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Gastroschisis International epidemiology and public health perspectives.

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American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 148C:162– 179 (2008)
A R T I C L E
Gastroschisis: International Epidemiology and Public
Health Perspectives
EDUARDO E. CASTILLA,* PIERPAOLO MASTROIACOVO, AND IÊDA M. ORIOLI
Gastroschisis offers the intriguing epidemiological situation of a pandemic, strongly associated with very low
maternal age. Identifying gastroschisis, and distinguishing it from the other abdominal wall defects, is
theoretically easy but difficult in practice. The baseline birth prevalence of gastroschisis before the pandemic was
approximately 1 in 50,000 births and has increased since between 10- and 20-fold. In many populations
worldwide, it is still increasing. Such increasing prevalence and the association with very low maternal age are well
proven, but the interaction between these two findings remains unknown. Geographic gradients (decreasing
prevalence from North to South) are clear in Continental Europe and suggestive in Britain and Ireland.
Gastroschisis seems more frequent in Caucasians compared to African Blacks and Orientals, and in Northern
compared to Southern Europeans. These observations indicate the need for investigating gene–environment
interactions. Since the global human situation is marked by inequalities among as well as within countries, the
medical care and public health impact of gastroschisis varies widely among regions and social strata. The postnatal
benefits of prenatal diagnosis of gastroschisis include family awareness; adequate planning of delivery with
alerted obstetrical, pediatric, and surgical staff; optimal risk categorization, and personalized protocol for action.
The increasing prevalence of gastroschisis combined with improved medical techniques to reduce morbidity and
mortality are also increasing the burden and costs of this anomaly on health systems. ß 2008 Wiley-Liss, Inc.
KEY WORDS: gastroschisis; omphalocele; body wall defects; birth prevalence; increasing trend; low maternal age; teenage; pandemic
How to cite this article: Castilla EE, Mastroiacovo P, Orioli IM. 2008. Gastroschisis: International
epidemiology and public health perspectives. Am J Med Genet Part C Semin Med Genet 148C:162–179.
INTRODUCTION
For the last three decades, gastroschisis has offered the intriguing epidemiological situation of a pandemic [Last,
1995], strongly associated with very low
maternal age. Nevertheless, the working
hypotheses advanced until now have
been scarce, and none have yet been
substantiated with convincing data and
replicated. Therefore, in the absence of a
working hypothesis to test, many publications are mainly ‘‘fishing expeditions,’’ typically adding very little to the
knowledge of the etiology and pathogenesis of gastroschisis.
The present state of affairs for
gastroschisis is comparable to that of
Down syndrome in the 1930s. At
that time, P.J. Waardenburg first [Allen,
Eduardo E. Castilla, Director of ECLAMC; Scientist at the National Research Councils of
Argentina (CONICET), and Brazil (CNPq); Chief of the Laboratory of Congenital Malformations at
the Instituto Oswaldo Cruz, Rio de Janeiro, Brazil; Full Professor of Medical Genetics at the
Instituto Universitario CEMIC, Buenos Aires, Argentina.
Pierpaolo Mastroiacovo, Professor of Pediatrics, Director of the Centre of the International
Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. He is a pediatrician, and
his main interests are clinical genetics, birth defect epidemiology, and evidence based pediatrics.
Iêda M. Orioli, ECLAMC Deputy Director; Full Professor of Genetics, Federal University of Rio de
Janeiro, Brazil.
Grant sponsor: CNPq/MS/DECIT, Brazil; Grant numbers: 40.3444/2004-7, 40.1467/2004-0;
Grant sponsor: CNPq, Brazil; Grant numbers: 472086/2004–9, 30.8885/2006-6, 501279/20032; Grant sponsor: FAPERJ, Brazil; Grant numbers: E-26/152.831/2006, E-26/152831; Grant
sponsor: Agencia Nacional de Promoción Cientı́fica y Tecnológica (ANPCyT), Argentina; Grant
number: PICTO-CRUP 2005 # 31101; Grant sponsor: Consejo Nacional de Investigaciones
Cientı́ficas y Técnicas (CONICET), Argentina; Grant sponsor: Centre of the Centers for Disease
Control and Prevention, National Center on Birth Defects and Developmental Disabilities; Grant
number: U50/CCU207141; Grant sponsor: Edital MCT-CNPq/MS-SCTIE-DECIT—N8 21/2006,
Genética Clı́nica; Grant number: 40.8863/2006-4; Grant sponsor: Edital MCT-FAPERJ/MS-SCTIEDECIT, Brazil; Grant number: E-26/152.831/2006.
*Correspondence to: Eduardo E. Castilla, ECLAMC/GENETICA/FIOCRUZ, Av. Brasil 4365, Pav.
26, sala 617, 21045-900 Rio de Janeiro, Brazil. E-mail: castilla@centroin.com.br
DOI 10.1002/ajmg.c.30181
ß 2008 Wiley-Liss, Inc.
1974], and L.S. Penrose [Penrose, 1954]
next, suggested the possibility of an
underlying chromosome aneuploidy in
Down syndrome, given that chromosome non-disjunction in Drosophila was
known to be associated with advanced
age (as was already recognized for Down
syndrome in humans). However, at
the time the chromosome hypothesis
was just one among many under consideration. Its confirmation came
many years later with the report by
Lejeune et al. [1959] of a ‘‘petit te´locentrique surnume´raire’’ chromosome found
in nine cases of Down syndrome.
This review summarizes the available essential data in the literature,
addressing etiologic, pathogenic, clinical, and epidemiological issues relevant
to the understanding of gastroschisis.
GASTROSCHISIS AMONG
BODY WALL DEFECTS
Identifying gastroschisis and separating
it from the other abdominal wall
defects is theoretically easy but difficult
practically.
ARTICLE
Gastroschisis is a well-defined and
precisely delineated congenital anomaly
of the abdominal wall. Nevertheless, in
practical terms it is frequently confused
with other body wall defects. This
confusion affects the morphological
homogeneity of most, if not all, series
of cases reported until now. Differences
in definition and delineation hamper any
attempt to compare published prevalence rate, time trends, and reported
associations with maternal age or other
potential risk factors.
The differential diagnosis of gastroschisis includes the other types of defect
(hole, discontinuity) of the anterior
body wall. Among 2,633 newborn
infants with an abdominal wall defect
born between 1982 and 2006 in South
America (ECLAMC, unpublished data),
the type of defects were distributed
as follows: 2.7% ill-defined, 49.6%
omphalocele, 35.2% gastroschisis, 5.2%
complete or extended abdominal wall
defect, 4.0% infraumbilical or caudal
celosomias (excluding bladder/cloacal
exstrophy), 1.6% supraumbilical or
cephalic celosomias (including ectopia
cordis), and 1.8% with other types. A
total of 1,128 cases (42.8%) had additional unrelated anomalies, but only 102
(11.0%) among the cases of gastroschisis.
This classification of body wall defects in
ECLAMC was possible because the
program receives verbatim descriptions
from voluntarily participating pediatricians, who follow specific descriptive
norms given in the program’s Procedures Manual [Castilla and Orioli,
2004] and summarized in six characteristics of the abdominal wall defect
that must be specified: (1) relationship
with the umbilical cord: periumbilical,
paraumbilical, supraumbilical, infraumbilical, other (describe); (2) side: right,
left, bilateral, midline; (3) extension of
the defect (hole) in cm; (4) covering
membranes: yes or not; (5) eviscerated
organs; (6) presence of associated independent malformations. The simple
enunciation of ‘‘gastroschisis’’ is not
accepted. Incomplete descriptions are
returned to the source for completion.
Incomplete cases remain coded as
abdominal wall defect of unspecified
type.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
Because knowledge of body wall
defects has changed in the past 50 years,
birth defect registries that began operations in the 1960s or earlier would have
heterogeneous data for many defect
categories. Through the decades,
nomenclature, clinical criteria, coding,
and classification have changed substantially. Consequently, some registries
recently reviewed their coding, based,
when available, on the original reporting
forms [Källén and Winberg, 1968;
Kazaura et al., 2004; Williams et al.,
2005b]. The ECLAMC data for body
wall defects were reviewed by one of
the authors (EEC) in the mid 1990s.
Up through version 9, the International Classification of Diseases (ICD)
lumped the two most common body
wall defect types (omphalocele and
gastroschisis) under one code (7567).
Only recently, in version 10, these
two main defects have separate codes:
Q79.2 for omphalocele, Q79.3 for
gastroschisis. Before version 10, only
the extension of the ICD to a fifth digit,
as in the modification by the British
Up through version 9, the
International Classification of
Diseases (ICD) lumped the two
most common body wall defect
types (omphalocele and
gastroschisis) under one code
(7567). Only recently, in
version 10, these two main
defects have separate codes:
Q79.2 for omphalocele, Q79.3
for gastroschisis.
Paediatric Association, allowed for the
individualized consideration of omphalocele (Code 75670) and gastroschisis
(Code 75671). Some investigations used
the less known code 54.71 from the
ICD-9-CM (ICD-9-Clinical Modification for Surgical Procedures Code) to
identify gastroschisis repair in hospital
discharge records [Williams et al., 2005a;
Arnold et al., 2007a].
163
As established by use, gastroschisis is an
inaccurate term, seriously hampering the
validity of reported observations.
The Clearinghouse [2005] (International Clearinghouse for Birth
Defects Research and Surveillance)
defines gastroschisis as: ‘‘a congenital
malformation characterized by visceral
herniation through a right side abdominal wall defect to an intact umbilical cord
and not covered by a membrane. The
definition excludes aplasia or hypoplasia
of abdominal muscles, skin-covered
umbilical hernia, and omphalocele (herniation of abdominal contents through
the umbilical insertion and covered by a
membrane which may or may not be
intact).’’ This definition agrees with
those used by other institutions such as
EUROCAT [Calzolari et al., 1995] and
ECLAMC [Rittler et al., 2007], as well
as with working definitions used in other
studies [Rickett, 1979; Stoll et al., 2001].
However, many times precise definitions constitute a good intention and
do not translate into a real characterization of the data. Coding at registry
headquarters comes too late in the data
handling process, since the actual use of
the term gastroschisis at the reporting
centers, the maternity hospitals, is frequently different from the definitions
applied at the central level.
With the increasing use of prenatal
ultrasonography since the early 1980s,
more or less concurrently with the
awareness of the increasing frequency
of gastroschisis, obstetricians, and pediatricians learned about gastroschisis,
including its definition and nomenclature, mainly from ultrasonographers.
Well-known books for ultrasonography
of congenital anomalies do not define
gastroschisis [Bianchi et al., 2000], or
define it too succinctly: ‘‘intrauterine
evisceration of fetal intestine through a
paraumbilical wall defect’’ [Sanders,
2002]. This results in a generalized
misconception that congenital abdominal evisceration is a proxy for gastroschisis. Giant omphaloceles can be
prenatally misdiagnosed as gastroschisis
if the ultrasonographer does not search
carefully for a faint covering membrane. Even when the prenatal ruptured
164
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
membrane of an omphalocele is believed
to be rare [Bianchi et al., 2000; Chen,
2007], the abdominal contents will also
be floating in the amniotic cavity, as in
gastroschisis. Finally, in 15% of the cases
the sac breaks during or immediately
after delivery [Densler, 1982; Wilson
and Johnson, 2004], and for the examining surgeon or pediatricians they
become broken omphaloceles, which
can also be easily misdiagnosed as gastroschisis [Aizenfisz et al., 2006]. Obviously, these perinatal complications are
expected to occur more frequently in
low resource areas of the world. Therefore, while broken omphalocele could
be a rare event prenatally, it may be less
rare for the pediatric surgeon, whose
diagnosis will most probably be the one
reported to databases for further analysis.
Considering the ECLAMC data
just described, that 13% of all abdominal
wall defects were neither omphalocele
nor gastroschisis, lacked a covering sac,
included intrauterine evisceration, and
are likely to be mistaken with gastroschisis; and that an additional 7% (15% of
49.6% ¼ 7.4%) were misdiagnosed broken omphaloceles, perhaps as many as
20% of all abdominal wall defects could
be erroneously considered gastroschisis
cases because of an existing evisceration.
This error can be avoided if a detailed
anatomical description of the anomaly is
systematically provided (e.g., by a pathologist or a surgeon), but this is very
seldom evident from published series.
The abdominal wall defect in gastroschisis is nearly always small enough
to avoid the evisceration of solid organs
such as spleen, kidneys, or liver. It is
organs such as the small intestine—
hollow organs with positive intraluminal
pressure and well lubricated surface—
that can be eviscerated. Rarely, this
general rule is violated such as when
the Fallopian tubes are pulled by the
intestines to the outside of the body, or,
exceptionally, the small hole is enlarged
by the ripping effect of a solid organ such
as the spleen [Wilson and Johnson,
2004]. Gastroschisis is seldom associated
to other non-gastrointestinal tract malformations [Mastroiacovo et al., 2007].
Published epidemiological series
vary in their working definition of gastro-
schisis. Some reports provide a complete
and correct definition [Stoll et al., 2001;
Williams et al., 2005b]; in some, working
definitions are incomplete, generally
omitting the very small size of the defect
and the absence of eviscerated solid organs
[Calzolari et al., 1995; Rankin et al., 1999;
Reid et al., 2003; Salihu et al., 2003;
Wilson and Johnson, 2004], or even
lacking a covering membrane [Kazaura
et al., 2004; Kunz et al., 2005; Lam and
Torfs, 2006; Kilby, 2006]. Finally, some
reports do not provide a working definition at all [Hemminki et al., 1982; Stone
et al., 1998].
Omphalocele does not mimic gastroschisis, but other body wall defects do.
In trying to explain the
increasing secular trend of the birth
prevalence of gastroschisis, several
authors suspected a misdiagnosis of
omphalocele for gastroschisis, possibly
related to changing registration patterns.
However, most reports were unable to
show the rise of one together with the
drop of the other [Lindham, 1981;
Egenæs and Bjerkedal, 1982; Hemminki
et al., 1982; Martı́nez-Frı́as et al., 1984;
In trying to explain the
increasing secular trend of the
birth prevalence of
gastroschisis, several authors
suspected a misdiagnosis of
omphalocele for gastroschisis,
possibly related to changing
registration patterns. However,
most reports were unable to
show the rise of one together
with the drop of the other or to
convincingly explain in this
way the geographic variations of
birth prevalence.
Calzolari et al., 1993, 1995; Salihu et al.,
2003], or to convincingly explain in this
way the geographic variations of birth
prevalence [Stone et al., 1998]. This is
ARTICLE
not surprising since, as discussed above,
the confusion of gastroschisis exists,
albeit not with omphalocele, exception
made for the abovementioned 7% of
broken omphaloceles, but with other
types of abdominal wall defects with
evisceration.
Williams et al. [2005a] underscored
the need to access the original medical
records to validate the diagnosis of
abdominal wall defects, and highlighted
the advantages of using a surgical code
system. These authors retrieved 142
cases with ICD-9 code 756.7 for
abdominal wall defects born in the State
of Florida in the year 2000, and
registered at the State of Florida Hospital
Discharge Database. Cases were then
linked to the Florida Birth Defect
Registry by the ICD-9-Clinical Modification for Surgical Procedures Code,
finding 93 cases with code 54.71. By
reviewing medical records manually,
the authors confirmed the diagnosis
of gastroschisis in 92 cases and identified
4 cases missed by the birth defect
registry.
GEOGRAPHICAL
VARIATION
Most reported data are not comparable.
It is difficult to interpret the
observed geographic and temporal variations of birth prevalence because
different factors interfere in the observed
rates of gastroschisis. The following
factors are just the most outstanding
factors. All vary widely among registries
and surveillance systems, as well as
within each registry when long periods
are considered, as it is the case when
evaluating secular trends.
(1) Sample size: Sample size relates both
to the population and the time
period under study. Sample size
is crucial for rare events such as
gastroschisis. For instance, detecting
an increase from 1 to 2 cases per
10,000 births during a 10-year
period will require monitoring at
least 185,477 births yearly (with
P < 0.01; beta error of 20%, and
power of 80%). Therefore, in many
ARTICLE
European countries, even with
countrywide data, it will be necessary to group yearly figures to reach
testable sample sizes.
(2) Population or hospital-based: Hospital-based systems are not suitable
to study prevalence of a prenatally
conspicuous anomaly as gastroschisis. The solution, in a review like this
one, is very simple: discard these data
if necessary. However, the main
problem resides with the term
population-based system because it
is often used loosely. The extent to
which a population-based system is
truly ‘‘population-based’’ is seldom
known. Many systems call themselves population-based, but provide
no grounds for the statement. Most
of the self-denominated populationbased programs are not exactly that,
because, for instance, they often do
not cover births from area residents
that occur outside that area. This can
be a serious problem in areas with
high population density such as in
most of Europe. EUROCAT
defines three different levels of
population-based registries: (I) All
mothers who reside in defined geographic area (14 registries); (II) All
mothers who deliver within a defined geographic area, irrespective
of place of residence (7 registries);
(III) All mothers who deliver in a
defined geographic area excluding
non-residents of that area (7 registries). There are also four hospitalbased registries, defined as all mothers delivering in selected hospitals
irrespective of place of residence
(EUROCAT Member Registries.
2006 http://www.eurocat.ulster.c.
uk/memberreg/memberreg.html).
Therefore, in many situations the
so-called population-based type III
would be very similar to hospitalbased systems and subject to similar
ascertainment biases.
(3) Diagnostic certainty: As discussed
above (Gastroschisis Among Other
Body Wall Defects), this is a crucial
issue for gastroschisis.
(4) Data handling: Important issues are
access to original medical reports for
diagnosis validation and the use of
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
appropriate coding system. The
problem with coding systems has
been discussed.
(5) Terminations of pregnancy (ToP):
The registration of cases undergoing
termination of pregnancy after a
prenatal diagnosis of gastroschisis
varies considerably among populations, to the point that comparing
most datasets becomes very difficult.
Criteria that vary widely across
systems include legislation for ToPs,
the registration of cases that are ToP,
certainty of prenatal diagnosis, and
medical indication for ToP in that
case of gastroschisis.
Data from collaborative multicentric
studies are more comparable than single
studies collected from the literature.
Because all reporting registries have
to follow a common explicit protocol (at
least in theory), regional or worldwide
studies are supposed to be more homogeneous with respect to case definition,
exclusion criteria, time period, ascertainment rate, and other elements that
can influence the observed prevalence
rates.
Table I presents the birth prevalence
rates for gastroschisis published in 6
different multicentric studies, based on
54 registries, during different periods
covering a 30 years period (1974–2003).
These registries cover different geographic areas, from a single country such
as Italy to a worldwide area including
four continents. Prevalence rates from
single-center studies are not considered
here because of lack of comparability.
The data from the Clearinghouse
[1991] are shown only for the 11
registries with 10 or more years of data.
To simplify data display, only the median
birth prevalence rates are shown in
Table I, and confidence limits from the
original papers have been omitted.
Three publications from the Clearinghouse included data from registries in
different areas in the world. They
covered the time period starting in
1974–1988 (14 years) [Clearinghouse,
1991], through 1998 (24 years) [Di
Tanna et al., 2002], and through
2003 (29 years) [Mastroiacovo et al.,
2006].
165
Prevalence rates from 29 of the 54
registries included in more than one of
the 6 studies were quite similar, indicating reporting consistency. Some differences are not unexpected due to small
sample sizes in some registries and, in
others, possibly due to time trends.
Low prevalence populations are concentrated in Southern Europe and Middle
East, and particularly in Italy.
The 54 registries in Table I are
distributed in 7 world regions: Great
Britain, Northern Europe, Central
Europe, Southern Europe, Middle East,
Far East, Oceania, North America, and
South America. Data on low prevalence
populations, here defined as having 1
case in 10,000 births or less, were
reported for recent years (until 2002 or
2003) from 12 registries. Four of these
registries are in Italy (North-East, Tuscany, Emilia-Romagna, Campania),
another 3 are also in southern Europe
(Malta, S-Portugal, Basque Country), 3
are from Northern and Central Europe
(N-Netherlands, Antwerp-Belgium,
Hungary), and 3 are from the Middle
East (Israel, United Arab Emirates).
The publication including five Italian registries during 5 years was included
in Table II because the unique situation
of this country in which prevalence rates
for gastroschisis is neither high nor
increasing [Calzolari et al., 1993].
The North to South decreasing gradient
of birth prevalence, described in continental Europe and Britain and Ireland, is
still unproven.
A North-to-South decreasing gradient in the birth prevalence rate of
gastroschisis has been reported for Britain and Ireland [Chalmers et al., 1997]
and Continental Europe [Calzolari et al.,
1995]. Conversely, gastroschisis is more
frequent in Southern than in Northern
Finland, and could reflect variations in
factors such as the proportion of urban
population or time periods [Hemminki
et al., 1982]. However, North-to-South
trends are not evident in the data shown
in Table I, neither for continental
Europe, nor for the UK. Furthermore,
on closer scrutiny, rates decreased significantly in Sweden from 1974 to 1988,
166
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
ARTICLE
TABLE I. Prevalence Per 10,000 of Gastroschisis in 6 Multicentric Studies
Population
Britain and Ireland
England-Wales
UK-Glasgow
UK-Trent
UK-Wales
UK Wessex
UK-Liverpool
UK-Belfast
Ireland-Dublin
Ireland-Galway
Ireland-Cork & Kerry
North and Central Europe
Sweden
Norway
Finland
Denmark
Denmark-Odense
Belgium-Antwerp
Belgium-Hainaut
Netherlands-Northern
Hungary
Czech Republic
Austria-Styria
Prevalence per 10,000
Median year*
Period
2.3
1.5
2.1
0.6
1.8
3.9
4.3
2.7
1.6
0.8
0.0
0.1
0.3
1.1
1.6
2.1
1.0
1.3
1983
1996
2002
1985
1989
2000
2000
1998
1984
1985
1980
1981
1985
1991
1998
2002
1985
1998
1979–1988
1995–1997
2001–2003
1981–1990
1980–1999
1998–2002
1998–2002
1994–2002
1980–1988
1980–1990
0.7
1.0
1.3
1.2
3.1
2.7
0.9
0.6
1.7
2.3
1.9
3.7
1.0
1.1
1.3
0.2
1.0
2.1
1.0
1.1
0.9
0.8
0.5
0.5
0.4
0.3
1.0
0.7
2.8
1980
1974
1975
1980
1998
2002
1984
1986
1994
1997
1998
2002
1985
1985
1991
1985
1999
1985
1983
1985
1991
1992
1996
1983
1992
1996
1976
1996
1995
1974–1988
1980–1982
1980–1990
1980–2002
2001–2003
1981–1990
1996–2001
1974–1976
1974–1988
2001–2003
1984–1988
1993–1995
1993–2002
2001–2003
1983–1988
1980–1990
1980–2002
1980–1990
1997–2002
1980–1990
1981–1984
1981–1990
1981–2002
1981–2003
1995–1998
1982–1984
1982–2003
1995–1998
1974–1979
1995–1998
1990–2001
Source
a
c
c
e
f
f
f
f
e
e
b
c
e
f
b
c
e
f
a
b
c
a
b
c
b
a
c
f
b
c
a
e
f
e
f
e
b1
e
f
c
b1
b1
c
b1
b1
b1
f
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
167
TABLE I. (Continued )
Population
Slovak Republic
Germany-Mainz
Germany-Saxony-Anhalt
Switzerland-Vaud
Luxemburg
France-Strasburg
France-Paris
France-Central-East
France-Marseille
South Europe
Croatia-Zagreb
Italy-IPIMC
Italy-North-East
Italy-Emilia Romagna
Italy-Umbria
Italy-Tuscany
Italy-Campania
Prevalence per 10,000
Median year*
0.6
1.1
4.5
1.5
2.5
1.2
1.6
0.4
0.8
1.5
1.2
1.3
1.9
0.0
0.2
1.1
1.1
1.6
2.7
3.4
0.2
0.4
0.8
0.9
1.5
1.6
1.0
1996
2002
1996
1995
1996
1999
1995
1984
1983
1985
1986
1991
1996
1981
1982
1984
1985
1991
1998
2002
1978
1979
1982
1987
1998
2002
1987
Period
2001–2003
1985–1990
2.0
1.6
0.4
0.5
0.7
0.6
0.5
0.8
1.0
0.9
0.8
0.8
0.9
0.5
0.6
0.3
0.4
0.4
0.3
0.4
0.6
0.7
1986
1992
1982
1986
1985
1986
1992
1982
1983
1985
1986
1990
1991
1996
1983
1986
1985
1986
1991
1997
1997
1997
1983–1990
1983–2002
1978–1988
1984–1989
1981–1990
1984–1989
1981–2003
1978–1988
1980–1984
1980–1990
1984–1989
1978–2003
1981–2002
1995–1998
1980–1986
1984–1989
1980–1990
1984–1989
1980–2002
1992–2003
1991–2003
1996–1999
1995–1997
2001–2003
1990–2002
1987–2003
1991–2002
1988–1990
1989–2002
1980–1989
1982–1984
1982–1988
1982–1990
1982–2001
1995–1998
1981–1983
1981–1988
1981–1990
1981–2002
2001–2003
1978–1980
1976–1988
1985–1990
Source
c
c
f
c
f
e
f
e
b1
a
e
f
b1
b
c
a
e
f
b
c
b
c
a
e
b
c
e
e
f
a
d
e
d
c
a
b1
e
d
c
f
b1
e
d
e
d
f
c
c
f
(Continued )
168
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
ARTICLE
TABLE I. (Continued )
Population
Portugal-S
Spain-ECEMC**
Spain-Asturias
Spain-Barcelona
Spain-Bilbao
Malta
Middle East
Israel-IBDMS
United Arab Emirates
Far East
China-Sichuan
Japan-Tokio
Japan-JAOG
Oceania
Australia-Victoria
Australia-W
Australia
New-Zealand
North America
USA-Atlanta**
USA-Texas
Canada-Alberta
Central and South America
Mexico-RYVEMCE
Prevalence per 10,000
Median year*
0.7
0.2
0.6
0.4
1.5
1.1
1.2
0.8
0.7
1.0
1.0
1996
1998
1982
1996
1996
1997
1990
1996
1988
1994
1998
Period
1980–1984
1995–1998
1990–2002
1992–2002
1990
1990–2002
1986–1990
1986–2002
1993–2003
f
b1
b1
b1
f
f
e
f
e
f
c
0.4
0.5
0.3
0.1
0.8
1982
1983
1990
1996
1999
1980–1984
1978–1988
1978–2003
1995–1998
1996–2003
b1
a
c
b1
c
1.7
0.7
1.0
1.0
1.1
2.3
2.6
1986
1984
1974
1975
1983
1998
2002
1985–1988
1980–1988
a
a
b
c
a
b
c
0.7
2.4
1.5
4.3
0.9
1.0
2.7
0.6
1984
2002
1981
2002
1981
1984
1997
1984
1983–1985
2001–2003
1980–1983
2001–2003
1981–1988
c
c
c
c
b
a
b
a
0.7
1.7
1.9
1.7
2.5
3.9
1.6
1.5
2.5
3.5
1980
1976
1980
1996
2002
1999
1981
1982
1996
2002
1974–1998
1974–1979
1974–1988
1995–1998
2001–2003
1996–2002
1980–1983
1980–1984
1995–1998
2001–2003
b1
b1
a
b1
c
c
c
b1
b1
c
1.4
1.2
1.4
4.9
5.1
1975
1980
1984
1998
2002
1974–1976
c
b
a
b
c
1990–2002
1974–1976
1979–1988
2001–2003
1981–1988
1980–1988
1980–1998
2001–2003
Source
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
169
TABLE I. (Continued )
Population
Prevalence per 10,000
Median year*
0.1
0.0
0.5
2.9
2.9
1974
1975
1980
1998
2002
S-America-ECLAMC
Period
1974–1976
1974–1988
2001–2003
Source
b
c
a
b
c
Prevalence unless otherwise stated is mean birth prevalence per 10,000.
a, Clearinghouse [1991]; b, Di Tanna et al. [2002]; b1, Di Tanna et al. [2002]: data quoted but not published, available on Clearinghouse
[2000]; c, Mastroiacovo et al. [2006]; d, Calzolari et al. [1993]; e, Calzolari et al. [1995]; f, Loane et al. [2007].
*Median year of the period of observation.
**Terminations of pregnancy are not included.
and in England and Wales from 1979 to
1988 [Clearinghouse, 1991].
Gastroschisis seems to be more frequent
in Caucasians compared to African
Blacks and Orientals, and in Northern
compared to Southern Europeans.
Since the biological and cultural
concept of ethnicity includes the genetic
concept of race, ethnic differences could
shed light in the understanding on the
role of gene–environment interaction in
the etiology of gastroschisis. However, in
societies where ethnic groups are stratified, there is a close association with
variations in socio-economic status
(SES) and, as discussed below, in public
health impact. Since geographic variations may be confounded by ethnic
background (in addition to differences
in definitions and ascertainment), it is
helpful to stratify findings by race or
ethnicity, even within the same study.
In the US, reported rates of gastroschisis were higher in Caucasians compared to African-Americans [Salihu
et al., 2004; Williams et al., 2005b;
In the US, reported rates of
gastroschisis were higher in
Caucasians compared to
African-Americans and
Orientals. Genetic
susceptibility to specific
environmental (e.g., lifestyle)
factors may play a role in
the reported geographic
variation of gastroschisis.
Canfield et al., 2006; Abdullah et al.,
2007], and Orientals [Forrester and
Merz, 1999]. Genetic susceptibility to
specific environmental (e.g., lifestyle)
factors may play a role in the reported
geographic variation of gastroschisis.
Nevertheless, the role of race and
ethnicity in the time trends observed
worldwide remains unclear.
SECULAR TRENDS
Increasing birth prevalence rates of
gastroschisis were reported for the early
1970s in Sweden by Källén and Lindham
[1982], followed shortly by similar findings from Norway [Egenæs and Bjerkedal, 1982]. In both instances, the increase
was sudden. To explain these findings,
Källén and Lindham [1982] proposed a
cohort hypothesis, whereby mothers
born between 1953 and 1955 would
have been exposed to a teratogen, along
the lines of what was proposed (and
confirmed) for adenocarcinoma of the
vagina in females exposed ‘‘in utero’’ to
diethyl-stilboestrol [Davis et al., 1981].
However, for gastroschisis time did not
confirm this hypothesis, since maternal
age did not return to expected values, as
the secular trend reached a plateau in the
following years as expected [Hemminki
et al., 1982].
Data on the secular trends of
prevalence reported from 4 multicentric
studies are summarized in Table II, and
those from 29 single-center publications
are summarized in Table III. Data
reported by Calzolari et al. [1995], and
Loane et al. [2007] are not included in
Table II because no data on temporal
trends were reported. Increasing temporal trends were reported by 16 of the
33 multicentric in Table II, while stable
trends were reported in 17. Six of the 17
registries with stable trend are in Italy, 5
of which are included in Calzolari et al.
[1993] publication. The consistency of
the findings from Italy suggests that the
low observed prevalence in Italy is real.
According to comparable data from
the mid 1970s to the late 1980s
(Table II), reported to the Clearinghouse
[1991] by 11 congenital anomalies
monitoring systems in three continents,
only ECLAMC-South America showed
increasing secular trends, with a birth
prevalence of 0.1 per 10,000 births in
1974 increasing to 0.6 in 1988. Other
eight programs reported stable rates
during the same period, and two programs reported decreasing rates (Sweden
and England and Wales). In Sweden,
after the initial increase, rates appeared to
decrease from about 1979. A later
Clearinghouse study, with data through
the late 1990s [Di Tanna et al., 2002]
showed evidence for significant
rising secular trends in 9 of 19 reporting
programs (Table II).
Increasing time trends were
reported by 27 of the 36 single-center
studies shown in Table III. No one
program had stable rates: three in Europe
(Italy [Calzolari et al., 1993], Denmark
170
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
ARTICLE
TABLE II. Time Trends in the Birth Prevalence of Gastroschisis in 4 Multicentric Studies
Population
Britain and Ireland
England and Wales
Ireland-Dublin
N-Europe
Sweden
Norway
Finland
Trend
Period
Source
!
~
~
~
1979–1988
1995–2003
1981–1998
1980–2003
a
c
b
c
!
1974–1988
1974–1988
1974–1998
1974–2003
1984–1998
1993–2003
1983–1998
1981–2003
a
a
b
c
b
c
b
c
1982–1998
1982–2003
1974–1998
1987–2003
1995–2003
1983–1998
1981–1998
1981–2003
1976–1988
1984–1998
1978–2003
b
c
b
c
c
b
b
c
a
b
c
1978–1988
1984–1989
1982–1998
1981–2003
1984–1989
1978–1988
1978–1998
1978–2003
1984–1989
1984–1989
1992–2003
1984–1989
1991–2003
1976–1988
1980–1998
1993–2003
a
d
b
c
d
a
b
c
d
d
c
d
c
a
b
c
1974–1998
1978–2003
1996–2003
b
1979–1988
a
~
~
~
~
North Netherlands
Central Europe
Hungary
Czech Republic
Germany-Saxony
Slovak Republic
France-Strasbourg
France-Paris
~
~
~
France-Central East
~
~
S-Europe
Italy-Multicentric National IPIMC
Italy-North East
Italy-Emilia Romagna
Italy-Umbria
Italy-Tuscany
Italy-Campania
Spain-ECEMC
~ ns
Malta
Middle East
Israel
United Arab Emirates
Far East
Japan National
~ ns
c
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
171
TABLE II. (Continued )
Population
Trend
Period
Source
~
~
1978–1988
1974–1998
1974–2003
a
b
c
~
~
~
1981–1997
1980–2003
1983–2003
b
c
c
~
1978–1988
1974–1988
1974–2003
1996–2002
1980–1998
1974–2003
a
b
c
c
b
c
~
~
~
~
~
1980–1998
1980–2003
1974–1988
1974–1998
1974–2003
b
c
a
b
c
Japan JAOG
Oceania
Australia
Western Australia
Australia-Victoria
N-America
Atlanta-USA
~
Texas-USA
Canada-Alberta
S-America
Mexico-RYVEMCE
South America-ECLAMC
ns ¼ not statistically significant.
a, Clearinghouse [1991]; b, Di Tanna et al. [2002]; c, Mastroiacovo et al. [2006]; d, Calzolari et al. [1993].
[Bugge and Holm, 2002] and Strasburg
[Stoll et al., 2001]), three in North
America: Florida [Williams et al.,
2005a], New York State [Salihu et al.,
2003], and Canada-British Columbia
[Baird and McDonald, 1981]), two in
Oceania (South Australia and Western
Australia [Byron-Scott et al., 1998], and
one in Asia (China-National) [Zhou
et al., 2005].
A global picture of the prevalence
data from the literature data summarized
in Tables I–III is illustrated in Figure 1.
This figure clearly shows the increased
prevalence over the last decades, and
particularly in the last 15 years (Fig. 1).
The baseline birth prevalence rate of
gastroschisis before the pandemic may
have been approximately 1 in 50,000
births, has increased worldwide 10- to
20-fold as of now, and may still be
increasing in many areas.
The baseline birth prevalence
rate of gastroschisis before the
pandemic may have been
approximately 1 in 50,000
births, has increased worldwide
10- to 20-fold as of now, and
may still be increasing in
many areas.
Gastroschisis used to be a very rare
congenital anomaly, under the standard
definition of a birth prevalence rate less
than 1 in 10,000. In the late 1950s,
Simpson and Caylor [1958] described in
the surgical literature cases 15 and 16 of
this rare body wall defect type. Before
then, gastroschisis was rarely distinguished clearly from omphalocele in
the clinical literature [Moore and Stokes,
1953].
Birth defect monitoring started in
the mid 1960s, with seven registries in
Europe, North America, and South
America. The Czechoslovakian Registry started in 1961 [Kucera, 1961]; in
1964 the British Columbia Health
Surveillance Registry [Lowry et al.,
1975; Baird and McDonald, 1981], the
Congenital Malformation Monitoring
Program of England and Wales [Weatherall and Haskey, 1976], and the Swedish
Registry of Congenital Malformations
[Källén and Winberg, 1968]; and in
1967 the Medical Birth Registry of
Norway [Irgens, 2000], the Metropolitan Atlanta Congenital Defects Program-USA [Williams et al., 2005a],
and ECLAMC in South America [Castilla and Orioli, 2004].
The first registered cases of gastroschisis are known for four of those seven
programs. In British Columbia, no cases
were reported for the first 5 years (1964–
1968) among 168,654 monitored births,
one case was reported in 1969, and 28
cases were reported among 322,129
births (0.87/10,000) during the 1970s
[Baird and McDonald, 1981]. In Sweden, the Register of Congenital Malformations started in 1965 with nationwide coverage 8 years later, and
monitored yearly between 80,000 and
100,000 births. Diagnoses of gastroschisis were validated by medical record
review. No cases were registered until
1970, 3 cases in 1971, none in 1972, and
Ireland-E
England-N
England-Wales
England-SW
England-5 regions
England-Wales
Sweden
Sweden
Norway
Norway
Finland
Denmark
France-Strasbourg
Spain-ECEMC
Spain-ECEMC c
Italy-5 registries
BC-Canada
California
Atlanta
Utah
Saskatchewan-Canada
Hawaii
Hawaii
Tennessee
New York State
Florida
N Carolina
ECLAMC
Britain and
Ireland
Period
1981–2000
1986–1996
1987–1991
1987–1995
1991–1999
1994–2004
1965/1968–1973/1976
1965–1980
1967/1974–1995/1998
1966/1967–1978/1979
1970/1974–1975/1979
1970–1989
1979–1998
1976–1981
1980/1985–2000/2004
1984–1989
1964–1978
1968–1977
1968–1998
1971–2002
1985/1990–1996/2000
1986/1990–1997/2002
1986–1997
1989–2001
1992–1999
1997–2001
1997–2000
1982–2006
Trend
~
~*
~**
~**
~a
~
~*
~
~**
~*
~**
—
—
~**,b
~a
—
—
~**
~a
~**
~*
~**
~*
~ns
—
—
~**
~
10
11
5
9
10
11
12
16
22
13
10
20
20
6
15
6
15
10
33
32
6
17
12
13
8
5
4
25
0.06
0.76
0.36
1.85
2.19
2.52
2.00
1.32
3.80
1.96
0.42
0.00
1.57
1.00
1.48
0.65
1.60
2.10
2.50
0.31
0.40
0.48
0.15
0.77
Rate per
10,000
earliest
year(s)
0.57
0.81
1.33
1.76
0.89
2.00
3.92
4.06
4.03
3.85
5.60
1.65
2.90
4.50
5.79
1.20
2.99
4.94
5.29
1.35
4.90
3.10
4.40
1.20
0.80
2.91
1.25
1.42
Rate per
10,000
latest year(s)
14.83
2.63
10.89
2.19
1.84
1.53
2.80
1.25
0.76
2.30
13.79
NC
1.90
4.94
3.57
2.08
3.06
1.48
1.76
3.87
2.00
6.06
8.33
1.84
Rate ratio
latest/
earliest
McDonnell et al. [2002]
Rankin et al. [1999]
Tan et al. [1996]
Penman et al. [1998]
Rankin et al. [2005]
Kilby [2006]
Lindham [1981]
Källén and Lindham [1982]
Kazaura et al. [2004]
Egenæs and Bjerkedal [1982]
Hemminki et al. [1982]
Bugge and Holm [2002]
Stoll et al. [2001]
Martı́nez-Frı́as et al. [1984]
Bermejo et al. [2006]
Calzolari et al. [1993]
Baird and McDonald [1981]
Roeper et al. [1987]
Williams et al. [2005b]
Hougland et al. [2005]
Baerg et al. [2003]
Forrester and Merz [2006]
Forrester and Merz [1999]
Collins et al. [2007]
Salihu et al. [2003]
Williams et al. [2005a]
Laughon et al. [2003]
Unpublished
References
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
S-America
N-America
Central-Europe
S-Europe
N-Europe
Population
Area
Number
of years
considered
TABLE III. Time Trends of Birth Prevalence of Gastroschisis in Single Center or Single Country Studies
172
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
2.22
2.00
3.62
1.51
0.00
3.18
2.00
0.47
0.56
Far East
ns, not stated; NC, not computable.
a
No statistically significant difference between rates in earliest year compared with rates in latest year.
b
Statistically significant temporal trend.
c
Only under 21 years of maternal age; no increase in over 20 years maternal age.
*P < 0.05.
**P < 0.001.
1.43
1.00
0.13
0.37
1980/1990–1991/1993
1980–2001
1975/1980–1996/1997
1993/1997–1998–2002
1996–2000
~*
~**
~ns
~a
—
Australia-Perth
Australia-W
Japan Nationwide
Singapore
China-National
20
22
23
10
5
1980–1990
1980–1990
1980–1993
—
—
~ns
Oceania
Australia-S
Australia-W
Australia-W
11
11
14
0.48
2.56
2.03
1.50
3.16
0.00
0.00
6.58
Byron-Scott et al. [1998]
Byron-Scott et al. [1998]
Quoted by Byron-Scott
et al. [1998]
Nichols et al. [1997]
Reid et al. [2003]
Suita et al. [2000]
Tan et al. [2008]
Zhou et al. [2005]
ARTICLE
173
1 case in 1973 [Källén B, personal
communication; Källén and Lindham,
1982].
In Norway, no cases were registered
among 67,288 births in the register
first year, 1967, 2 in 1968, 4 in 1969,
0.92/10,000 in the 1970s, rising to 2.9/
10,000 in the late 1990s [Kazaura et al.,
2004]. In Atlanta, no data were reported
for 1967, 2 cases registered in 1968, and
2 in 1969, giving a birth prevalence rate
of 0.74 in the 1960s, rising up to 1.31 in
the 1970s, 2.01 in the PubMed e 1980s,
2.15 in the 1990s, and 4.60 in the 2000s
[Williams et al., 2005b]. Also in Spain
(1976–1978) and in Emilia Romagna
(1978–1980) no gastroschisis cases
were detected in the first 3 years of
the registries [Clearinghouse, 1991].
ECLAMC did not registered any case
of gastroschisis among the 238,655
births covered in its first 6 years, between
1967 and 1972; registering an increasing
birth prevalence rate of 0 in the 1960s,
0.08 in the PubMed e 1970s, 0.56 in the
1980s, 1.66 in the PubMed e 1990s, and
3.98 in the 2000s [Castilla and Orioli,
2004].
Gastroschisis was a very rare anomaly until the 1960s, when the prevalence
started increasing at somewhat
different times around the world. It is
difficult to distinguish whether these
changes were real or related to changes
in ascertainment and registration by
surveillance systems that were in the
initial years of their operation. However,
even if some cases were missed or
misdiagnosed, the birth prevalence of
gastroschisis in the 1960s was most
probably similar to that of very rare
anomalies such as sirenomelia, cyclopia,
acardio-acephalus, and conjoined twins.
It is reasonable to conclude that the birth
prevalence of gastroschisis, once very
rare, has increased worldwide for about
50 years, from the 1960s until the
present time, and it is still increasing in
most regions.
Even if some reports suggest that the
increase in birth prevalence has slowed or
stopped, it is still too early to be sure that
a plateau has been reached.
The initial report of a rising trend
from Sweden in the early 1970s [Lind-
174
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
ARTICLE
body stalk disruptions, and
hemifacial microsomia.
Figure 1. Birth prevalence of gastroschisis over time, as reported by the published
studies reviewed in Tables I–III of this article.
ham, 1981], followed by the decreasing
trend reported from the same registry for
the 1974–1988 period [Clearinghouse,
1991], suggests that a plateau was
reached in that country in the late
1970s or early 1980s. However, no other
evidence can be found in the literature of
a similar phenomenon, including for the
early reporting rise from Norway
[Kazaura et al., 2004] where the rising
trend persisted until 1998. A stabilization
of the trend was reported from the state
of Tennessee-USA for recent years in the
21st. century [Collins et al., 2007]. In
Denmark there was an increase in
prevalence in the 1970s, until 1976,
followed by a decrease to its initial
baseline value in 1983, and a new rise
for the rest of the 1980s [Bugge and
Holm, 2002]. In the Atlanta Metropolitan Area, unlike other places, the
percentage of gastroschisis born from
mothers younger than 20 years,
decreased from 50% in the 1968–1975
period, to 35% in 1976–2000, thus
indicating a stabilization after the
increase in the 1970s [Williams et al.,
2005b].
Asynchronies in time trends among
populations could be real or artificial.
Rates increased first in Scandinavian countries in the 1970s and stabilized
in the late 1980s. These asynchronies
could be artificial, perhaps due to better
diagnosis, registration by system with a
real population basis (EUROCAT Type
I), and increase use of prenatal diagnosis
and elective pregnancy termination.
These factors, however, do not exclude
that residual asynchrony really exists
among populations, as predicted by the
cohort hypothesis of Källén and Lindham’s [Källén and Lindham1982],
although the cohort hypothesis is not
supported by the lack of predicted
increase of the average maternal age as
the trends in prevalence leveled off.
MATERNAL AGE AND
RELATED VARIABLES
Most congenital anomalies that are
associated with maternal age display a
direct relation, with risk increasing with
increasing maternal age. An inverse
An inverse association
(increasing risk with lower
maternal age) has been described
for gastroschisis and very few
other structural anomalies
such as schizencephaly
hydranencephaly, porencephaly,
septo-optic dysplasia, early
association (increasing risk with lower
maternal age) has been described for
gastroschisis and very few other structural anomalies such as schizencephaly
[Curry et al., 2005], hydranencephaly,
porencephaly, septo-optic dysplasia,
early body stalk disruptions, and hemifacial microsomia. These anomalies
were grouped by Lubinsky [1997] as
vascular disruptions. Low maternal age is
also associated with an increased risk for
pre-eclampsia [Terje Lie et al., 1998].
However, very low maternal age is not
strongly associated with birth defects
other than gastroschisis, and the rare
exceptions [Chen et al., 2007] are likely
due to misclassification. The relation
between risk and maternal age for
omphalocele is reported to be U-shaped
[Martı́nez-Frı́as et al., 1984; Roeper
et al., 1987; Tan et al., 1996; ByronScott et al., 1998], or simply increasing
with age [Hemminki et al., 1982; Torfs
et al., 1990]. From published data it is
often difficult to know how much of the
peak at young age of the risk of gastroschisis reflects the maternal age distribution in the general population maternal
age, and how much is due to overrepresentation of teenage mothers,
probably from misclassified gastroschisis
cases.
None of the reviewed studies
described normal maternal age distribution for the cases with gastroschisis.
Temporal increase of teenage mothers
were reported only from North Carolina
[Laughon et al., 2003], and Norway
[Kazaura et al., 2004], whereas other two
studied found that the temporal increase
in the prevalence of gastroschisis was
almost entirely based on cases from
teenage mothers Suita et al. [2000] from
Japan, and Bermejo et al. [2006] from
Spain. All these four studies also found
high prevalence (above 1/10,000) and
increasing temporal trends in the prevalence of gastroschisis cases with very
low maternal ages.
ARTICLE
The contribution of increasing rates of
teenage pregnancy on the rising trends of
gastroschisis remains unclear.
Few series are sufficiently well
described and large enough to contribute meaningful data to this question.
The population-based study encompassing all mothers in Norway over 32 years
(1967–1998) concluded that the prevalence of gastroschisis increased in all
maternal age categories, supporting the
notion that time trends and low maternal
age are independent [Kazaura et al.,
2004]. A similar conclusion was reached
by three other studies in England [Penman et al., 1998], Hawaii [Forrester and
Merz, 1999], and Japan [Suita et al.,
2000]. The only exception was one
study of 11 years (1986–1997) in the
US state of North Carolina that concluded that the increase was almost
entirely due to the increase of teenage
mothers [Laughon et al., 2003]. One
study in Western Australia analyzed the
distribution of maternal age in gastroschisis in three periods, from 1992 to
2001, concluding that the effect of
teenage mothers in cases of gastroschisis
seems to be diminishing in time, with an
increase in the proportion of 20–24 years
old mothers [Reid et al., 2003].
It is unclear whether the increased risk
associated with young maternal age was
already present during the baseline
period, before the pandemic started.
It is difficult to know the maternal
age distribution in gastroschisis cases
during the ‘‘baseline period,’’ before
the mid 1960s, mainly because of the
lack of precise diagnosis, specified
maternal age data, and reliable registry
data. Bernstein [1940] reported one case
of gastroschisis born in New York City
in 1939, from a 28-year-old mother.
The description seems to fit our present
understanding of this defect even if it is
left-sided, and it is difficult to understand
how one lobe of the liver can herniate
through a ‘‘3 cm in diameter circular
opening.’’ Bernstein names this patient’s
defect as gastroschisis, or epigastroschisis, following Taruffi’s classification
of gastroschisis in 1894. As already
discussed, the confusion in nomencla-
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
ture impedes any interpretation of those
early data.
Bernstein [1940] carefully reviewed
the literature since the 16th century and
no mention is made to unusual maternal
age. Likewise, Simpson and Caylor
[1958] do not provide the ages of the
mothers for the two reported cases,
alleged to be reported cases number
15th and 16th in the medical literature,
and maternal age is not mentioned. On
the other hand, since adolescent motherhood was not an unusual event in most
world populations before World War II
[Carp, 2002], perhaps this was not a
noteworthy piece of information in
those days.
Maternal age and covariates.
Kazaura et al. [2004] reported a
residual effect of paternal age in gastroschisis, which suggests that low maternal
age could not be the only risk factor, but
perhaps the most conspicuous factor
correlated with an underlying causal
factor. Changing paternity, its closely
related short pre-pregnancy interval, and
short co-habitation were investigated
both as part of this type of reasoning,
fueled also by the recognition of the
post-World War II changes in sexual
behavior, values, and practices. An
unquestionable worldwide epidemic
such as that of gastroschisis calls for a
causal investigation of global catastrophes, in its Greek etymological sense of
‘‘overturn.’’ Even when the results are
not conclusive yet [Chambers et al.,
2007; Rittler et al., 2007], a short
cohabitation time could be a primary
acting factor, suggesting that antigenic
or other factors related to modern lifestyles might be involved in the causation
of gastroschisis. Elsewhere in this seminar series others will discuss very young
maternal age as an indicator of obstetrical
high risk group, possibly correlated to
social deprivation, environmental risks
including malnutrition, poor health
care, unwanted pregnancies, increased
consumption of social drugs, and other
potential risk factors.
In populations with low prevalence
and no increasing trend of gastroschisis,
the relation between low maternal age
and increased risk of gastroschisis still
175
seems to exist, as reported in studies from
Italy [Calzolari et al., 1993], California
[Roeper et al., 1987], and Spain [Bermejo et al., 2006], among others.
Furthermore,
as
seen
before,
increasing secular trends in gastroschisis
prevalence are not entirely explained by
increasing secular trends in the young
maternal age group, in spite of two
indirect observations about the important, thought partial, role of maternal age
on prevalence temporal trends [Suita
et al., 2000; Bermejo et al., 2006].
The fact that other body wall defects, as
well as gastroschisis associated with other
malformations, do now show the association with young maternal age underscores the uniqueness of gastroschisis as a
nosological entity.
The lack of association with young
maternal age for other body wall defects,
as well as for gastroschisis cases associated
with other unrelated anomalies, is
widely proved in the literature [Roeper
et al., 1987; Geronimus and Korenman,
1993; Haddow et al., 1993; Nichols
et al., 1997; Penman et al., 1998; Terje
Lie et al., 1998; Suita et al., 2000;
McDonnell et al., 2002; Laughon et al.,
2003; Kazaura et al., 2004; Curry et al.,
2005; Emusu et al., 2005; Loane et al.,
2007; Yang et al., 2007]. This uniqueness of isolated gastroschisis strongly
suggests it constitutes a single nosological entity.
PUBLIC HEALTH IMPACT
The global human situation is marked by
inequalities among as well as within
countries. Therefore, because obstetrical and neonatal management as well as
the public health impact of gastroschisis
is expected to vary widely among
regions and social strata, only general
principles will be mentioned here.
A public health evaluation of gastroschisis should consider the increasing
occurrence—gastroschisis used to be as
rare as sirenomelia, is now as frequent as
esophageal atresia, and could come to be
much more frequent in the future.
Furthermore, this evaluation should
consider the strong relation with
176
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
A public health evaluation
of gastroschisis should
consider the increasing
occurrence—gastroschisis used
to be as rare as sirenomelia, is
now as frequent as esophageal
atresia, and could come to
be much more frequent
in the future.
adolescent mothers with all its related
social and medical complications. On
the other hand, if properly managed,
gastroschisis may have a very good
prognosis, with low morbidity and
mortality [Abdullah et al., 2007], further
supporting proactive medical care of the
affected infant from the time of fetal
diagnosis [Baerg et al., 2003].
Prenatal diagnosis, either early by
alpha-feto-protein determinations, or
late by ultrasound, allows the elective
termination of pregnancy, if accepted by
local culture, allowed by legislation, and
desired by the parents. The latter is the
most controversial issue, because of the
expected good prognosis of gastroschisis
given best medical practices. In practice,
termination of pregnancy is reported in
only 15% of cases of gastroschisis,
compared for example to 30% among
cases of omphalocele [Forrester et al.,
1998]. Prenatal diagnosis is the essential
first step for appropriate treatment.
Irreversible damage of the eviscerated
intestines might be preventable with
transabdominal amniotic fluid exchange
[Aktug et al., 1998], and reduced by
monitoring of intestinal wall thickening
to decide timing and way of delivery
[Charlesworth et al., 2007; Murphy
et al., 2007]. The postnatal benefits of
prenatal diagnosis are clear and many,
and include earlier family awareness,
adequate institution of delivery with
alerted obstetrical [Santiago-Muñoz
et al., 2007], pediatric, and surgical staff
[Aizenfisz et al., 2006], better risk
categorization, and personalized protocol for action.
A recent study of 4,344 cases with
gastroschisis in the USA developed a
categorization index for risk of death
considering complex and simple classes,
according to the presence or absence of
associated congenital anomalies, prematurity, low birth weight [Charlesworth
et al., 2007], length of necrotized
intestines, and other complications
[Abdullah et al., 2007; Arnold et al.,
2007a,b]. Of these cases, 11% were
classified as complex gastroschisis, and
significantly differed from the 89% of
simple cases in median length of stay (67
vs. 28 days), inpatient mortality (8.7% vs.
2.9%), and median hospital charges
($197,871 vs. $90,788, in 2005 US
dollars). Similar findings, also from the
US, were reported the Centers for
Disease Control and Prevention
(CDC) in 2007 [CDC, 2007]. Even if
countries and health system would
differ from these values in absolute
terms, they should be similar in relative
terms.
Even thought health inequalities are
more marked in developing countries,
they exist in almost every country.
Perhaps the US is one of the countries
that has and shares more information on
this issue, which does not imply that it is
the only country with this problem. In
spite of gastroschisis being less frequent
in whites than in blacks, black infants
with gastroschisis, compared to similarly
affected white infants, tend to have a
more complicated clinical course
[Arnold, 2004; Arnold et al., 2007a,b;
Charlesworth et al., 2007] and a higher
mortality rate [Salihu et al., 2004].
Gastroschisis hits disproportionately the vulnerable population of very
young women, whose socio-economic
status may be low and who may not seek
or get health care [Geronimus and
Korenman, 1993; Emusu et al., 2005;
Chen et al., 2007]. Public health intervention should consider these array of
Gastroschisis hits
disproportionately the
vulnerable population of very
young women, whose
ARTICLE
socio-economic status may be
low and who may not seek or get
health care.
factors and their correlates, including
smoking [Haddow et al., 1993; Rodrı́guez-Pinilla et al., 1996; Lam and Torfs,
2006], social drug consumption [Torfs
et al., 1994], unprescribed medications
[Werler et al., 1992a,b, 2003], malnutrition [Torfs et al., 1998; Lam et al.,
1999], and obesity [Waller et al., 2007].
The increasing frequency of gastroschisis, as well as improvements of
medical techniques to reduce morbidity
and mortality, is also increasing the
burden and costs of this anomaly on the
health systems. The number of surgical
repairs in the US doubled between 1996
and 2003 at the National level, averaging
3 procedures for every 10,000 births
[Alvarez and Burd, 2007]. This scenario
calls for an increase in public health
investments aimed at extending and
improving surveillance, mainly in the
areas of the world where such surveillance does not exist [Mastroiacovo et al.,
2006], promoting the use of birth defect
registries for etiologic studies, improving surveillance of risk factors, and
supporting basic and applied research
to test sensible hypothesis for the
etiology of gastroschisis.
The understanding of the etiology
and pathogenesis of gastroschisis, and
particularly the characterization of modifiable risk factors, are essential components for effective strategies aimed at the
primary prevention of this serious and
common congenital anomaly.
CONCLUSIONS
Gastroschisis offers the intriguing epidemiological situation of a worldwide
pandemic with secular trends increasing
internationally and a strong association
with very low maternal age. We estimate
that the birth prevalence rate of gastroschisis before the pandemic was approximately 1 in 50,000 births, that such
baseline rate increased between 10- and
20-fold, and that rates are still increasing
in many areas worldwide. Even if some
ARTICLE
reports suggest that prevalence has
reached a plateau, it is still too early to
know for sure. A significant challenge in
interpreting current epidemiologic data
is that many of the published data are not
comparable, mainly because of differences (or uncertainties) in each study’s
case definition of gastroschisis, particularly with respect to what is included and
what is excluded.
Because most cases of gastroschisis
are isolated, and because the diagnosis is
commonly made prenatally, timely and
appropriate care and treatment is feasible
with low morbidity and mortality rates.
However, this ideal scenario requires
pre-established protocols at all levels of
medical care. Since gastroschisis hits
disproportionately the vulnerable population of very young women, often
with low socio-economic status, public
health interventions should address a
range of related social factors in this
group, including smoking, social drug
consumption, use of unprescribed medications, malnutrition, and obesity. The
postnatal benefits of a prenatal diagnosis
of gastroschisis are many, and includes
family awareness, adequate planning of
delivery with alerted obstetrical, pediatric, and surgical staff; optimal risk
categorization, and personalized protocol for action.
Since gastroschisis is more frequent
in Caucasians than in African Blacks and
Orientals, etiologic studies should
address the role of gene–environment
interactions. From the perspective of
primary prevention, there needs to be a
renewed focus on modifiable risk factors. Finally, there is an urgent need for
sound and testable working hypotheses
that build on biologic considerations and
epidemiologic data to guide etiologic
studies of gastroschisis—following the
steps of Lejeune in the late 1950s whose
identification of aneuploidy in Down
syndrome connected the epidemiology
of Down syndrome and the biology of
Drosophila, both well-known decades
earlier.
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