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Klasyfikacja ICD-10 (International Classification of Diseases

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Klasyfikacja ICD-10 (International Classification of Diseases EDYTORIAL Diagnostyka i terapia wad płodu – aktualny stan wiedzy i praktyki Diagnostics and therapy of fetal malformations – – current knowledge and practice Janusz Bohosiewicz STRESZCZENIE Diagnostyka i terapia wad płodu to nowa, burzliwie rozwijająca się gałąź medy- Klinika Chirurgii Dziecięcej Wydziału Lekarskiego w Katowicach cyny. Prenatalne rozpoznanie wady pozwala ustalić najkorzystniejszy czas, miej- Śląskiego Uniwersytetu Medycznego sce i drogę porodu. Można poinformować rodziców i uzgodnić z nimi plan w Katowicach i zakres leczenia po urodzeniu. Dysponujemy obecnie szeroką gamą możliwości SPSK nr 6 diagnostycznych, od badań biochemicznych i USG począwszy, przez echo serca, Górnośląskie Centrum Zdrowia Dziecka im. Jana Pawła II doppler-USG, rezonans magnetyczny, na badaniach inwazyjnych, czyli amnio- punkcji i kordocentezie, skończywszy. W wybranych przypadkach możliwe są również interwencje płodowe. Należą do nich: szantowanie, czyli łączenie jam ciała z jamą owodni, fetoskopia oraz ope- racje na otwartej macicy. Współcześnie zabiegi te wykonuje się m.in. w przy- padkach: torbielowatości płuc, przepukliny przeponowej, wodogłowia, przepu- kliny oponowo-rdzeniowej oraz zespołu podkradania w ciąży bliźniaczej. Wskazaniem do interwencji płodowej jest zagrożenie życia płodu, istotne zabu- rzenie jego rozwoju lub możliwość zmniejszenia zakresu kalectwa. Należy podkreślić, że nadal najlepszym czasem do leczenia wad rozwojowych jest okres po urodzeniu. Interwencje płodowe pozostają na etapie nabywania doświadczeń i powinny być wykonywane tylko w wybranych, wysoko wyspecja- lizowanych ośrodkach. ADRES DO KORESPONDENCJI: Prof. dr hab. n. med. Janusz Bohosiewicz SŁOWA KLUCZOWE Klinika Chirurgii Dziecięcej diagnostyka wad płodu, terapia wad płodu Wydziału Lekarskiego w Katowicach Śląskiego Uniwersytetu Medycznego w Katowicach SPSK nr 6 ABSTRACT Górnośląskie Centrum Zdrowia Dziecka im. Jana Pawła II ul. Medyków 16 Fetal diagnostics and therapy is a new, intensively developing branch of medi- 40-752 Katowice tel. +48 32 207 17 50 cine. Thanks to prenatal diagnosis, we are able to determine the most advanta- fax. +48 32 207 18 02 geous time, location and method of delivery. We can inform the parents and e-mail: [email protected] discuss a postnatal treatment plan. We currently have a wide range of diagnostic opportunities: biochemical analyzes, ultrasonography, echography, doppler ultra- Ann. Acad. Med. Siles. 2013, 67, 5, 283–293 Copyright © Śląski Uniwersytet Medyczny sonography, magnetic resonance imaging as well as more invasive studies such w Katowicach as amniocentesis and cordocentesis. eISSN 1734-025X 283 ANNALES ACADEMIAE MEDICAE SILESIENSIS 2013, 67, 5 Fetal interventions are also possible in some selected cases. These include amniotic shunting, fetoscopy and operations with opening the uterus. These procedures are currently performed in cases of congenital cystic ade- nomatoid malformation, diaphragmatic hernia, hydrocephalus, myelomeningocele twin-to-twin transfusion syn- drome and others. The indications for fetal intervention are the threat of fetal death and essential developmental disorders. Fetal procedures also allow us to reduce a child's disability. It should be emphasized that the postnatal period is still the best time for operations on developmental abnormal- ities. Prenatal procedures remain at the stage of clinical studies and should be performed only in selected, highly specialized centers. KEY WORDS fetal diagnosis, fetal therapy Przez wieki płód rozwijający się w łonie matki pozo- W przypadku przepukliny pępowinowej (omphaloce- stawał istotą nieznaną. Olbrzymi postęp medycyny le), kiedy wiadomo, że jelito nie ma kontaktu z pły- w XX wieku i wprowadzenie nowoczesnych metod nem owodniowym, dziecko czeka często wieloetapo- obrazowania, przede wszystkim ultrasonografii, po- we leczenie, można się także spodziewać innych wad, zwoliły poznać fizjologię rozwoju płodu, a z czasem głównie serca. Korzystne jest wówczas, by ciąża trwa- także rozpoznawać jego choroby i wady. Rozpoczął ła dłużej i płód urodził się bardziej dojrzały. Obecność się burzliwy rozwój nowej dziedziny medycyny, jaką chirurga dziecięcego przy porodzie pozwala w przy- jest diagnostyka i terapia wad płodu (fetologia). Dia- padku przepuklin niezawierających wątroby na na- gnostyka prenatalna stwarza możliwość: tychmiastowe odprowadzenie trzewi do jamy brzusz- 1) zaplanowania właściwego terminu i drogi porodu, nej i podwiązanie sznura pępowinowego u podstawy 2) przeprowadzenia porodu w ośrodku dysponującym (autor kilkakrotnie zabieg taki z powodzeniem wyko- najlepszymi warunkami do leczenia noworodka nał). Po urodzeniu jelito wypełnia się powietrzem i już (maternal transport), kilka godzin po porodzie taki zabieg staje się niewy- 3) przygotowania rodziców do urodzenia dziecka konalny (fot. 1, 2). z wadami rozwojowymi i uzgodnienia optymalne- Największym zagrożeniem dla noworodka, szczegól- go sposobu leczenia, nie przedwcześnie urodzonego, z niską masą ciała, jest 4) w szczególnie dobranych przypadkach – podjęcia wychłodzenie i zakażenie. Stąd uniknięcie konieczno- terapii płodu, ści transportu chorego noworodka, czyli tzw. transport 5) zaniechania wszelkich działań lub przerwania w łonie matki, niezależnie od rodzaju wady czy cho- ciąży w przypadkach dozwolonych prawem roby, przynosi oczywiste korzyści i nie wymaga uza- i zgodnych z sumieniem przyszłej matki i rodziny sadnienia. nienarodzonego dziecka. Duży guz krzyżowo-ogonowy, wodogłowie wrodzo- Oto kilka przykładów: We wrodzonym wytrzewieniu ne, olbrzymi naczyniak limfatyczny szyi stwarzają (gastroschisis) jelito w kontakcie z płynem owodnio- zagrożenie dla prawidłowego przebiegu porodu oraz wym, szczególnie w późniejszym okresie ciąży, ulega grożą uszkodzeniem płodu, dlatego poród cesarskim niekorzystnym zmianom (obrzęk, pogrubienie cięciem jest jak najbardziej uzasadniony (fot. 3, 4). i sztywność ścian), wskutek czego po urodzeniu długo Początkowo w każdym przypadku rozpoznanej wady nie podejmuje swoich funkcji i dziecko musi być płodu ciążę rozwiązywano cesarskim cięciem. Z cza- żywione pozajelitowo. Przyspieszenie porodu, po sem jednak, jak to bywa we wszelkich nowatorskich potwierdzeniu dojrzałości płuc, a więc zdolności do działaniach, wykazano, że np. w przypadku wrodzo- życia pozałonowego, jest jak najbardziej uzasadnione. nego wytrzewienia czy małej przepukliny pępowino- Kiedy płuca są jeszcze niedojrzałe dla poprawy stanu wej cesarskie cięcie nie jest konieczne. jelit, można dokonać wymiany płynu owodniowego. Rodzice poinformowani wcześniej, z jaką wadą dziec- Ścisłe monitorowanie płodu z wrodzonym wytrzewie- ko się urodzi, jakie są rokowania co do możliwości niem pozwala też na wykrycie samoistnego zamyka- leczenia i szanse na dalszy rozwój dziecka, mają moż- nia się otworu w powłokach brzusznych, grożącego liwość wybrania sposobu postępowania, np. zaniecha- samoamputacją całego wytrzewionego jelita. Oczywi- nia działań nadzwyczajnych. Zgoda na leczenie udzie- ście, poród taki musi odbyć się w ośrodku, dysponują- lona przed urodzeniem, przedyskutowana wspólnie cym najlepszymi warunkami opieki nad wcześnia- z obojgiem rodziców będzie w pełni świadoma, co kiem oraz możliwością szybkiej interwencji chirur- pozwoli uniknąć wielu stresów, rozczarowań, a nawet gicznej. pretensji. 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). W przypadku wad zagrażających życiu płodu lub skutkujących trwałym kalectwem, podejmuje się pró- by interwencji przedurodzeniowych. W przypadkach ciężkich wad genetycznych lub wad jednoznacznie wykluczających przeżycie rodzice mogą zdecydować o zaniechaniu jakichkolwiek działań po urodzeniu dziecka lub nawet, w przypadkach przewidzianych prawem i pozostając w zgodzie z własnym sumie- niem, zdecydować o terminacji ciąży. Precyzja i szyb- kość przedurodzeniowej diagnozy ma tutaj niebaga- telne znaczenie. Można więc jednoznacznie stwier- dzić, że diagnostyka przedporodowa wpływa na po- prawę opieki perinatalnej nad noworodkiem, a w pew- nych przypadkach jest decydująca o zachowaniu życia i wyleczeniu noworodka. Zgodnie z obowiązującymi zasadami, kobieta w ciąży powinna mieć wykonane trzykrotnie badanie ultraso- nograficzne: 1) około 13 tygodnia – m.in. można stwierdzić tzw. Fot. 2. Wrodzone wytrzewienie (mat. własny). Photo 2. Gastroschisis (own material). przezierność karku i inne objawy świadczące o istnieniu wady genetycznej, tzw. trisomii, 285 ANNALES ACADEMIAE MEDICAE SILESIENSIS 2013, 67, 5 2) w 20–22 tygodniu – można wykryć wady struktu- Dzięki nowym możliwościom diagnostycznym płód ralne płodu, stał się pacjentem. Głównym warunkiem podjęcia 3) w 30 tygodniu – można ocenić dojrzałość płodu, jego terapii jest określenie kariotypu. Podstawą jest jego „gotowość” do przyjścia na świat (tab. I). badanie płynu owodniowego uzyskanego drogą am- niopunkcji lub badanie krwi pępowinowej uzyskanej Tabela I. Zalecane planowe badania ultrasonograficzne w ciąży drogą kordocentezy. Postępowaniem łatwiejszym Table I. Recommended USG examination during pregnancy i bezpieczniejszym jest amniopunkcja (częstość powi- Wiek Cel badań kłań poniżej 0,5%). Jej wynik otrzymujemy po dwóch określenie liczby płodów tygodniach, natomiast wynik kariotypu z krwi pępo- określenie wieku ciążowego winowej w ciągu dwóch dni. 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