Atrezja przełyku i przetoka tchawiczo-przełykowa
Diagnostyka i diagnoza

Zarośnięcie przełyku (OA) oraz przetoka tchawiczo-przełykowa (TEF) to rzadkie wady wrodzone o częstości 1:2500–1:4500 żywych urodzeń, charakteryzujące się przerwaniem ciągłości przełyku lub nieprawidłowym połączeniem tchawicy z przełykiem. Diagnostyka prenatalna opiera się głównie na ultrasonografii, gdzie istotne są objawy takie jak wielowodzie, brak widocznego żołądka oraz „objaw kieszonki” (pouch sign), oraz na rezonansie magnetycznym płodu, który wykazuje 100% czułość w grupie wysokiego ryzyka. Po urodzeniu rozpoznanie potwierdza próba wprowadzenia zgłębnika nosowo-żołądkowego (8F u wcześniaków, 10F u donoszonych), który zatrzymuje się na 10-15 cm w przypadku OA. Badania obrazowe, w tym radiografia klatki piersiowej i jamy brzusznej, kontrastowe badanie górnego odcinka przewodu pokarmowego oraz tomografia komputerowa (CT) z czułością i swoistością 100%, pozwalają na dokładne określenie typu wady i obecności przetoki. Bronchoskopia i ezofagoskopia stanowią złoty standard w lokalizacji przetok, szczególnie typu proksymalnego, a w diagnostyce uzupełniającej stosuje się podanie błękitu metylenowego do przełyku.

Diagnostyka oesophageal atresia i tracheo-oesophageal fistula

Zarośnięcie przełyku (oesophageal atresia, OA) oraz przetoka tchawiczo-przełykowa (tracheo-oesophageal fistula, TEF) to rzadkie wady wrodzone układu pokarmowego i oddechowego, występujące z częstością od 1 na 2500 do 1 na 4500 żywych urodzeń. Wady te często występują razem, ale mogą również występować samodzielnie. Dotyczą one nieprawidłowego rozwoju przełyku i tchawicy w okresie prenatalnym, co prowadzi do przerwania ciągłości przełyku (OA) lub nieprawidłowego połączenia między tchawicą a przełykiem (TEF).123 Wczesna i dokładna diagnostyka tych wad jest kluczowa dla właściwego zaplanowania leczenia i poprawy rokowania.2

Diagnostyka prenatalna

Diagnostyka prenatalna OA/TEF jest trudna, a wiele przypadków nie jest rozpoznawanych przed porodem. Jednakże, wraz z postępem technik obrazowania prenatalnego, coraz więcej dzieci z OA/TEF jest diagnozowanych jeszcze przed urodzeniem.13 W diagnostyce prenatalnej wykorzystuje się głównie:

  • Badanie ultrasonograficzne – może wykazać wielowodzie (polyhydramnios) lub brak widocznego żołądka płodu, co może sugerować zarośnięcie przełyku.45 Szczególnie ważnym objawem jest „objaw kieszonki” (pouch sign), czyli poszerzenie ślepego końca górnego odcinka przełyku, który jest uważany za najbardziej wiarygodny wskaźnik OA w obrazowaniu prenatalnym.67
  • Rezonans magnetyczny płodu (fetal MRI) – ma nieco większą dokładność diagnostyczną niż USG, szczególnie gdy występuje brak żołądka i poszerzenie przełyku.48 Badania wykazały, że MRI płodu ma 100% czułość w diagnostyce prenatalnej zarośnięcia przełyku u niemowląt z grupy wysokiego ryzyka.7

Należy jednak zauważyć, że dokładność diagnostyki prenatalnej jest ograniczona. Badania wskazują, że USG prenatalne ma niską czułość (około 29,4%), ale dobrą swoistość (około 80%) w diagnostyce OA/TEF.9 Diagnostyka prenatalna jest bardziej prawdopodobna, gdy płód ma inne wady wrodzone wykrywalne przed porodem.3 Ze względu na wysoką częstość występowania trisomii 18 u tych niemowląt, w przypadku podejrzenia OA w badaniu prenatalnym zaleca się wykonanie kariotypowania.10

Diagnostyka po urodzeniu

Większość przypadków OA/TEF jest diagnozowana wkrótce po urodzeniu, gdy pojawią się charakterystyczne objawy.11 Wczesne objawy sugerujące OA/TEF obejmują:

  • Nadmierne ślinienie się i pieniste wydzieliny
  • Trudności w połykaniu
  • Kaszel i dławienie się podczas karmienia
  • Zasinienie (sinica) podczas karmienia
  • Trudności z oddychaniem
  • Rozdęcie brzucha (w przypadku niektórych typów TEF)10312

Podstawowe badania diagnostyczne obejmują:

Próba wprowadzenia zgłębnika

Kluczowym badaniem w diagnostyce OA jest próba wprowadzenia zgłębnika nosowo-żołądkowego lub ustno-żołądkowego do żołądka. W przypadku zarośnięcia przełyku, sztywny zgłębnik o rozmiarze 8F (u wcześniaków) lub 10F (u noworodków donoszonych) nie może przejść przez przełyk do żołądka, zatrzymując się zwykle na głębokości 10-15 cm.13214 Jest to podstawowe badanie potwierdzające diagnozę zarośnięcia przełyku.15

Badania radiologiczne

Badania obrazowe są kluczowe dla potwierdzenia rozpoznania i określenia typu wady:

  • Radiografia klatki piersiowej i jamy brzusznej – podstawowe badanie pokazujące pozycję zgłębnika zatrzymanego w ślepym końcu górnego odcinka przełyku. Obecność powietrza w żołądku i jelitach przy jednoczesnym zarośnięciu przełyku sugeruje obecność przetoki (dystalnej TEF).51612 Brak pęcherza żołądkowego może wskazywać na zarośnięcie przełyku bez przetoki lub z przetoką proksymalną.5
  • Kontrastowe badanie górnego odcinka przewodu pokarmowego – szczególnie przydatne w diagnostyce przetok typu H (bez zarośnięcia przełyku). Zaleca się użycie zagęszczonego wodorospustnego środka kontrastowego.1718 W przypadku podejrzenia przetoki typu H, badanie powinno rozpocząć się od pojedynczego kontrastu z użyciem cyfrowej fluoroskopii pulsacyjnej w pozycji bocznej prawej do lekko skośnej przedniej prawej.18 W niektórych przypadkach stosuje się metodę „prone pull-back”, gdzie zgłębnik jest umieszczany w przełyku i wycofywany przy jednoczesnym podawaniu kontrastu w pozycji leżącej na brzuchu.19
  • Tomografia komputerowa (CT) – wraz z postępem technicznym, CT zyskuje na znaczeniu w przedoperacyjnej ocenie pacjentów z OA/TEF, ponieważ pozwala na dokładne określenie anatomii przetoki i odstępu między odcinkami przełyku.18 Diagnoza OA za pomocą trójwymiarowej tomografii komputerowej jest wysoce wiarygodna, z 100% czułością i swoistością.7

Badania endoskopowe

Badania endoskopowe są ważnym elementem diagnostyki OA/TEF, zwłaszcza przed planowaną operacją chirurgiczną:

  • Bronchoskopia – wszystkie niemowlęta powinny mieć wykonaną laryngoskopię i bronchoskopię przed otwartym zabiegiem naprawczym TEF lub zarośnięcia przełyku.17 Bronchoskopia jest uważana za złoty standard w diagnostyce przetoki proksymalnej i pozwala na dokładne zlokalizowanie przetoki.1920 Sztywna bronchoskopia może być wykonana przed intubacją w celu udokumentowania obecności przetoki tchawiczo-przełykowej.21
  • Ezofagoskopia – może być pomocna w diagnostyce nabytych przetok tchawiczo-przełykowych.5

W przypadkach, gdy metody radiologiczne nie są w stanie wykazać przetoki, bronchoskopia z jednoczesnym podaniem błękitu metylenowego do przełyku może być wykonana jako badanie uzupełniające.18

Badania dodatkowe pod kątem wad współistniejących

Ponieważ w ponad 50% przypadków OA/TEF współistnieją inne wady wrodzone, konieczne jest przeprowadzenie dodatkowych badań:22

  • Echokardiografia – niezbędna do wykluczenia wad serca, które często towarzyszą OA/TEF, oraz określenia położenia łuku aorty, co ma znaczenie przy planowaniu operacji.2324
  • Badanie ultrasonograficzne nerek – wykonywane w celu wykluczenia wad układu moczowego.23
  • Badanie kręgosłupa, kończyn i odbytu – ze względu na częste współwystępowanie wad kręgosłupa, kończyn i odbytu w ramach zespołu VACTERL (wady kręgosłupa, wady odbytu, wady serca, zarośnięcie przełyku/przetoka tchawiczo-przełykowa, wady nerek i kończyn).2225

Klasyfikacja i typy wad

Opisano pięć głównych typów OA i TEF:

  • Typ A (8%): Izolowane zarośnięcie przełyku bez przetoki
  • Typ B (1%): Zarośnięcie przełyku z przetoką proksymalną
  • Typ C (84%): Zarośnięcie przełyku z przetoką dystalną (najczęstszy typ)
  • Typ D (3%): Zarośnięcie przełyku z przetoką proksymalną i dystalną
  • Typ E/H (4%): Przetoka typu H bez zarośnięcia przełyku26

Dokładne określenie typu wady ma kluczowe znaczenie dla zaplanowania odpowiedniego leczenia chirurgicznego.1

Trudności i wyzwania diagnostyczne

Diagnostyka OA/TEF może być wyzwaniem z kilku powodów:

  • Przetoki typu H (bez zarośnięcia przełyku) często są diagnozowane z opóźnieniem (tygodnie, miesiące, a nawet lata), ponieważ przełyk zachowuje ciągłość, a dziecko może się karmić.27
  • Rzadkie podtypy OA, takie jak długie górne uchyłki przełyku, mogą powodować trudności diagnostyczne, ponieważ zgłębnik może przejść znacznie dalej niż zazwyczaj.28
  • Diagnostyka nawrotowej przetoki po operacji naprawczej zarośnięcia przełyku jest trudna, ponieważ objawy (kaszel, dławienie się, nawracające infekcje układu oddechowego) są podobne do innych powikłań, takich jak refluks żołądkowo-przełykowy czy tchawica.29

Nawrotowe przetoki mogą być trudne do zdiagnozowania w rutynowym badaniu kontrastowym górnego odcinka przewodu pokarmowego, dlatego zaleca się stosowanie metody „prone pull-back”.30

Diagnostyka różnicowa

W diagnostyce różnicowej OA/TEF należy uwzględnić:

  • Refluks żołądkowo-przełykowy
  • Tracheomalacja (wiotkość tchawicy)
  • Wrodzone wady krtani
  • Zaburzenia połykania o innej etiologii
  • Nawracające aspiracyjne zapalenie płuc29

Ważne jest, aby pamiętać, że po operacji naprawczej OA/TEF, podobne objawy mogą być spowodowane różnymi powikłaniami, takimi jak nawrotowa przetoka, refluks żołądkowo-przełykowy czy tracheomalacja, dlatego konieczna jest dokładna diagnostyka w celu ustalenia przyczyny objawów.29

Znaczenie wczesnej i dokładnej diagnostyki

Wczesna i dokładna diagnostyka OA/TEF ma kluczowe znaczenie z kilku powodów:

  • Umożliwia szybkie podjęcie leczenia, co zmniejsza ryzyko powikłań, takich jak zachłystowe zapalenie płuc.
  • Pozwala na odpowiednie zaplanowanie operacji naprawczej.
  • Umożliwia wykrycie wad współistniejących, które mogą wpływać na leczenie i rokowanie.
  • Umożliwia odpowiednie przygotowanie i poradnictwo dla rodziny.82

Szybka diagnoza, odpowiednie postępowanie kliniczne i niezwłoczne skierowanie do ośrodka opieki trzeciego stopnia mają dramatyczny wpływ na poprawę przeżywalności tych niemowląt.13

Podsumowanie

Zarośnięcie przełyku i przetoka tchawiczo-przełykowa to rzadkie, ale poważne wady wrodzone, które wymagają szybkiej diagnostyki i leczenia. Chociaż diagnostyka prenatalna jest możliwa, większość przypadków jest diagnozowana po urodzeniu na podstawie objawów klinicznych i badań diagnostycznych, takich jak próba wprowadzenia zgłębnika i badania obrazowe. Ze względu na częste współwystępowanie innych wad wrodzonych, konieczne jest przeprowadzenie kompleksowej diagnostyki. Wczesna i dokładna diagnoza ma kluczowe znaczenie dla odpowiedniego zaplanowania leczenia i poprawy rokowania.1210

Dzięki postępom w diagnostyce, chirurgii i opiece około- i pooperacyjnej, przeżywalność dzieci z OA/TEF przekracza obecnie 90% w wyspecjalizowanych ośrodkach.10 Jednakże, pacjenci po operacji naprawczej OA/TEF wymagają długoterminowej obserwacji ze względu na możliwe powikłania, takie jak refluks żołądkowo-przełykowy, dysmotoryka przełyku, nawrotowe infekcje dróg oddechowych i zwężenie w miejscu zespolenia.2731

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Esophageal Atresia and Tracheoesophageal Fistula (EA/TEF) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/esophageal-atresia-and-tracheoesophageal-fistula-eatef
    Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare conditions that develop before birth. They often occur together and affect the development of the esophagus (food pipe), trachea (windpipe) or both. These conditions can be life-threatening and must be treated shortly after birth. […] Most babies with esophageal atresia and tracheoesophageal fistula are diagnosed shortly after birth when symptoms first appear. In these cases, clinicians perform a physical examination of the baby, get a medical history, then perform tests to determine how the child’s trachea and esophagus are affected. […] Early and thorough evaluation is important. It helps determine which type of EA/TEF your child has, which guides the best treatment approach for each baby’s unique condition. […] Most babies with EA/TEF are diagnosed after birth. However, as prenatal imaging has improved, some babies with EA/TEF are now being diagnosed before birth with high-resolution fetal ultrasound.
  • #2 Tracheoesophageal Fistula – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK535376/
    Tracheoesophageal fistulas (TEFs) are among major pediatric surgical centers’ most common congenital anomalies. […] Early diagnosis of TEF is crucial for effective management and improved outcomes. […] Diagnostic techniques often include prenatal ultrasonography, which may show polyhydramnios or an absent stomach bubble, and postnatal radiographic studies, such as a chest x-ray with a nasogastric tube inserted to confirm the presence of a fistula. […] These diagnostic measures help to identify the specific type of TEF, as variations can significantly impact the clinical approach and prognosis. […] Esophageal atresia is a related congenital malformation with a similar presentation to TEF and can occur with or without a fistula. […] Esophageal atresia may be diagnosed when an orogastric or nasogastric catheter cannot be passed further than 10 to 15 cm into the stomach.
  • #3 Esophageal Atresia: Causes, Symptoms, Diagnosis & Treatment
    https://my.clevelandclinic.org/health/diseases/21178-esophageal-atresia
    Esophageal atresia is a birth defect (congenital malformation) that affects the way your baby’s esophagus develops. The esophagus is the swallowing tube that connects their mouth to their stomach. Atresia means that a passageway in the body is missing or closed. In esophageal atresia, the esophagus is closed at the bottom where it’s supposed to connect to your baby’s stomach. This makes it impossible for your baby to feed normally. […] Up to 90% of babies with esophageal atresia also have another birth defect called a tracheoesophageal fistula. This means their esophagus connects to their trachea their windpipe instead of their stomach. This can cause them to inhale or choke on what they swallow. […] Only a minority of fetuses are diagnosed with EA before birth. Prenatal diagnosis is more likely when the fetus has other abnormalities that are detectable before birth, which may lead to further tests.
  • #4 Prenatal diagnosis of tracheo-oesophageal fistula/oesophageal atresia: is MRI helpful? | Pediatric Research
    https://www.nature.com/articles/s41390-024-03503-x
    Oesophageal atresia (OA) with or without tracheo-oesophageal fistula (TOF) affects 2.75 per 10,000 births within the UK. It is most frequently suspected on antenatal imaging when the stomach is absent or appears small. Studies have shown fetal magnetic resonance imaging (MRI) has greater diagnostic accuracy than ultrasound; however, there remains uncertainty over what size constitutes a small stomach and how frequently this correlates with a diagnosis of TOF/OA. […] Fetal MRI can accurately exclude TOF/OA but only has marginally improved positive predictive value over ultrasound. […] There are several features on imaging that raise the suspicion of TOF/OA. […] Fetal MRI has some improved diagnostic accuracy compared with antenatal ultrasound alone; however, it is only marginally better.
  • #5 Tracheoesophageal Fistula Workup: Imaging Studies, Procedures
    https://emedicine.medscape.com/article/186735-workup
    Prenatal ultrasonography may reveal polyhydramnios, absence of fluid-filled stomach, small abdomen, lower-than-expected fetal weight, and a distended esophageal pouch. […] Plain chest radiographs may reveal tracheal compression and deviation. Absence of a gastric bubble indicates esophageal atresia without a TEF or esophageal atresia with a proximal TEF. Chest radiography leads to the diagnosis of TEF in most cases of congenital TEF, and other investigations are rarely required. […] Insertion of a nasogastric tube may show coiling in the mediastinum of patients who have concomitant esophageal atresia. This finding is diagnostic of TEFs associated with esophageal atresia. […] Acquired TEFs can be diagnosed by instillation of contrast media into the esophagus or during direct visualization by flexible esophagoscopy or bronchoscopy. Either method can be useful, depending on the individual center’s expertise and experience. […] The diagnosis of a TEF secondary to malignancy is confirmed by contrast radiography, esophagoscopy, bronchoscopy, and clinical testing (methylene blue). […] Flexible esophagoscopy or flexible bronchoscopy may be useful in the diagnosis of acquired tracheoesophageal fistulas (TEFs).
  • #6 Radiologic diagnosis of tracheoesophageal fistula in children – Ayaz – Current Challenges in Thoracic Surgery
    https://ccts.amegroups.org/article/view/45911/html
    Fetal ultrasound after 20th gestational weeks can detect TEF and EA. Pouch sign, which is caused by dilatation of the blind-ending upper esophageal segment during fetal swallowing, is considered to be the most consistent indicator of EA on prenatal imaging with a reported positive predictive value as high as 100%. […] The primary and the most efficient imaging method for recurrent TEF is esophagogram with water-soluble contrast material given through the nasogastric catheter. Alternative imaging method is bronchoscopy; however, it is reserved for inconclusive cases due to invasive procedure. […] Recurrent TEF following anastomose leak due to initial EA repair was reported to be 45.8% to 68% in different studies. Recurrent TEF is difficult to diagnose and may be missed quite easily on routine contrast swallowed upper GI series, especially if a prone pull-back method is not used.
  • #7 Esophageal Atresia (EA) and Tracheoesophageal Fistula (TEF) Imaging and Diagnosis: Practice Essentials, Radiography, Computed Tomography
    https://emedicine.medscape.com/article/414368-overview
    Diagnosis of esophageal atresia with 3D CT is highly reliable, with 100% sensitivity and specificity. […] Fetal MRI has 100% sensitivity in prenatally diagnosing esophageal atresia in high-risk infants. […] The presence of a dilated blind-ending esophageal pouch on a sonogram is suggestive of EA. This pouch sign has been confirmed with direct visualization after 26 weeks’ gestation, but its onset has been suggested as early as the 22nd week. […] The pouch sign is the most reliable sonographic sign indicative of EA, and it is noted in the presence of EA with or without TEF.
  • #8 Prenatal diagnosis of tracheo-oesophageal fistula/oesophageal atresia: is MRI helpful? | Pediatric Research
    https://www.nature.com/articles/s41390-024-03503-x
    Absence of stomach bubble and presence of oesophageal dilatation combined on fetal MRI are more diagnostic of TOF/OA. […] Accurate and early diagnosis of TOF/OA is vital for perinatal counselling for families and appropriate planning for place of delivery and surgical management. […] This study has shown that fetal MRI has improved diagnostic accuracy over antenatal ultrasound alone, as seen in previous studies. […] Evaluation of individual MRI findings has shown that absent stomach, dilated oesophagus and inability to visualise the lower oesophagus are highly diagnostic of TOF/OA with specificity of 95%. […] The overall diagnostic accuracy for USS was 45.5% (15/33) and 51.7% (15/29) for fetal MRI. […] This study shows that fetal MRI is accurate at ruling out TOF/OA as all MRIs reported as normal were confirmed as normal after delivery, meaning there were no false negative results.
  • #9 Diagnostic accuracy of ultrasonography for the prenatal diagnosis of esophageal atresia and tracheoesophageal fistula
    https://www.spandidos-publications.com/10.3892/etm.2021.10075
    Ultrasound is recommended as a firstline requirement prior to MRI or amniotic fluid analysis, which have high diagnostic accuracy for esophageal atresia (EA). […] The results of the present study indicate that preoperative ultrasound has poor sensitivity but very good specificity for the diagnosis of EA/TOF. […] The use of ultrasound alone would result in a high rate of a falsepositive diagnoses. However, prenatal ultrasonography may be useful as a preliminary screening tool to exclude patients for suspected EA/TOF. […] A weak agreement was detected between the results of the prenatal and postnatal examinations (agreement, 53.2%; Cohen’s kappa=0.10, P=0.19). […] In further analysis using postnatal examination as the gold standard, prenatal ultrasonography was demonstrated to have a sensitivity of 29.4% (95% CI, 15.1-47.5%), a specificity of 80% (95% CI, 61.4-92.3%), a positive predictive value of 62.5% (95% CI, 35.4-82.8%) and a negative predictive value of 50% (95% CI, 35.2-64.8%).
  • #10 Oesophageal atresia and tracheo‐oesophageal fistula
    https://pmc.ncbi.nlm.nih.gov/articles/PMC2672849/
    Oesophageal atresia (OA) and tracheooesophageal fistula (TOF) has been a key domain of paediatric surgery since its early beginnings and continues to challenge specialists who care for these vulnerable children. […] With overall survival now exceeding 90% in dedicated centres, emphasis in the modern era has been on reducing morbidity and achieving improvements in the quality of life. […] An overview of current and emerging strategies in managing patients with OATOF is presented. […] The baby with OATOF classically presents with respiratory distress and feeding difficulties, choking, and frothing in the first few hours of life. […] Antenatal diagnosis may be suspected from maternal polyhydramnios and absence of the fetal stomach bubble. […] Karyotyping should be conducted if a prenatal diagnosis of OA is suspected because of the high reported incidence of trisomy 18 in these babies.
  • #11 Esophageal Atresia | Birth Defects | CDC
    https://www.cdc.gov/birth-defects/about/esophageal-atresia.html
    Esophageal atresia is a birth defect of the esophagus, the swallowing tube that connects the mouth to the stomach. […] Esophageal atresia is rarely diagnosed during pregnancy. Esophageal atresia is most commonly detected after birth when the baby first tries to feed and chokes or vomits. It can also be detected when a tube inserted in the baby’s nose or mouth cannot pass into the stomach. An x-ray can confirm that the tube stops in the upper esophagus.
  • #12 Oesophageal atresia and tracheo-oesophageal fistula in neonates | Safer Care Victoria
    https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/oesophageal-atresia-and-tracheo-oesophageal-fistula-in-neonates
    Oesophageal atresia (OA) involves an interruption to the lumen of the oesophagus, with the oesophagus ending in a blind pouch. OA is usually associated with a tracheo-oesophageal fistula (TOF), which is an abnormal connection between the oesophagus and the trachea. […] Early diagnosis is important to minimise pulmonary complications. […] Diagnosis may be suggested on antenatal ultrasound with polyhydramnios or the failure to visualise the fetal stomach. […] If the diagnosis is suggested antenatally or there are clinical signs at birth, an attempt should be made to pass a firm suction catheter or feeding tube (size 10F is adequate) to the stomach before the first feed. The inability to pass the tube into the stomach confirms the diagnosis of OA. […] A chest and abdominal x-ray taken with the catheter tip in the pouch will confirm the position of the upper oesophageal pouch and air within the bowel confirms the presence of a distal TOF.
  • #13 Esophageal Atresia and Tracheoesophageal Fistula | AAFP
    https://www.aafp.org/pubs/afp/issues/1999/0215/p910.html
    Esophageal atresia, with or without tracheoesophageal fistula, is a fairly common congenital disorder that family physicians should consider in the differential diagnosis of a neonate who develops feeding difficulties and respiratory distress in the first few days of life. […] Esophageal atresia with tracheoesophageal fistula occurs in one of 3,000 to 5,000 births. Family physicians who care for neonates should be aware of both the clinical presentation and management of neonates with this condition. […] It is also recognized that prompt diagnosis with appropriate clinical management and expeditious referral to a tertiary care center have had a dramatic impact on the improved survival of these infants. […] If esophageal atresia is suspected, a radiopaque 8 French (in preterm infants) or 10 French (in term infants) nasogastric or feeding tube should be passed through the nose to the stomach.
  • #14 Esophageal Atresia: Causes, Symptoms, Diagnosis & Treatment
    https://my.clevelandclinic.org/health/diseases/21178-esophageal-atresia
    If your healthcare provider suspects EA before your baby is born, they’ll be able to test for it immediately after. If they don’t suspect it before birth, they’ll likely notice the signs soon after. The procedure to check for EA is to attempt to pass a tube from your baby’s mouth or nose through their esophagus to their stomach. If this passageway is closed (atresia), the tube won’t reach their stomach. […] Your healthcare provider can confirm the diagnosis and determine the type of EA by taking X-rays. This will tell them the nature of the defect and whether your baby has fluid in their lungs or air in their stomach. After diagnosing esophageal atresia, your healthcare provider will check for other congenital malformations that commonly occur with it. Some of these may need treatment first, before your provider can treat EA.
  • #15 Tracheoesophageal Fistula and Esophageal Atresia | 5-Minute Pediatric Consult
    https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617262/all/Tracheoesophageal_Fistula_and_Esophageal_Atresia
    Esophageal atresia with tracheoesophageal fistula (EA-TEF) is a congenital condition of incomplete formation of the esophagus. In most cases, the atretic (blind-ending) esophagus has an aberrant fistula to the trachea (TEF). […] The prevalence of EA-TEF is 1 in 2,500 to 4,000 live births. This frequency appears to be consistent worldwide. […] Prenatal ultrasound may demonstrate features suggestive of EA-TEF such as absence of a stomach bubble, a dilated proximal pouch, or polyhydramnios. […] In patients without a prenatal suspicion of EA-TEF, the diagnosis is usually first entertained when a newborn has excessive secretions and repeated bouts of choking and spitting up during attempts at feeding. […] Failure of passage of a stiff 10F or 12F nasogastric tube at 10 to 12 cm is the major diagnostic test.
  • #16 Congenital tracheo-esophageal fistula | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/congenital-tracheo-esophageal-fistula?lang=us
    Congenital tracheo-esophageal fistula is a congenital pathological communication between the trachea and esophagus. […] Tracheo-esophageal fistula and esophageal atresia have a combined incidence of approximately 1 in 3500 live births. […] The diagnosis is usually made in the neonate, as they experience feeding difficulties and respiratory compromise due to repeated aspiration. […] In cases where esophageal atresia is present (i.e. all but H-type), attempts at passing a nasogastric tube will not be successful. […] The presence of air in the stomach and bowel in the setting of esophageal atresia implies that there is a distal fistula. […] Prior to surgical correction, bronchoscopy is frequently performed. […] Prognosis is often most affected by the presence of associated congenital chromosomal or cardiac anomalies.
  • #17 Tracheoesophageal Fistula – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK535376/
    The diagnosis of isolated TEF should be attempted with an upper gastrointestinal series using thickened water-soluble contrast material. […] All infants should have laryngoscopy and bronchoscopy before an open surgical repair of TEF or esophageal atresia. […] Managing TEF requires a well-coordinated interprofessional team to ensure complete care and optimal outcomes for the patient.
  • #18 Radiologic diagnosis of tracheoesophageal fistula in children – Ayaz – Current Challenges in Thoracic Surgery
    https://ccts.amegroups.org/article/view/45911/html
    The most useful diagnostic imaging method for TEF includes esophagogram with water-soluble contrast. The examination to demonstrate H-type TEF should begin with a single contrast esophagogram using pulsed digital fluoroscopy in the right lateral to slightly right anterior oblique position. […] If there is suspected fistula that is not seen with contrast swallow study, the nasogastric catheter should be placed and fluoroscopic visualization of injected contrast medium at various levels of esophagus, starting from just below the carina, with the patient in lateral or prone-oblique position. […] If radiological methods are unable to demonstrate fistula, bronchoscopy with simultaneous instillation of methylene blue into the esophagus can be performed as a complementary study. […] Temporal and contrast resolution of computed tomography (CT) has substantially developed over the years, and many authors have advocated the use of CT scan in preoperative evaluation of EA/TEF patients, as it is a quick non-invasive procedure that precisely delineates the anatomy of the TEF and the inter-pouch gap.
  • #19 Tracheoesophageal fistula after esophageal atresia repair: recurrent, missed or acquired – Boybeyi-Turer – Current Challenges in Thoracic Surgery
    https://ccts.amegroups.org/article/view/45919/html
    The diagnostic modalities include esophagogram and bronchoscopy. The routine esophagogram may miss recTEF very commonly. Therefore, prone pull-back method should be used to visualize a recTEF. The most appropriate way to visualize a recurrent fistula is to pass a tube down to esophagus and then to push the tube while giving contrast agent in prone position. Nevertheless, both diagnosis and precise localization of the fistula could not be possible even with prone pull-back esophagogram. Therefore, bronchoscopy should be performed to confirm the diagnosis and localize the fistula. […] Persistent respiratory symptoms after EA repair are mostly caused by a recTEF. However, some of them are actually more proximal fistula missed at the primary repair of EA. The pre-operative diagnosis of a proximal fistula is difficult, because the diagnosis of EA with distal fistula is usually made by a plain radiogram with nasogastric tube only or the amount of contrast is not suitable enough to fill the proximal fistula. Therefore, bronchoscopy is considered as the gold standard test in diagnosis of proximal fistula.
  • #20
    https://link.springer.com/article/10.1007/s00383-023-05519-6
    This study was performed to describe the current clinical practice and outcomes of type D esophageal atresia. […] We also herein discuss the diagnostic and treatment strategies for type D EA. […] Esophagography and tracheoscopy were the main methods to detect proximal TEF and diagnose type D EA. […] Tracheoscopy is an important examination method for confirmation of type D EA. […] Type D EA lacks specific clinical manifestations. Misdiagnosis as type C EA is the main cause of an unplanned reoperation. […] The diagnostic rate by esophagography in the present study was low, and the fistula positioning mainly depended on bronchoscopy to measure the distance from the fistula to the tracheal lung protrusion and from the fistula to the glottis. […] The overall treatment was satisfactory, and no recurrence after proximal fistula repair occurred in this study.
  • #21 Wiki – Tracheoesophageal fistula with esophageal atresia | Medical Billing and Coding Forum – AAPC
    https://www.aapc.com/discuss/threads/tracheoesophageal-fistula-with-esophageal-atresia.189808/?srsltid=AfmBOopDrHa0V5z518u9Dwwa8kdbIuBVHDoLmI-JdTGGFDIjkb3_zLDG
    Preoperative Diagnosis: Tracheoesophageal fistula with esophageal atresia […] Postoperative Diagnosis: Tracheoesophageal fistula with esophageal atresia […] The patient was then indicated for bronchoscopy and TEF repair. […] Findings: Tracheoesophageal fistula 1 cm proximal to carina on bronchoscopy. […] Esophageal atresia with distal tracheoesophageal fistula (type C) present. […] Ligation of tracheoesophageal fistula. […] Esophageal atresia with ends approximately 2 – 3 cm apart prior to dissection. […] Rigid bronchoscopy was performed prior to intubation to document presence of a tracheoesophageal fistula. […] Just deep and superior to the divided azygos, the tracheoesophageal fistula was identified. […] The fistula was circumferentially dissected. […] The fistula was then ligated sequentially with several interrupted 5-0 prolene sutures and divided with sharp scissors.
  • #22 Oesophageal atresia and tracheo‐oesophageal fistula
    https://pmc.ncbi.nlm.nih.gov/articles/PMC2672849/
    OA is linked with other clinical defects in more than 50% of babies, notably the VACTERL sequence (vertebral, anorectal, cardiac, tracheooesophageal, renal, and limb defects) and CHARGE associations (coloboma, heart defects, atresia choanae, retarded development, genital hypoplasia, ear abnormalities) with chromosomal anomalies that is, trisomy 18 and 21 and DiGeorge syndrome. […] The risk of recurrence in subsequent pregnancies of nonsyndromal OATOF is 1%. […] Operative repair of OATOF follows well established surgical techniques. […] A right posterolateral (extrapleural) thoracotomy is performed, the fistula ligated, and primary oesophageal anastomosis created. […] Almost 60 years after the first successful primary repair, another landmark in the management of OA was achieved by Tom Lobe and Steve Rothenberg from North America when they undertook the first minimally invasive thoracoscopic repair of OATOF.
  • #23 Oesophageal atresia and tracheo-oesophageal fistula in neonates | Safer Care Victoria
    https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/oesophageal-atresia-and-tracheo-oesophageal-fistula-in-neonates
    A H-type TOF often presents within the first few days of life with coughing or cyanosis with feeding. […] An echocardiography will be required to exclude cardiac anomalies and to establish the position of the aortic arch. […] A renal ultrasound should be performed if the neonate is anuric to exclude bilateral renal agenesis or a congenital anomaly.
  • #24 Oesophageal atresia and tracheo-oesophageal fistula | NHSGGC
    https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/oesophageal-atresia-and-tracheo-oesophageal-fistula/
    It is important that an ECHO is performed preoperatively to exclude major congenital cardiac anomalies and determine the position of the aortic arch. A right sided aortic arch may indicate a change to the normal right sided thoracotomy approach. The infant also requires examination for other associated congenital abnormalities (including heart murmur, anorectal malformation).
  • #25 Tracheoesophageal Fistula and Esophageal Atresia – Seattle Children’s
    https://www.seattlechildrens.org/conditions/tef-and-ea/
    To find TEF without EA, doctors sometimes use a test called an esophagram. First, your child swallows a liquid (gastrograffin or barium). The liquid helps to fill the spaces in the tube from the mouth to the stomach (esophagus). If there is a TEF, the liquid will be seen traveling from the esophagus into the windpipe via a connection of tissue. It will show on the X-ray screen. […] We will check all babies with TEF/EA for other possible related problems. These tests include: X-rays and ultrasound to check for problems with bones in the spine, arms or legs; Ultrasound of their heart (echocardiogram or echo); Ultrasound and possibly other tests of their kidneys; Exam to see how well the anus is formed. […] After surgery for TEF/EA or EA, your baby will likely need a machine to help them breathe (ventilator). It may be a few days to a week or more before your baby can breathe well on their own. […] About a week after your babys surgery, we will do an imaging study to check the esophagus repair for leaks. This is called an esophagram. If there is no leak, your baby may be able to start feeding by mouth.
  • #26 Esophageal Atresia (EA) and Tracheoesophageal Fistula (TEF) Imaging and Diagnosis: Practice Essentials, Radiography, Computed Tomography
    https://emedicine.medscape.com/article/414368-overview
    Esophageal atresia (EA) is a condition in which the proximal and distal portions of the esophagus do not communicate. EA with or without tracheoesophageal fistula (TEF) remains one of the most common gastrointestinal neonatal malformations (2.43 cases per 10,000 births). […] Five types of EA and TEF have been described. The most common abnormality is EA with a distal TEF (84%). Isolated atresia with no fistula is the next most common finding (8%), followed by H-type TEF (no atresia) (4%). EA with proximal and distal fistulas (3%) and EA with a proximal fistula (1%) are less common. […] The condition may occur alone, but additional congenital malformations such as VACTERL (vertebral defects, anal atresia, cardiac defects, TEF, renal anomalies, and limb abnormalities) and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities) are not uncommon.
  • #27 Oesophageal atresia and tracheo‐oesophageal fistula
    https://pmc.ncbi.nlm.nih.gov/articles/PMC2672849/
    Immediate surgical management involves formation of a gastrostomy for feeding and regular suctioning of the blind upper pouch to protect the airway. […] Htype fistulae are usually detected later in infancy or childhood as there is no discontinuity of the oesophagus, and the child is able to feed. […] Diagnosis can be confirmed by a dynamic prone video oesophagogram. […] Improved survival for patients with OA has led to a greater appreciation of long term morbidity. […] Children with OA tend to have considerable problems with their growth. […] Feeding problems are a major source of concern in early childhood. […] Respiratory problems are common in children with OA and TOF. […] Management includes tailored use of antibiotics, physiotherapy, and optimal management of gastrooesophageal reflux to minimise the risk of recurrent aspiration.
  • #28 Long proximal pouch oesophageal atresia with tracheo-oesophageal fistula, a diagnostic dilemma: case report | Annals of Pediatric Surgery | Full Text
    https://aops.springeropen.com/articles/10.1186/s43159-021-00151-2
    Oesophageal atresia is a congenital abnormality commonly encountered in neonates. Classification proposed by Gross is the most frequently used. It divides the oesophageal anomalies into five types. Type C proximal oesophageal atresia and distal tracheo-oesophageal fistula is the most common. […] We describe a neonate with long proximal pouch oesophageal atresia with distal tracheo-oesophageal fistula emphasizing the difficulty in arriving at the diagnosis. […] This rare subtype of long upper pouch oesophageal atresia poses a diagnostic dilemma that can result in delay in the diagnosis and management. This diagnosis should be suspected if the tip of the orogastric/feeding tube is seen to be far below the level of the carina. […] A rare subtype of type C oesophageal atresia was first reported in 1960. In this variant, the level of the blind upper oesophageal pouch is lower than usual and leads to a diagnostic dilemma.
  • #29 Tracheoesophageal fistula after esophageal atresia repair: recurrent, missed or acquired – Boybeyi-Turer – Current Challenges in Thoracic Surgery
    https://ccts.amegroups.org/article/view/45919/html
    The main complications of EA repair are classified as early and late complications. Anastomotic leak, stricture and recurrent TEF (recTEF) are the early complications, whereas gastroesophageal reflux, esophageal dysmotility, tracheomalacia and respiratory disorders are the late ones. TEFs seen after EA repair are the most challenging complication for both patient and the surgeon. The fistulas between esophagus and airway can be congenital, recurrent, missed, or acquired. Not only the diagnosis of all these fistulas is difficult, but also the management is still challenging since secondary surgeries causes increased risk for secondary recurrences, increased morbidity and even mortality. […] The diagnosis of recTEF is also challenging. The patients with EA very commonly experience several respiratory symptoms such as coughing, chocking or recurrent respiratory tract infections. Since all of the patients either with gastroesophageal reflux, tracheomalacia or recTEF experience similar symptoms, it is difficult to distinguish which of the EA-related complications is the cause of these symptoms. Therefore, all patients having coughing, chocking or recurrent respiratory tract infections after EA repair should be investigated for the presence of recTEF.
  • #30 Radiologic diagnosis of tracheoesophageal fistula in children – Ayaz – Current Challenges in Thoracic Surgery
    https://ccts.amegroups.org/article/view/45911/html
    Fetal ultrasound after 20th gestational weeks can detect TEF and EA. Pouch sign, which is caused by dilatation of the blind-ending upper esophageal segment during fetal swallowing, is considered to be the most consistent indicator of EA on prenatal imaging with a reported positive predictive value as high as 100%. […] The primary and the most efficient imaging method for recurrent TEF is esophagogram with water-soluble contrast material given through the nasogastric catheter. Alternative imaging method is bronchoscopy; however, it is reserved for inconclusive cases due to invasive procedure. […] Recurrent TEF following anastomose leak due to initial EA repair was reported to be 45.8% to 68% in different studies. Recurrent TEF is difficult to diagnose and may be missed quite easily on routine contrast swallowed upper GI series, especially if a prone pull-back method is not used.
  • #31 Oesophageal Atresia | Doctor
    https://patient.info/doctor/oesophageal-atresia
    Oesophageal atresia TOF should be considered whenever a baby develops feeding and respiratory difficulties in the first few days of life. […] CXR: this can show the heart size and shadow, any vertebral and rib abnormalities and can be used to assess the lung fields. […] OA is usually surgically corrected in the first few days of life, and survival rates currently exceed 90% due to advancements in surgical techniques and neonatal intensive care. […] Pre-operative bronchoscopy can be helpful in identifying and locating fistulae. […] After repair of oesophageal atresia in infancy, gastro-oesophageal reflux, oesophageal dysmotility and respiratory problems are common and significant oesophageal morbidity extends into adulthood. […] Overall survival now exceeds 90% in dedicated centres.