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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Pediatric Surgery

The "Complete Picture": Screening for Associated Conditions

At a Glance

Babies born with esophageal atresia (EA) are routinely screened for associated developmental differences, such as VACTERL association and CHARGE syndrome. Mandatory pre-operative tests, including echocardiograms and ultrasounds, help the medical team safely plan the surgical repair.

When a baby is born with Esophageal Atresia (EA) or Tracheoesophageal Fistula (TEF), doctors immediately look for other developmental changes. This is because the “blueprint” for the esophagus is shared with several other organ systems that develop at the exact same time [1][2].

Finding other issues does not mean your baby cannot be treated; rather, it helps the medical team create a “complete picture” to ensure the safest possible surgery and recovery [3][4].

The VACTERL Association

The most common group of associated findings is known by the acronym VACTERL. This is not a single disease, but a “non-random” grouping of features. A baby is typically diagnosed with VACTERL association if they have at least three of the following [4][5]:

  • V - Vertebral: Differences in the bones of the spine (vertebrae) [4].
  • A - Anorectal: An “imperforate anus” or other malformations where the bottom of the digestive tract did not form completely [4].
  • C - Cardiac: Heart defects, such as a hole in the heart or a “right-sided” aortic arch [4][6].
  • TE - Tracheo-Esophageal: This refers to the EA/TEF diagnosis itself [4].
  • R - Renal: Issues with the kidneys or the tubes that carry urine (ureters) [4][3].
  • L - Limb: Differences in the bones of the arms or hands, such as an underdeveloped thumb [4].

CHARGE Syndrome

Occasionally, EA/TEF is part of another condition called CHARGE syndrome. This is a genetic condition usually caused by a change in the CHD7 gene [7][8]. While it shares some features with VACTERL (like heart and kidney issues), CHARGE also involves unique traits such as “coloboma” (a gap in the eye tissue), ear abnormalities, or hearing loss [7][9]. Genetic testing is often used to confirm this diagnosis [10][11].

Your “Completeness Checklist”

Before your baby goes into surgery for EA/TEF, the NICU team must perform several “baseline” screenings. These tests are mandatory because they tell the surgeon exactly how to proceed safely [3][12].

1. Echocardiogram (Heart Ultrasound)

This is the most critical pre-operative test. The surgeon needs to know two main things:

  • Heart Defects: Major heart issues can impact how your baby handles anesthesia or may require stabilization before the esophageal surgery [3][13].
  • The Aortic Arch: In most people, the main artery from the heart (the aorta) curves to the left. In some babies with EA, it curves to the right. If your baby has a right-sided arch, the surgeon may need to change the side of the incision to reach the esophagus safely [14].

2. Renal (Kidney) Ultrasound

This painless ultrasound checks that both kidneys are present, in the right place, and draining correctly [3][15].

3. Physical Exam and X-rays

The medical team will carefully examine your baby’s bottom (to check for an anorectal malformation), their limbs (checking thumbs and forearms), and use X-rays to look at the shape of the spinal bones [4][12].

4. Genetic Consultation (Optional)

Depending on what the other tests show, the team may recommend a visit from a genetics specialist to see if further blood tests are needed to look for conditions like CHARGE syndrome [16][17].

While this list may seem long, these tests are standard “safety checks” that ensure your baby’s care team has all the information they need before the repair begins [18][15].

Common questions in this guide

Why do babies with esophageal atresia need so many tests before surgery?
Babies with esophageal atresia often have other developmental changes because the esophagus shares a developmental blueprint with other organs. Doctors perform tests like echocardiograms to create a complete picture, ensuring the safest possible surgery.
What is VACTERL association?
VACTERL is an acronym for a non-random group of developmental differences often found together in newborns. It stands for Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb variations. A baby is typically diagnosed if they have at least three of these features.
How is CHARGE syndrome different from VACTERL?
While CHARGE syndrome shares some features with VACTERL, like heart and kidney issues, it is a specific genetic condition often caused by a gene change. It includes unique traits such as a gap in the eye tissue (coloboma), ear abnormalities, and hearing loss.
Why is an echocardiogram critical before esophageal atresia surgery?
An echocardiogram checks for major heart issues that could affect anesthesia and identifies the location of the aortic arch. If the baby has a right-sided aortic arch, the surgeon may need to change the side of the incision to reach the esophagus safely.
What does a renal ultrasound check for in newborns with EA/TEF?
A painless renal ultrasound is used to confirm that both of the baby's kidneys are present. It also ensures the kidneys are in the correct location and draining properly.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Has my baby had an echocardiogram yet, and if so, where is the aortic arch located (right or left side)?
  2. 2.Were any vertebral or limb abnormalities seen on the initial X-rays?
  3. 3.Has the surgical team checked for an anorectal malformation yet?
  4. 4.Did the renal ultrasound show any issues with the kidneys or bladder?
  5. 5.Given the findings, is my baby considered to have VACTERL association?
  6. 6.Is there any reason to suspect CHARGE syndrome based on my baby's heart or ear anatomy?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    Mysterious Late Presentation of Congenital H-type Tracheoesophageal Fistula in Teenage - Teamwork and Operative Planning.

    Kotcharlakota VV, Shoor G, Singh V, et al.

    Journal of Indian Association of Pediatric Surgeons 2023; (28(4)):336-338 doi:10.4103/jiaps.jiaps_63_23.

    PMID: 37635888
  2. 2

    Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis.

    Edwards NA, Rankin SA, Kashyap A, et al.

    Developmental cell 2025; (60(18)):2487-2502.e4 doi:10.1016/j.devcel.2025.04.026.

    PMID: 40412385
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    [Congenital Esophageal Atresia].

    Suzuki M, Kuwano H

    Kyobu geka. The Japanese journal of thoracic surgery 2015; (68(8)):711-7.

    PMID: 26197921
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    HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

    Kause F, Zhang R, Ludwig M, et al.

    Birth defects research 2019; (111(10)):591-597 doi:10.1002/bdr2.1493.

    PMID: 30887706
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    Maternal risk associated with the VACTERL association: A case-control study.

    van de Putte R, de Walle HEK, van Hooijdonk KJM, et al.

    Birth defects research 2020; (112(18)):1495-1504 doi:10.1002/bdr2.1773.

    PMID: 33179873
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    Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis.

    Puri K, Morris SA, Mery CM, et al.

    Surgery 2018; (163(4)):847-853 doi:10.1016/j.surg.2017.09.010.

    PMID: 29325785
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    Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme.

    Feng W, Kawauchi D, Körkel-Qu H, et al.

    Nature communications 2017; (8()):14758 doi:10.1038/ncomms14758.

    PMID: 28317875
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    CHARGEd with neural crest defects.

    Pauli S, Bajpai R, Borchers A

    American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):478-486 doi:10.1002/ajmg.c.31584.

    PMID: 29082625
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    Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

    Chen X, Yan K, Gao Y, et al.

    BMC medical genetics 2019; (20(1)):93 doi:10.1186/s12881-019-0813-z.

    PMID: 31146700
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    Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.

    Xu YP, Shi LP, Zhu J

    BMC pediatrics 2018; (18(1)):203 doi:10.1186/s12887-018-1181-0.

    PMID: 29945602
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    Phenotypic spectrum of neonatal CHARGE syndrome.

    Sánchez N, Hernández M, Cruz JP, Mellado C

    Revista chilena de pediatria 2019; (90(5)):533-538 doi:10.32641/rchped.v90i5.1080.

    PMID: 31859737
  12. 12

    An overview of esophageal atresia and tracheoesophageal fistula.

    McGowan NA, Grosel J

    JAAPA : official journal of the American Academy of Physician Assistants 2022; (35(6)):34-37 doi:10.1097/01.JAA.0000830180.79745.b9.

    PMID: 35617475
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    NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

    Mark PR

    American journal of medical genetics. Part A 2022; (188(9)):2834-2849 doi:10.1002/ajmg.a.62764.

    PMID: 35484986
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    Management of neonates with right-sided aortic arch and esophageal atresia: International survey on IPEG AND ESPES members´ experience.

    Aguilera-Pujabet M, Gahete JAM, Guillén G, et al.

    Journal of pediatric surgery 2018; (53(10)):1923-1927 doi:10.1016/j.jpedsurg.2017.11.051.

    PMID: 29241961
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    Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup.

    Bogs T, Zwink N, Chonitzki V, et al.

    European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2018; (28(2)):176-182 doi:10.1055/s-0036-1597946.

    PMID: 28061520
  16. 16

    Phenotypic spectrum of typical CHARGE syndrome in a Chinese male neonate: a case report.

    Sun Y, Sun J, Li N, et al.

    Translational pediatrics 2020; (9(2)):180-186 doi:10.21037/tp.2020.03.09.

    PMID: 32477919
  17. 17

    Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.

    Gao F, Li S, Hu L, et al.

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    Outcomes of Esophageal Atresia at University Tertiary Hospital of Kigali, Rwanda.

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This page provides educational information about screening for conditions associated with esophageal atresia. It does not replace professional medical advice from your baby's neonatologist, geneticist, or pediatric surgeon.

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