWUDVRQRJUDILF]Q\FK MHVW RF]\ZLĞFLH %DUG]RZDĪQDSU]HGSRGMĊFLHPGHF\]MLRHZHQWXDOQHM
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