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Źródło: http://serwisy.gazeta.pl

Agnieszka Fedorczyk, Małgorzata T. Załoga

Badania prenatalne, czyli przedurodzeniowe przeprowadza się w I i II trymestrze ciąży po to, by wykryć uwarunkowane genetycznie choroby i wady rozwojowe płodu
 
W klasycznej metodzie inwazyjnej trzeba nakłuć macicę, by pobrać i zbadać próbkę np. płynu owodniowego (amniopunkcja). Taki zabieg wiąże się z 0,5-1-proc. ryzykiem poronienia, dlatego najczęściej jest wykonywany, gdy ryzyko pojawienia się wad jest wyższe niż ryzyko utraty ciąży. Jest tak np., kiedy kobieta ma już 35 lat albo gdy jej pierwsze dziecko urodziło się z poważnymi wadami.

Nieinwazyjnym badaniem przedurodzeniowym jest ultrasonografia (USG).

USG w kierunku zespołu Downa wykonuje się, gdy ciąża trwa kilkanaście tygodni. W obrazie widoczne są charakterystyczne objawy, np. pogrubienie skóry na potylicy i gromadzenie płynu w tkance podskórnej, skrócenie kości kończyn, poszerzenie miedniczek nerkowych, skrócenie ucha, nosa, stopy. Badanie USG pozwala wykryć powyżej 70 proc. (niektórzy uważają, że nawet powyżej 90 proc.).

Pomocnym badaniem w diagnostyce przedurodzeniowej jest tzw. test potrójny, który pozwala jedynie określić ryzyko wystąpienia wady u płodu. W pobranej od kobiety ciężarnej próbce krwi mierzy się poziom trzech substancji - alfa fetoproteiny (AFP), gonadotropiny kosmówkowej (beta hCG) i estriolu. Wyniki badania, wiek oraz wagę ciężarnej wprowadza się do komputera, który porównuje je z danymi tysiąca zdrowych Polek. W ten sposób wyłania się grupę kobiet ze zwiększonym ryzykiem urodzenia dziecka z wadą genetyczną. Bezbłędność wskazań testu potrójnego maleje, niestety, wraz z wiekiem kobiety.

Poważne wady wrodzone, w znacznej części uwarunkowane genetycznie, zagrażają życiu i zdrowiu 2 proc. noworodków i są przyczyną 20 proc. zgonów w okresie noworodkowym. Najczęstszą aberracją chromosomową jest zespół Downa, występujący z częstością 1 na 660 urodzeń. Ryzyko urodzenia dziecka z zespołem Downa i prawie wszystkimi innymi aberracjami chromosomowymi rośnie wraz z wiekiem matki. Jednak 70-80 proc. dzieci chorych rodzą matki mające mniej niż 35 lat, dlatego że wśród rodzących niewiele jest kobiet starszych.

Po co przeprowadzać badania prenatalne?

Tyle tych badań! Przecież moje dziecko już jest i na pewno je urodzę. Po co mi pobierają krew? Po co robią USG? Trzy razy podczas ciąży! A może to dziecku zaszkodzi?

Nie, nie zaszkodzi. A nie robić sobie badań w ciąży to tak, jak nie pójść z dzieckiem na kontrolę do pediatry tylko dlatego, że "wygląda zdrowo, a w przychodni jeszcze coś złapie".

Wszystkie dzieci powinny być badane profilaktycznie - także przed urodzeniem. Po to, by upewnić się, że zdrowo rosną. Nie wolno czekać, aż ewentualne choroby same się ujawnią, bo wtedy może być już za późno na skuteczne leczenie.

Większość przyszłych matek nie potrzebuje tych najbardziej skomplikowanych, inwazyjnych badań prenatalnych - może spokojnie założyć, że dziecko jest zdrowe. Pod warunkiem jednak, że matka sama jest zdrowa i właściwie przygotowała się do ciąży:

* nie pali,

* wyleczyła wszystkie zakażenia (dróg moczowych, dróg rodnych) i nadżerki szyjki macicy,

właściwie się odżywia i przyjmuje witaminy, w tym bardzo ważny w profilaktyce wad cewy nerwowej i wrodzonych wad serca kwas foliowy,

* upewniła się, że nie grożą jej choroby niebezpieczne dla ciąży.

- 95 proc. przyczyn wcześniactwa w Polsce to niewyleczone u matek zakażenia, rzeżączka, grzybice pochwy, nadżerki, kłykciny kończyste, toksoplazmoza, różyczka, grypa, cytomegalia. Konsekwencją tego mogą być różne uszkodzenia mózgu u dzieci - mówi doc. Anna Dobrzańska z Centrum Zdrowia Dziecka.

Ryzyko ciężkich wad rozwojowych i poważnych chorób wrodzonych jest bardzo niewielkie: nie przekracza trzech procent, co oznacza, że 97 dzieci na 100 rodzi się zdrowych. A dzięki badaniom prenatalnym nawet dziecko "obciążone" ma szansę urodzić się prawie całkiem zdrowe albo uda się je wyleczyć (zrehabilitować) wkrótce po urodzeniu. Tak że nie będzie się różniło od swoich rówieśników.

Strach przed ukłuciem

Prenatalne badania inwazyjne, kiedy lekarz pobiera próbkę pochodzącą od płodu, nakłuwając powłoki brzuszne matki, macicę i otaczającą płód błonę owodni, robi się rzadko - tylko kobietom z grup ryzyka.
* Po pierwsze - kobietom z rodzin, w których były już przypadki urodzenia dzieci z chorobami genetycznymi. Inwazyjne badanie prenatalne pozwala wykryć nie tylko wady genetyczne, które często skazują dziecko na śmierć tuż po urodzeniu albo przed osiągnięciem dorosłości (np. dystrofia mięśniowa Duchenne'a czy mukowiscydoza, które prowadzą do śmierci przed dwudziestym rokiem życia), ale także wady powodujące ciężkie kalectwo (wrodzona wada cewy nerwowej mogąca np. prowadzić do całkowitego, nieodwracalnego paraliżu dolnej połowy ciała).

- Matka, która już urodziła chore dziecko, często obawia się, że znów dojdzie do tragedii. Badanie prenatalne pozwala jej upewnić się, że ta ciąża zakończy się szczęśliwie - mówi prof. Jacek Zaremba, kierownik Zakładu Genetyki Instytutu Psychiatrii i Neurologii w Warszawie* Po drugie - kobietom, które decydują się na macierzyństwo po 35. roku życia.

Dziś już wiadomo: ryzyko urodzenia dziecka z zespołem Downa albo inną ciężką wadą genetyczną rośnie z wiekiem matki. A dzieci z zespołem Downa nie tylko są mniej sprawne umysłowo od swoich zdrowych rówieśników, częściej niż inne miewają też np. kłopoty z sercem. Nie sposób im pomóc, jeśli przyjdą na świat w małym szpitalu, nie przygotowanym do skomplikowanych operacji.

Wczesna, prenatalna diagnoza daje rodzicom szansę na przygotowanie się na przyjście na świat takiego dziecka albo - jeśli nie czują się na siłach, by bardzo ciężko upośledzonemu dziecku zapewnić opiekę - na decyzję o przerwaniu ciąży.

Tylko u 3 do 4 proc. kobiet z grupy ryzyka rozpoznaje się wadę płodu. Reszta, czyli ponad 96 proc., dowiaduje się, że płód jest zdrowy.

Mieszkanko na miarę

Kiedyś dużo częściej niż dziś rodziły się dzieci z trudnymi do leczenia zniekształceniami ciała. Co było najczęściej wynikiem nieprawidłowej pracy nerek, które produkują zbyt mało wód płodowych i dziecko po prostu nie ma miejsca, by "rozprostować kości".

- Dziś - jeśli tylko nie zaniedba się badań prenatalnych - lekarz może to wykryć dzięki USG na tyle wcześnie, by uzupełnić niedostatek wód płodowych i nie dopuścić do powstania trwałych przykurczy. - Niezależnie od tego takiemu dziecku po urodzeniu koniecznie trzeba zbadać nerki - mówi doc. Anna Dobrzańska.

Wód płodowych powinno być ok. 1,5-2 litrów. Jeśli jest ich za dużo, też niedobrze. Może to świadczyć o nieprawidłowościach w przewodzie pokarmowym dziecka - np. o zarośnięciu przełyku lub dwunastnicy. - Dziecko z nierozpoznaną wadą może zachłysnąć się pierwszym łykiem mleka, a w konsekwencji dostać zapalenia płuc, a nawet się udusić - wyjaśnia doc. Dobrzańska. Takie dzieci umiemy dziś operować już wkrótce po urodzeniu. Trzeba je jednak dobrze przygotować. W żadnym wypadku nie wolno karmić ich piersią ani z butelki, tylko dożylnie.

Patrz w serce

Dawniej czujność rodziców i lekarzy wzrastała, kiedy w pierwszych miesiącach życia niemowlę nie przybierało na wadze, rozwijało się gorzej niż rówieśnicy. Co może być przyczyną? Serce? Nerki? Płuca?

Najczęstszą wadą narządów wewnętrznych jest wada serca. Lekarz położnik powinien obejrzeć serce płodu podczas badania USG wykonywanego około dwudziestego tygodnia ciąży. Jeśli ma wątpliwości, czy jest ono zdrowe, powinien skierować matkę na badanie echokardiograficzne, wykonywane przez kardiologa dziecięcego. - Wady serca stosunkowo najtrudniej wykryć w badaniu USG - zaznacza dr Joanna Dangel z Centrum Zdrowia Dziecka w Warszawie. - Ale np. we Francji ponad 70 proc. noworodków operuje się na podstawie diagnostyki prenatalnej. Najważniejsze, by lekarz neonatolog niczego nie przegapił i nie wypisał dziecka z wadą serca do domu jako zdrowego - podkreśla dr Dangel.

Wszystkim dzieciom matek, które same mają wrodzoną wadę serca (zarówno operowaną, jak i nieoperowaną), kardiolog dziecięcy powinien zrobić - jeszcze przed urodzeniem - USG serca. Istnieje bowiem kilkakrotnie większe ryzyko, że odziedziczą wadę po matce. Najczęściej lubią się "powtarzać" wrodzone wady lewej połowy serca oraz zwężenie aorty, tzw. zespół Fallota, pojedyncza komora serca. - Od dwudziestu kilku lat potrafimy operować te wady. Pacjentki, u których kiedyś operowaliśmy wrodzone wady serca, wchodzą teraz w wiek rozrodczy. Musimy zatem dbać także o ich dzieci - mówi dr Dangel.

Echokardiografia serca płodu powinna być obowiązkowa także u kobiet chorych na cukrzycę, choroby reumatoidalne czy padaczkę, w rodzinach których występowały takie genetycznie uwarunkowane choroby jak zespół Turnera, dystrofia mięśniowa Duchenne'a czy zespół Noonan. U nich wzrasta bowiem ryzyko, że noszone pod sercem dziecko będzie mieć wadę serca.

Nerki pod lupą

Bardzo wiele dzieci trafia do szpitala, gdy pojawiają się objawy zakażenia dróg moczowych: gorączka, bóle brzucha, zaburzenia oddawania moczu. Dopiero po dokładnych badaniach okazuje się, że przyczyną tych zakażeń są wrodzone wady rozwojowe dróg moczowych, najczęściej prowadzące do wodonercza. Przy wodonerczu albo odpływ moczu z miedniczki nerkowej jest utrudniony lub zablokowany (np. z powodu kamienia, zwężenia moczowodu, nieprawidłowego przebiegu naczyń), albo (z powodu nieprawidłowego ujścia moczowodów do pęcherza moczowego) mocz cofa się z pęcherza do miedniczki przy każdym siusianiu. Rozpychana przez mocz miedniczka powiększa się, a długotrwały ucisk na miąższ nerki może doprowadzić do jej niewydolności i całkowitego zniszczenia.

- Dziś coraz częściej wodonercze wykrywa się już u płodu w czasie badania USG - mówi prof. Czesław Szymkiewicz, kierownik Kliniki Urologii w Centrum Zdrowia Dziecka. To umożliwia szybką operację - jeśli to konieczne - albo roztoczenie nad dzieckiem fachowej opieki. Można uniknąć ciężkich zakażeń, leżenia w szpitalu, antybiotyków, i ocalić wiele nerek.

Inną ciężką wadą rozwojową układu moczowego (występującą tylko u chłopców) są tzw. zastawki cewki tylnej. Nieprawidłowe fałdy w cewce moczowej (zastawki) utrudniają odpływ moczu z pęcherza moczowego. W rezultacie dochodzi do ciężkiego uszkodzenia nerek, niekiedy już w okresie życia płodowego.

Jeszcze w latach 60. co czwarte dziecko z ciężką postacią tej wady umierało bezpośrednio po porodzie lub w pierwszych miesiącach życia z powodu pogłębiającej się niewydolności nerek. - Dziś wadę tę można wykryć dzięki USG już we wczesnym okresie ciąży. Można też nakłuć pęcherz moczowy płodu w łonie matki i wprowadzić do niego cewnik, który umożliwi stały odpływ moczu z pęcherza do płynu owodniowego - wyjaśnia prof. Szymkiewicz. To zabezpiecza nerki przed uszkodzeniem. A kiedy dziecko się urodzi, przeprowadza się zabieg likwidujący zastawki - przyczynę choroby.

Żeby mogło odetchnąć pełną piersią

Kiedyś bywało, że dziecko długo chorowało na płuca i oskrzela i nikt nie wiedział dlaczego. Dostawało tony antybiotyków. Wielokrotnie leżało w szpitalu. I nic. Zanim lekarzom udało się odkryć, że przyczyną jest wrodzona wada oskrzeli, płuco mogło już być całkowicie zniszczone.

Dziś wady układu oddechowego można wykryć w łonie matki - za pomocą USG. - Wczesna operacja polega na wycięciu zmienionego fragmentu płuca i oskrzeli. Taki zabieg pozwala w przyszłości uniknąć wielu ciężkich powikłań - wyjaśnia dr Joanna Dangel.

Tak samo dzieci z przepukliną przeponową (wadą polegającą na niecałkowitym oddzieleniu jamy brzusznej od klatki piersiowej) - nie miały praktycznie żadnych szans na przeżycie. Przychodziły bowiem na świat z niedorozwiniętymi płucami i sercem. Powodem niedorozwoju była "dziura" w przeponie - przez nią jelita, żołądek, a niekiedy także inne narządy wewnętrzne przesuwały się do klatki piersiowej i nie pozwalały odpowiednio rozwinąć się płucom i sercu.

Dziś takie dzieci próbuje się ratować. Trzeba tylko zawczasu wiedzieć, że w przeponie są ubytki. - Poród przeprowadzony w ośrodku, który ma możliwość intensywnej terapii, wyposażony jest np. w respirator, i wczesna operacja często pozwalają uratować dziecko. Choć jest to wada bardzo trudna do leczenia - mówi dr Dangel. W innych krajach wady przepony próbuje się leczyć operacyjnie już w łonie matki, ale takie operacje nadal są rzadkością.

Chłopczyk czy dziewczynka

Jedną z częstszych wad rozwojowych zewnętrznych narządów płciowych jest tzw. obojnactwo rzekome żeńskie. Jego przyczyną jest nieprawidłowa czynność kory nadnerczy płodu. Produkują one u dziewczynek nadmierne ilości męskich hormonów. Dlatego po urodzeniu zewnętrzne narządy płciowe dziewczynki przypominają zewnętrzne narządy płciowe chłopca.

Dziś już można temu zapobiec. Kobiety, u których w rodzinie zdarzały się przypadki wrodzonego przerostu kory nadnerczy, już na początku ciąży powinny poddać się badaniom. Określenie płci płodu (badanie polega na analizie chromosomów w próbce komórek płodu) i poziomu hormonów kory nadnerczy u matki pozwala bardzo wcześnie, bo już między 6-8 tygodniem ciąży rozpocząć odpowiednie leczenie.

Matce podaje się leki hormonalne, dzięki czemu płód w jej łonie może rozwijać się prawidłowo. Dziecko ma szansę urodzić się całkiem zdrowe albo tylko z niewielką wadą zewnętrznych narządów płciowych.

Inny problem to zespół Turnera. Dziewczynki z tą chorobą rodzą się tylko z jednym chromosomem X, podczas gdy prawidłowo powinny mieć dwa. Skutkiem jest nie tylko niski wzrost (ok. 130-140 cm), ale także wady serca i nerek oraz niedorozwój narządów płciowych. Niedobory hormonów płciowych powodują, że dziewczynki z tą wadą nie zaczynają miesiączkować i są bezpłodne.

Niestety, nie zawsze objawy są widoczne już po urodzeniu. Jedna trzecia wad rozpoznawana jest w dzieciństwie z powodu niskiego wzrostu. A aż jedna trzecia dopiero w okresie dojrzewania - z powodu braku miesiączki. Tymczasem tę wadę można podejrzewać już w okresie ciąży - na podstawie pewnych objawów widocznych w USG (np. pogrubiały fałd skóry na karku) i potwierdzić badaniem chromosomalnym (określenie kariotypu). Właściwa diagnoza pozwala na zmniejszenie do minimum skutków niedoborów hormonalnych, tak aby umożliwić jak najbardziej prawidłowy rozwój. Można uzupełniać u tych dzieci hormon wzrostu w dzieciństwie, a hormony płciowe od okresu pokwitania.

By się mogło urodzić

Dawniej dzieci z ciężkim wodogłowiem nie mogły przyjść na świat siłami natury i umierały przy porodzie. Przy ciężkim, bardzo przedłużającym się porodzie często umierała też matka. Wrodzone wodogłowie to wada, w której płyn wytwarzany przez splot naczyń w komorach mózgu nie może się przemieszczać do innych przestrzeni i rozdyma komory mózgu. A ponieważ czaszka ma określoną pojemność, ucisk od wewnątrz niszczy tkankę mózgową.

Wodogłowie można rozpoznać badaniem USG. Wtedy wiadomo, że poród musi się odbyć cesarskim cięciem i zaraz potem trzeba jak najszybciej zmniejszyć ciśnienie wewnątrz czaszki, a nadmiar płynu z mózgu skierować do przedsionka serca albo do jamy otrzewnej. Możliwe jest też wykonanie takiego zabiegu jeszcze w łonie matki. Wtedy delikatna tkanka mózgu ma szansę na prawidłowy, niemal niezakłócony rozwój, a dziecko - na normalne życie.

Dobrze mieć bliźniaka

W pokoleniu naszych rodziców czy dziadków bliźnięta jednojajowe (te identyczne) należą do wyjątków. Co innego w pokoleniu dzisiejszych trzydziestolatków. Bo od trzydziestu kilku lat przeżywa więcej bliźniąt niż dawniej. Nadal jednak ciąża mnoga jednojajowa to ciąża większego ryzyka. U takich bliźniaków może występować tzw. zespół podkradania. Ma to miejsce wtedy, gdy istnieją w łożysku nieprawidłowe połączenia naczyniowe (tętnicze lub żylne) między jednym a drugim bliźniakiem. Wtedy jeden drugiemu może zabierać krew, przez to ten drugi gorzej i wolniej się rozwija. W skrajnych przypadkach może obumrzeć. Ten większy zaś może mieć niewydolność krążenia, bo jego serce cały czas pompuje nadmiar krwi.

Dziś najczęściej już od pierwszego USG wiadomo, ile jest płodów. Matka bliźniąt jest pod szczególną opieką lekarską. Powinna przynajmniej raz na miesiąc pokazać się u lekarza, a jeśli czuje nieprawidłowe (za słabe lub za mocne) ruchy płodu - nawet częściej.

Lekarz powinien badać stan zdrowia dzieci, zanim się urodzą - co miesiąc.

Konflikt plusa i minusa

Problem pojawia się w drugiej i kolejnych ciążach, jeśli matka ma ujemny czynnik Rh, a kolejne dziecko w jej łonie odziedziczyło po ojcu dodatni. Przeciwciała matki przedostają się w czasie ciąży przez łożysko, atakują krwinki płodu i niszczą je. Konflikt serologiczny budzi obawy, że drugie dziecko jeszcze w macicy dotknie anemia, a także że urodzi się z uszkodzeniami mózgu, nerek i innych narządów. Lekarze, o ile stwierdzą, że istnieje ryzyko (do tego wystarczy badanie krwi matki) albo ostatecznie się upewnią o jego istnieniu (za pomocą kordocentezy - pobrania próbki krwi płodu z żyły pępowinowej pod kontrolą USG) - mogą przeprowadzić jeszcze w łonie matki transfuzję dopłodową. Krew płodu wywołującą konflikt zastępuje się krwią o tej samej grupie, ale z ujemnym (tak jak u matki) czynnikiem Rh. To pozwala bezpiecznie donosić ciążę.

Ryzyko konfliktu serologicznego można zminimalizować, jeśli kobiecie po porodzie lub zabiegach interwencyjnych poda się odpowiednią dawkę immunoglobulin neutralizujących szkodliwe przeciwciała. Jest to całkowicie bezpieczne dla matki, a pozwala z większą ufnością oczekiwać kolejnej ciąży. Ultrasonografia (USG)

- Nie ma żadnej pracy naukowej, która by stwierdzała, że badania USG są szkodliwe dla płodu - mówi dr Joanna Dangel, kardiolog dziecięcy z Centrum Zdrowia Dziecka w Warszawie, od dziesięciu lat zajmująca się prenatalną diagnostyką kardiologiczną.

Badanie USG pozwala lekarzowi obejrzeć dziecko, kiedy od poczęcia minęło zaledwie dziesięć tygodni. To także dlatego dzieci leczy się dziś szybciej i skuteczniej niż kiedyś.

Jeśli ciąża przebiega prawidłowo, USG wykonuje się:

* ok. 10. tyg. ciąży - by przekonać się o jej istnieniu i stwierdzić, czy jest pojedyncza czy mnoga,

* między 18.-20. tyg. - bada się stan i ułożenie łożyska (przodujące grozi powikłaniami i wyklucza poród siłami natury, nisko schodzące wymaga starannego i częstszego niż normalnie monitorowania przebiegu ciąży) i rozwój dziecka (głowa, kręgosłup, klatka piersiowa, serce, przepona, żołądek, nerki, pęcherz moczowy, nogi, palce). W tym czasie jest to widoczne najlepiej. Już wtedy można też stwierdzić takie wady jak np. rozszczep wargi i podniebienia.

* ok. 28. tyg. - porównuje się wyniki drugiego badania, sprawdza, czy dziecko prawidłowo rośnie.

* w 38. tyg. (ewentualnie) - sprawdza się ułożenie płodu i planuje poród (siłami natury albo za pomocą cesarskiego cięcia).


 

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