Diseases of the Esophagus (2013) 26, 354355

DOI: 10.1111/dote.12051

Original article

Epidemiology of esophageal atresia

R. Sfeir,1 L. Michaud,1 J. Salleron,2 F. Gottrand1
Reference center for congenital esophageal abnormalities (CRACMO) and 2Medical Statistics Department,
University of Lille 2, Lille, France
1

SUMMARY. Esophageal atresia (EA) is a rare congenital malformation consisting of a lack of continuity
between the upper and lower esophageal pouches, frequently associated with tracheoesophageal fistula. The
prevalence of such rare abnormalities is established by global birth surveillance programs over the world.
EUROCAT is a European program covering 1.7 million births since its creation. The prevalence of EA in Europe
seems stable over decades. The National Birth Defects Prevention Network in the USA also shows a stable
prevalence with a wide range between states or regions. In France, with the implementation of the national rare
diseases plan, a reference center for congenital abnormalities of the esophagus was created in 2006 and a national
registry for EA began patient inclusion in 2008. This has resulted in the establishment of the national live birth
prevalence for EA, prenatal diagnosis rates, and clinical characteristics of EA patients, early survival, and early
morbidity. Prevalence rates seem stable all over the world since many decades. Continuous surveillance of
congenital abnormalities and specific registries are useful for epidemiologic data but also for public health
authorities for helping families of rare diseases patients.
KEY WORDS: epidemiology, esophageal atresia, prenatal diagnosis, prevalence.

Esophageal atresia (EA) is a congenital malformation responsible for an esophageal disruption with
or without tracheoesophageal fistula (TEF). It occurs
in 1/2500 to 1/4000 live births. Several regional,
national, or European registries have allowed an epidemiological monitoring of the majority of congenital malformations including EA during the last
several years. Prevalence in the era of prenatal diagnosis may change in some countries.
Despite differences in methodology, time, and
geography, it seems that the overall prevalence of
EA has remained quite stable over the time in the
past 34 decades world wide, varying from 2.12 per
10 000 live births from 1980 to 1995 (27 registries)
to 2.08/10 000 from 1995 to 2009 (43 registries) according to EUROCAT and Swedish studies.13 However, regional variations of EA prevalence have
been recently demonstrated in Europe within the
EUROCAT network, a European organization
Address correspondence to: Dr Rony Sfeir, MD, Department of
Surgery, Jeanne de Flandre Hospital, 1 ave Avine, 59037 cedex
Lille, France. Email: rony.sfeir@chru-lille.fr
Authors contribution: Rony SFEIR: 70%; Laurent Michaud:
5%; Frederic Gottrand: 20%; Julia Salleron: 5%.
354

encompassing regional registries that carry out

population-based studies. A recent study demonstrated that the prevalence of EA varied from 1.27 to
4.55 per 10 000 according to different European
regions, while the overall prevalence of EA was 2.43
per 10 000 births, which confirmed the stability of EA
prevalence over time. The rate of medical termination
of pregnancy in fetuses carrying associated malformations in general was 7.8%, but when EA was suspected,
this rate increased to 27%.4
The National Birth Defects Prevention Network
(NBDPN) was created in 1997 by the Center for
Disease Control and Prevention (CDC) in the USA.
The data originates from 45 programs of birth monitoring in 30 states. The NBDP Study is an observational study, population based and case controlled, of
women having become pregnant in the USA. Ten
large cities are included in this network, and the
prevalence of EA was calculated from the data of 32
registries from 2003 to 2007. As in Europe, the prevalence was variable according to the regions, from 0.96
to 4.53 per 10 000 births.5
The French national EA registry was created in 2008
by the reference center for congenital abnormalities of

2013 Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus

Epidemiology of esophageal atresia

355

Table 1 Population characteristics and comparison between type I (pure esophageal atresia [EA]) and type III EA (with distal tracheoesophageal fistula [TEF]). Data from the French national registry and EUROCAT4 (where available)
Pure EA (n = 31)
Polyhydramnios %
Prenatal diagnosis %
Gestational age
weeks (range)
Birthweight
grams (range)
% Transfer before birth to a tertiary
pediatric center
% with associated anomalies
% diagnosis within the first 24 hours
% on full oral feeding at first discharge
% survival to discharge
Length of first hospitalization
Days (range)
Sex ratio M/F

86.5
86
36 (3039)
2158 (5503025)
58.5
58
100
54
84
119 (13249)
1.3

EATEF (n = 268)
50
12
38 (2843)

Total (n = 307)

EUROCAT (n = 925)

0.0007
<0.0001
<0.0001

53.5
20
38 (2743)

NA
34
NA (38% < 37 weeks)

2561 (5504340)

NA

2611 (15003590)

0.0006
<0.0001

12
52.5
95
90
96
21 (2393)

0.56
0.24
<0.0001
0.017
<0.0001

1.3

0.9

17
53
93.5
87
95
22 (2393)
1.3

NA
55
83
NA
86.9
NA
1.35

Survival at 1 week in EUROCAT; NA, not available.

the esophagus. It differs from other national registries

because it is specific for EA. Its goal is to evaluate the
prevalence of this congenital malformation in the children born alive in France and their evolution during
infancy. It also collects prenatal data, neonatal treatment and early outcome, as well as follow-up for the
first year of life. It is based on a national network of all
38 French centers performing neonatal surgery. The
prevalence of EA in 2008 and 2009 in France was 1.97
per 10 000 live births (Table 1). Associated malformations were present in 53% of the cases and survival was
95%. Mortality was higher in premature and small
birthweight infants but not among patients carrying
associated malformations. EA with TEF was the most
frequent type representing 87% of the cases. Survival
in this group was not significantly different from
pure EA. Prenatal diagnosis was made in 30% of
EATEF infants, but was 100% in cases of pure EA.
The length of hospitalization and full oral feeding at
first discharge were used to evaluate initial morbidity
of EA.
Although not extensively studied, environmental
factors do not seem to influence total prevalence of
EA, as opposed to what seems to exist in other malformations such as those involving male genitalia.6
Maternal diabetes (pre-existent diabetes rather than
gestational) has been recognized to increase the frequency of EA. The adjusted risk of EA was 70%
higher among infants of women with diabetes than
among women without diabetes (odds ratio, 1.7; 95%
confidence interval, 1.02.9).7 The WHO predicts an
increase in the prevalence of type II diabetes in developing countries but also in developed countries. In
vitro fertilization techniques increase the risk of EA
like several other malformations.8,9 Other risk factors
have been suspected, such as maternal intoxications
or exposures to alcohol, tobacco smoking, drugs,
toxic molecules, or maternal infectious diseases.
However, no study has yet formally proved the causality of these factors.10

CONCLUSION
Continuous population monitoring on a national or
regional scale makes it possible to calculate the prevalence and to detect any variation over time and assess
the impact of antenatal diagnosis. This is useful for
health authorities to optimize care, especially in the
area of rare diseases.
Acknowledgment
The authors acknowledge the collaborators of the
entire French network who make this registry possible by their total and voluntary participation.
References
1 European surveillance of congenital anomalies: EUROCAT.
[Cited 15 Dec 2012.] Available from URL: http://www.eurocatnetwork.eu/accessprevalencedata/prevalencetables
2 Boyd P A, Haeusler M, Barisic I, Loane M, Garne E, Dolk H.
The EUROCAT network organization and processes. Birth
Defects Res A 2011; 91 (Suppl 1): S215.
3 Oddsberg J, Lu Y, Lagergren J. Aspects of esophageal atresia
in a population-based setting: incidence, mortality, and cancer
risk. Pediatr Surg Int 2012; 28: 24957.
4 Pedersen R N, Calzolari E, Husby S et al. Oesophageal atresia:
prevalence, prenatal diagnosis and associated anomalies in 23
European regions. Arch Dis Child 2012; 97: 22732.
5 NBDP. Selected birth defects data from population-based birth
defects surveillance programs in the United States, 20032007.
Birth Defects Res A 2010; 88: 1062174.
6 Gaspari L, Paris F, Jandel C et al. Prenatal environmental
risk factors for genital malformations in a population of 1442
French male newborns: a nested case-control study. Hum
Reprod 2011; 26: 315562.
7 Oddsberg J, Lu Y, Lagergren J. Maternal diabetes and risk of
esophageal atresia. J Pediatr Surg 2010; 45: 20048.
8 Klln B, Finnstrm O, Lindam A et al. Congenital malformations in infants born after in vitro fertilization in Sweden. Birth
Defects Res A 2010; 88: 13743.
9 de La Rochebrochard E, de Mouzon J, Thepot F et al. French
National IVF Registry (FIVNAT) Association of fathers over
40 and increased failure to conceive: the lessons of in vitro
fertilization in France. Fertil Steril 2006; 85: 14204.
10 Felix J F, de Jong E M, Torfs C P et al. Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts.
Birth Defects Res A 2009; 85: 74754.

2013 Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus

Copyright of Diseases of the Esophagus is the property of Wiley-Blackwell and its content may not be copied or
emailed to multiple sites or posted to a listserv without the copyright holder's express written permission.
However, users may print, download, or email articles for individual use.