Gao et al. BMC Pediatrics(2024) 24:584
https://doi.org/10.1186/s12887-024-05056-8

BMC Pediatrics

RESEARCH

Open Access

Descriptive epidemiology of gastroschisis
in China from 2007 to 2020: a nationwide
surveillance-based study
Yuyang Gao1,2, Wenli Xu1,2, Wenyan Li1, Zhiyu Chen1, Qi Li1, Zhen Liu1, Hanmin Liu2,3,4* and Li Dai1,2,4,5*Abstract
Background Gastroschisis is a common abdominal wall defect that increases infant mortality risk and health carecosts. However, recent epidemiological data on gastroschisis in China is limited.
Methods Using 2007–2020 data from the Chinese Birth Defects Monitoring Network (CBDMN), we analyzed
gastroschisis prevalence rates stratified by birth year, maternal age group, residence area, geographical region, andinfant sex. We also examined the temporal variations in prevalence, pregnancy outcomes of affected infants, prenatal
diagnoses, and co-occurring anomalies.
Results From 2007 to 2020, a total of 6,813 cases of gastroschisis were identified among 25,909,000 births,
comprising 4,675 isolated and 2,138 non-isolated cases. Prevalence rates per 10,000 live and still births were 2.63,
1.80, and 0.83 for the overall, isolated, and non-isolated gastroschisis, respectively, all showing a decreasing trend overthe study period. The prevalence of overall gastroschisis varied significantly by maternal age (< 20 years, 9.88/10,000;
20–24 years, 4.17/10,000; 25–29 year, 2.08/10,000; 30–34 years, 1.88/10,000;≥35 years, 2.24/10,000), maternal residence(urban, 2.45/10,000; rural, 2.85/10,000), geographic region (central, 2.54/10,000; east, 2.57/10,000; west, 2.80/10,000),
and infant sex (male, 2.13/10,000; female, 1.79/10,000). Non-isolated gastroschisis cases had a higher early neonatal
mortality rate than isolated cases (41.91% vs. 28.10%) and frequently co-occurred with musculoskeletal anomalies.
Conclusions This study highlights a declining trend in gastroschisis prevalence in Chinese population, a contrast
to previous studies, and underscores the need for improved perinatal management due to adverse pregnancy
outcomes associated with this condition.
Keywords Gastroschisis, Epidemiology, Prevalence rate, Chinese*Correspondence:
Hanmin Liu
liuhm@scu.edu.cn
Li Daidaili@scu.edu.cn
1National Center for Birth Defects Monitoring, West China Second
University Hospital, Sichuan University, Chengdu, Sichuan 610041, China
2
The Joint Laboratory for Pulmonary Development and Related Diseases,
West China Institute of Women and Children’s Health, West China Second
University Hospital, Sichuan University, Chengdu, Sichuan, China

3

National Health Commission Key Laboratory of Chronobiology (Sichuan
University), Chengdu, Sichuan, China
4
Key Laboratory of Birth Defects and Related Diseases of Women andChildren (Sichuan University), Ministry of Education, Chengdu, Sichuan,
China
5
Med-X Center for Informatics, Sichuan University, Chengdu, Sichuan,
China© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0
International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you
give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified thelicensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images orother third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to thematerial. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation
or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://
creativecommons.org/licenses/by-nc-nd/4.0/.

Gao et al. BMC Pediatrics(2024) 24:584

Background
Gastroschisis, a congenital structural defect, is defined bya paraumbilical anterior abdominal wall defect that permits evisceration of the intestinal loops and occasionallyparts of the colon and other organs [1, 2]. Despite numerous hypotheses, including amnion weakness, vascularalterations, and inadequate periumbilical tissue development, a consensus on the origin of gastroschisis remains
elusive [2]. The proportion of concomitant malformation varies widely from 5 to 53% [3–5]. While prenatal
prognosis and postnatal survival for gastroschisis are
generally favorable [6], the condition continues to be asignificant contributor to neonatal morbidity and mortality, as well as healthcare costs, due to complications arising from the defect itself or the surgical intervention [7].
The gastroschisis prevalence varies considerably acrossgeographical regions and racial/ethnic groups with a
global rate of 3.06 per 10,000 births [8, 9]. The time trendof gastroschisis prevalence has been extensively studied in Western countries [1, 10, 11] since Lindham firstreported an increasing trend in Sweden during 1965 to1976 in 1981 [4]. A recent study utilizing data from 23
surveillance programs of the International Clearinghousefor Birth Defects Surveillance and Research (ICBDSR)
found that 14 (61%) programs demonstrated a statistically significant increasing trend in decade-specificprevalence, while 1 (4%) showed a significant decrease[8]. However, national studies from Asian countries are
scarce. A previous study reported a stable prevalence ofgastroschisis in China from 1996 to 2007 [12], despite
significant changes in the country’s economy, environment, and maternal and child health over recent decades[13]. To provide updated insights into the epidemiological characteristics of gastroschisis in the Chinese population, we analyzed data from the Chinese Birth Defects
Monitoring Network (CBDMN) spanning 2007–2020.
Our analysis focused on the prevalence pattern, seculartrends, perinatal outcomes, and associated malformations in non-isolated cases.
Methods
Study subjects

The study population included cases of gastroschisis
among live births and stillbirths reported to the CBDMN
from 2007 to 2020. Stillbirths were classified as fetal
deaths or terminations of pregnancy due to prenatallydiagnosed anomalies (TOPFA). The CBDMN, establishedin 1986, is a nationwide hospital-based birth defects surveillance system, encompassing 763 member hospitals
and accounting for over 10% of China’s annual births[14]. The details on case ascertainment, data collection,and quality control of this system have been previously
published [14–16]. In brief, birth defect diagnoses are
made by pediatric, obstetric, or ultrasound specialists

Page 2 of 8

in member hospitals during gestation and within sevendays post-birth. Monthly summary data on live births or
stillbirths with a gestational age ≥ 28 weeks, along withinformation of birth defects cases irrespective of gestational age are routinely collected and reported by trained
staff via an online data reporting system. All anomalies in
the CBDMN database are ultimately coded by a national
panel in accordance with the International Classificationof Disease 10th version (ICD-10). Particularly, records
with the ICD-10 code for gastroschisis (Q79.3) wereextracted for this analysis, including both isolated (gastroschisis only) and non-isolated cases (those accompanied by other congenital anomalies). Cases of amniotic
band syndrome, limb-body wall complex (LBW) andOEIS (omphalocele, exstrophy, imperforate anus, spinal)
were excluded.
Diagnostics

Ultrasound serves as the primary tool for prenatal diagnosis of gastroschisis, enabling detection by the early second trimester in nearly all instances [7]. CBDMN adopts
the definition and criterion of gastroschisis used by
ICBDSR, a congenital malformation characterized by visceral herniation, usually through a right-sided abdominal
wall defect adjacent to an intact umbilical cord, without acovering membrane [17]. In the surveillance system, birthdefect diagnoses are mandated to adhere to the CBDMN
surveillance manual and associated clinical guidelines. As
per the Administrative Method on Antenatal Diagnostic
Techniques Regulation issued by China Health Commission in 2003, prenatal diagnoses should be confirmed byat least two qualified doctors in a certified prenatal diagnosis center. For cases of suspected gastroschisis identified via prenatal ultrasound scans, post-termination caseascertainment or post-birth examination is required.
This study received approval from the Medical Ethics
Committee of West China Second University Hospital,
Sichuan University. All procedures were conducted incompliance with relevant guidelines and regulations or
declaration of Helsinki, and the requirement for individual informed consent was waived.
Statistical analysis

The prevalence rates (PR) for total, live birth, and TOPFA
were defined as the number of corresponding cases per
10,000 live and still births. Prevalence was analyzed
across categories including birth year (2007–2020),
maternal age (< 20, 20–24, 25–29, 30–34, and ≥ 35 years),maternal residence (urban and rural), geographic region(east, central, and west), and infant sex (female and male).
Maternal residence was classified into urban (cities orurbanized areas or neighborhood committee) and rural
areas (villages or countryside), depending on the mother’s last residence for at least 1 year. Geographic regions

Gao et al. BMC Pediatrics(2024) 24:584

were delineated by geographical locations and economic
conditions. Comparisons of birth weight (< 2,500 g,
2,500–3,999 g, and ≥ 4,000 g), gestational age (< 37,
37–41, and ≥ 42 weeks of gestation), and pregnancy outcomes (stillbirth, early neonatal death, alive more than
7 days) were made between isolated and non-isolatedcases. Chi-square test was used to examine differencesin rates or percentages between groups, while linear Chisquare test was adopted to detect temporal changes inprevalence. Poisson regression was applied for estimating
the adjusted prevalence rate ratios (PRR). All statisticalanalyses were performed by R 4.3.1, with a significancelevel for α set at 0.05.

Results
During 2007 to 2020, a total of 6,813 gastroschisis cases(4,675 isolated and 2,138 non-isolated cases) were identified among 25,909,000 births, yielding prevalence rates of
2.63 (95% CI: 2.57–2.70), 1.80 (95% CI: 1.75–1.86), and0.83 (95% CI: 0.79–0.86) per 10,000 live and still births foroverall, isolated, and non-isolated gastroschisis, respectively. Additionally, the total number of cases comprised
1,161 live births, 453 fetal death, and 5,193 TOPFA. The
prevalence rates of live birth, fetal death, and TOPFA
gastroschisis were 0.45 (95% CI: 0.42–0.48), 0.18 (95%
CI: 0.16–0.19), and 2.00 (95% CI: 1.95–2.06) per 10,000,
respectively. The prevalence rate of gastroschisis exhibited a downward trend, decreasing from 3.49 to 1.97 per
10,000 births for overall gastroschisis, from 2.65 to 1.23
per 10,000 births for isolated cases, and from 0.84 to 0.74
per 10,000 births for non-isolated cases (Table 1). Thisdeclining trend was observed across maternal age, sex,
residential area, and geographic region. The most pronounced decrease was noted in the maternal age group
below 20 years, where the prevalence rate dropped from15.37 per 10,000 births in 2007 to 9.32 per 10,000 births
in 2020, reaching a low of 4.65 per 10,000 births in 2019
(Fig. 1).
Table 1 shows the association between gastroschisis prevalence rates and selected demographic factors, adjusted for birth year, maternal residence, infantsex, and geographical region. Notably, higher PRs wereobserved in the maternal age groups of <20 years and
20–24 years, and the lower PRs in the 30–34 years
group for overall and isolated gastroschisis, comparedto the 25–29 years group. An excess in prevalence rate
was observed in males across all types of gastroschisis(overall: 2.13 vs. 1.79 per 10,000 births; isolated: 1.56 vs.
1.38 per 10,000; non-isolated: 0.57 vs. 0.41 per 10,000).
Furthermore, an urban-rural disparity was identified
for overall and isolated gastroschisis, with higher rates
in rural areas (urban vs. rural, overall: 2.45 vs. 2.85 per
10,000; isolated: 1.56 vs. 2.11 per 10,000). Geographically,
the lowest rates of overall and isolated gastroschisis were

Page 3 of 8

found in the eastern region, followed by the rates in thewestern or central regions. However, for non-isolatedcases, the lowest rate was found in the central region.
This study identified 5,789 prenatally diagnosed gastroschisis cases, with an average gestational age at diagnosis of 21.38 ± 7.88 weeks. A comparison between the
periods 2007–2013 and 2014–2020 revealed a significant increase in prenatal diagnoses (79.98% vs. 90.76%,
χ2 = 154.15, P<0.001) and a decrease in the average gestational age at diagnosis (23.87 ± 7.88 weeks vs. 18.83 ± 7.03,
t’=25.72, P<0.001) in the latter period. Of all cases,
76.22% (5,193) resulted in termination due to prenatallydiagnosed defects. Non-isolated cases exhibited a higher
percentage of TOPFA (87.75%) compared to isolatedcases (70.95%). Among the 1161 live births with gastroschisis, adverse outcomes included 42.20% prematurebirths, 52.71% low birth weight (< 2,500 g), and 29.72%
early neonatal deaths (within 7 days after birth). Non-isolated cases had a significantly higher early neonatal death
rate (41.91%) than isolated cases (28.10%) (Table 2). Overthe 14-year period, the early neonatal death rate among
live births with gastroschisis decreased significantly from
42.15 to 16.67% (χ2 = 5.83, P = 0.017), with a higher rate
observed in rural areas (32.55%) compared to urban areas(24.31%) (χ2 = 8.50, P = 0.004).
As shown in Tables 3, 2,138 (31.38%) gastroschisis cases
were concomitant with other congenital malformations.
Among these, 51.03% were associated with musculoskeletal system malformations, 40.46% with nervous system
malformations, and 12.02% with circulatory system malformations. Gastroschisis cases were infrequently accompanied by respiratory system malformations (1.26%) andchromosomal abnormalities (1.45%).

Discussion
Based on the nationally representative CBDMN data, thisstudy observed a significantly decreased prevalence ofgastroschisis in Chinese population from 3.49 to 1.97 per
10,000 births during 2007– 2020, with an average of 2.63
per 10,000 births. This prevalence was lower than thosereported in countries in the North America [18–20] andSouth America [8], higher than those reported in mostof the countries in the Europe [5, 8], and comparable
to the report in Liaoning Province of China [21]. Variations in prevalence across countries may be attributed toheterogeneity in maternal race/ethnicity, geographicallocation, inclusion and exclusion criteria, and diagnostic
capability. Ethnic differences could provide insights into
the role of gene-environment interaction in the etiology of gastroschisis [22]. A national study in the UnitedStates found that the gastroschisis prevalence among
fetuses/infants born to Non-Hispanic American Indianor Alaska Native mothers was nearly 3 times higher
than that among fetuses/infants born to Non-Hispanic

Gao et al. BMC Pediatrics(2024) 24:584

Page 4 of 8

Table 1 Prevalence of gastroschisis (1/10,000) in China during 2007–2020, stratified by birth year, maternal age, sex, residential area,
and geographical region
Numberof birth
Birth year2007
1,258,298
2008
1,314,091
2009
1,401,331
2010
1,531,143
2011
1,681,096
2012
2,005,526
2013
1,893,560
2014
2,198,802
2015
1,883,843
2016
2,432,979
2017
2,315,621
2018
2,097,800
2019
2,143,629
2020
1,751,281
Maternal age (years)< 20532,179
20–24
5,242,272
25–29
10,711,653
30–34
6,470,891≥ 35
2,952,005
Sex
Male
13,693,353
Female12,210,726
Residential area
Urban
14,219,655
Rural
11,689,345
Geographic region
East
8,346,584
Central9,584,722
West
7,977,694

Isolated gastroschisis (N = 4,675)
N

PR(95%CI)

aPRR(95%CI)

Non-isolated gastroschisis(N = 2,138)
N
PR(95%CI)
aPRR(95%CI)

333
333
392
377
446
426
338
357
318
342
302
266
230
215

2.65(2.37,2.95)
2.53(2.27,2.82)
2.80(2.53,3.09)
2.46(2.22,2.72)
2.65(2.41,2.91)
2.12(1.93,2.34)
1.78(1.60,1.99)
1.62(1.46,1.80)
1.69(1.51,1.88)
1.41(1.26,1.56)
1.30(1.16,1.46)
1.27(1.12,1.43)
1.07(0.94,1.22)
1.23(1.07,1.40)

1.00(ref )0.88(0.75,1.04)
0.95(0.82,1.11)
0.80(0.68,0.93)
0.84(0.73,0.98)
0.70(0.60,0.81)
0.58(0.49,0.68)
0.53(0.45,0.62)
0.53(0.45,0.63)
0.46(0.39,0.54)
0.43(0.36,0.51)
0.39(0.33,0.47)
0.32(0.26,0.39)
0.38(0.31,0.46)

106
128
131
149
146
165
192
154
158
225
155
165
134
130

0.84(0.69,1.02)
0.97(0.81,1.16)
0.93(0.78,1.11)
0.97(0.82,1.14)
0.87(0.73,1.02)
0.82(0.70,0.96)
1.01(0.88,1.17)
0.70(0.59,0.82)
0.84(0.71,0.98)
0.92(0.81,1.05)
0.67(0.57,0.78)
0.79(0.67,0.92)
0.63(0.52,0.74)
0.74(0.62,0.88)

1.00(ref )1.13(0.83,1.54)
1.13(0.83,1.53)
1.19(0.89,1.60)
0.87(0.64,1.18)
0.97(0.73,1.30)
1.05(0.79,1.41)
0.74(0.55,1.00)
0.88(0.65,1.19)
0.92(0.69,1.23)
0.55(0.40,0.76)
0.62(0.45,0.85)
0.39(0.27,0.56)
0.58(0.41,0.81)

439
461
523
526
592
591
530
511
476
567
457
431
364
345

3.49(3.17,3.83)
3.51(3.20,3.84)
3.73(3.42,4.07)
3.44(3.15,3.74)
3.52(3.24,3.82)
2.95(2.71,3.19)
2.80(2.57,3.05)
2.32(2.13,2.53)
2.53(2.30,2.76)
2.33(2.14,2.53)
1.97(1.80,2.16)
2.05(1.87,2.26)
1.70(1.53,1.88)
1.97(1.77,2.19)

1.00(ref )0.93(0.81,1.07)
0.99(0.86,1.13)
0.87(0.76,1.00)
0.85(0.75,0.98)
0.75(0.66,0.86)
0.67(0.58,0.77)
0.57(0.50,0.66)
0.60(0.52,0.69)
0.55(0.48,0.63)
0.45(0.39,0.53)
0.44(0.37,0.51)
0.33(0.28,0.39)
0.42(0.35,0.49)

470
1,690
1,365
740
410

8.83(8.05,9.67)
3.22(3.07,3.38)
1.27(1.21,1.34)
1.14(1.06,1.23)
1.39(1.26,1.53)

8.09(7.22,9.06)
2.60(2.39,2.81)
1.00(ref )0.88(0.80,0.98)
1.12(0.98,1.27)

56
494
860
477
251

1.05(0.79,1.37)
0.94(0.86,1.03)
0.80(0.75,0.86)
0.74(0.67,0.81)
0.85(0.75,0.96)

1.90(1.38,2.56)
1.44(1.25,1.66)
1.00(ref )0.92(0.79,1.08)
1.15(0.95,1.38)

526
2,184
2,225
1,217
661

9.88(9.06,10.77)
4.17(3.99,4.34)
2.08(1.99,2.17)
1.88(1.78,1.99)
2.24(2.07,2.42)

6.22(5.60,6.90)
2.25(2.09,2.41)
1.00(ref )0.90(0.82,0.98)
1.13(1.01,1.25)

0.57(0.53,0.61) 1.40(1.25,1.57) 2,919 2.13(2.06,2.21)
0.41(0.37,0.44) 1.00(ref )2,181 1.79(1.71,1.86)

1.20(1.13,1.26)
1.00(ref )2,143 1.56(1.50,1.63) 1.14(1.07,1.21) 776
1,686 1.38(1.32,1.45) 1.00(ref )495

2,214 1.56(1.50,1.63) 0.87(0.81,0.93) 1,273 0.90(0.85,0.95) 1.10(0.98,1.23)
2,461 2.11(2.02,2.19) 1.00(ref )865
0.74(0.69,0.79) 1.00(ref )1,363 1.63(1.55,1.72) 0.87(0.80,0.95) 778
1,753 1.83(1.74,1.92) 1.00(0.93,1.07)
685
1,559 1.95(1.86,2.05) 1.00(ref )675

Overall gastroschisis (N = 6,813)
N

PR(95%CI)

aPRR(95%CI)

3,487 2.45(2.37,2.54)
3,326 2.85(2.75,2.94)

0.92(0.87,0.98)
1.00(ref )0.93(0.87,1.00) 0.91(0.80,1.05)
2,141 2.57(2.46,2.68)
0.71(0.66,0.77) 0.83(0.72,0.95) 2,438 2.54(2.44,2.65)
0.85(0.78,0.91) 1.00(ref )2,234 2.80(2.69,2.92)

0.88(0.82,0.95)
0.95(0.89,1.02)
1.00(ref )Abbreviation N, number; PR, prevalence rate; aPRR, adjusted prevalence rate ratio; ref, reference. Adjusted for birth year, maternal age, residential area, geographicalregion, and infant sex. Numbers marked in bold indicate a statistically signifcant diference

Asian or Pacific Islander mothers [18]. The inclusion of
fetuses/infants with gastroschisis at a gestation age of lessthan 28 weeks may have contributed to a slightly higher
prevalence in this study compared to that reported by
the same surveillance system for the period 1996–2007(2.54/10,000 births) [12].
While a global upward trend in the prevalence of gastroschisis has been observed [23–25], this study presents
a contrasting trend in China. Drawing from data from 23
national surveillance programs, 14 (61%) countries exhibited an increase in gastroschisis prevalence from 1980 to2017 [8]. A US population-based study reported a 30%
increase in gastroschisis prevalence between 1995 and2005 (3.6/10,000) and 2006–2012 (4.9/10,000) [11]. And
several countries such as Canada have demonstrated substantial annual variations in prevalence [8, 19]. However,

our study found a significant downward trend in gastroschisis prevalence in China over the last fourteen years,
diverging from the stable trend observed between 1996
and 2007 in a previous study [12]. A similar decreasing
trend was found in Liaoning Province in China from2006 to 2015 [21], and in Sweden, England and Walesfrom 1974 to 1988 [26]. While it is widely accepted that
gastroschisis is strongly associated with young maternalage [2, 9, 27], our results showed a decrease in prevalenceacross all maternal age categories. This suggests that the
downward trend may be more attributable to advancements in socio-economic factors, such as improvedsocioeconomic status, folic acid supplementation, andenhanced diagnostic accuracy [22, 28, 29], rather thana decrease in maternal age. Given that the trend in thisstudy contradicts those in most countries worldwide, itGao et al. BMC Pediatrics(2024) 24:584

Page 5 of 8

Fig. 1 Time trends in the prevalence of gastroshisis in China, 2007–2020. (a) Stratified by case type (overall, χ2 = 378.89, p < 0.001; isolated, χ2 = 425.44,
p < 0.001; non-isolated, χ2 = 18.03, p < 0.001), (b) stratified by maternal residence (urban, χ2 = 125.17, p < 0.001; rural, χ2 = 256.06, p < 0.001), (c) stratified
by infant sex (male, χ2 = 242.30, p < 0.001; female, χ2 = 464.64, p < 0.001), and (d) stratified by maternal age (< 20, χ2 = 9.63, p = 0.002; 20–24, χ2 = 158.25,
p < 0.001; 25–29, χ2 = 71.35, p < 0.001; 30–34, χ2 = 17.88, p < 0.001; ≥35, χ2 = 24.44, p < 0.001)

Table 2 Characteristics of 1,161 live birth cases withgastroschisis
Isolated cases Non-isolated Total cases(N = 1 025)
cases
(N = 1,161)(N = 136)
Gestational age (weeks)<37
421 (41.19%)
69 (50.74%)
490(42.20%)37–41
588 (57.53%)
67 (49.26%)
655(56.42%)≥ 42
13 (1.27%)
0 (0.00%)
13 (1.12%)
Birth weight (g)<2,500533 (52.20%)
79 (59.40%)
612(52.71%)2,500-3,999
478 (46.82%)
53 (39.85%)
531(45.74%)≥ 4,000
10 (0.98%)
1 (0.75%)
11 (0.95%)
Early neonate outcome*
Early neonate death
288 (28.10%)
57 (41.91%)
345(29.72%)
Alive within 7 days
737 (71.90%)
79 (58.09%)
816(70.28%)
There were 3 missing values for gestational age and 7 for birth weight*χ2 = 10.97, P = 0.001

is premature to predict the future prevalence of gastroschisis in China, underscoring the need for continued
national surveillance.
Our Poisson regression analysis revealed significant
variations in gastroschisis prevalence by maternal age,
infant sex, urban-rural classification, and geographic

region. Notably, gastroschisis disproportionately affected
the vulnerable population of very young women. After
adjusting for birth year, maternal residence, infant sex,
and geographical region, younger mothers were foundto have a higher likelihood of offspring with gastroschisis compared to the 25–29 year old age group, regardlessof gastroschisis type. These findings align with previous
studies [3, 12, 18, 30]. The biological mechanisms underlying this phenomenon remain unclear, and proposed
hypotheses, such as thrombotic events [2] and maternal immature uterine vasculature [31], are still subject
to considerable debate [32] and warrant further investigation. Lifestyle behaviors, environmental exposures,or other risk factors disproportionately affecting young
women, such as malnutrition, smoking, alcohol, illicit
drug use, analgesic medications, and genitourinary
infections, may contribute [11, 27]. The male-female difference in gastroschisis occurrence remains a topic ofdebate. Our study, consistent with some studies, founda male predominance in both isolated and non-isolated
gastroschisis cases [30, 33] contradicting a previous study
in the Chinese population [12] and several studies reporting no statistical difference between males and females[19, 34]. The reason for these sex disparities remains
unknown. Significant urban–rural, geographic differences in gastroschisis prevalence were also identified.
Fetuses or infants born to mothers living in urban area or

Gao et al. BMC Pediatrics(2024) 24:584

Page 6 of 8

Table 3 Abnormalities associated with gastroschisis cases
System/ abnormalities
Nervous system
Spina bifida
Anencephaly
Encephalocele
Eye, ear, face and neck
Other congenital malformationsof face and neckCongenital malformations of ear
Circulatory system
Congenital heart disease
Malformations of cardiac septa
Other congenital malformationsof heart
Other congenital malformationsof peripheral vascular system
Respiratory system
Congenital malformations oflungCongenital malformations ofnose
Cleft lip and cleft palate
Cleft palate with cleft lip
Cleft lip
Digestive system
Congenital absence, atresia andstenosis of large intestine
Other congenital malformationsof intestine
Genital organs
Indeterminate sex andpseudohermaphroditism
Urinary system
Other cogenital malformation ofurinary system
Malformations of renal pelvis
and ureter
Musculoskeletal system
Cogenital malformation of spineand bony thorax
Limb deficiencies (reduction
defects)
Deformities of feet
Chromosomal abnormalities
Edward’s syndrome
Down’s syndrome
Patau’s syndrome
Other malformations
Other congenital malformations,
not elsewhere classified
Other specified congenital malformation syndromes affecting
multiple systems

ICD-10
Q00-Q07
Q05
Q00
Q01
Q10-Q18
Q18

Cases
865
329
227
167
70
31

Percent
40.46
15.39
10.62
7.81
3.27
1.45

Q16-Q17
Q20-Q28
Q20-Q26
Q21
Q24

24
257
193
95
77

1.12
12.02
9.03
4.44
3.60

Q27

74

3.46

Q30-Q34
Q33

27
15

1.26
0.70

Q30

11

0.51

Q35-Q37Q37
Q36
Q38-Q45
Q42

221
142
67
65
51

10.34
6.64
3.13
3.04
2.39

6

0.28

Q50-Q56
Q56

140
118

6.55
5.52

Q60-Q64
Q64

90
45

4.21
2.10

Q62

18

0.84

Q65-Q79
Q76

1,091
466

51.03
21.80

Q71-Q73

424

19.83

Q66
Q90-Q99
Q91.0-Q91.3
Q90
Q91.4-Q91.7
Q80-Q89
Q89

236
31
13
7
5
69
48

11.04
1.45
0.61
0.33
0.23
3.23
2.25

Q87

18

0.84

Q43

eastern region of China had a lower risk of gastroschisis
compared to those born to mothers living in rural area
or western region. As documented in early studies [13,35, 36], women living in urban area or the eastern region
tend to have better socioeconomic status and health careaccess. Gastroschisis may be confused with omphalocele, LBW, Pentalogy of Cantrell and other abdominal
wall defects [2, 37], but the higher diagnostic capability
in urban areas and eastern region could reduce misdiagnosis. Further etiological and analytical epidemiologicalstudies are needed to elucidate these differences.
In this study, 84.97% gastroschisis cases were diagnosed
prenatally. This proportion reached 90.77% during 2014–2020, comparable to rates in developed countries suchas the Netherlands (95.24%) [38], Germany (87.5%) [39]and the UK (100%) [40]. The average gestational age at
diagnosis advanced to about 19 weeks during 2014–2020.
Notably, only 15.04% cases were diagnosed in the first trimester, contrasting with a UK study where all cases werediagnosed in the first trimester [41]. This suggests thatas ultrasound technology improves and becomes more
widely available, more gastroschisis can be diagnosed
prenatally. However, there remains a need to enhancesonographer skill levels for earlier diagnosis. Early diagnosis facilitates additional testing, prenatal counseling,
and a more precise prognosis assessment. Sonographer
must exercise caution as normal physiological midgut
herniation, which occurs in the developing fetus during
the first trimester, could potentially be misidentified as an
abdominal wall defect [42].
With advancements in medical and surgical care, theoverall gastroschisis prognosis is generally favorable, withsurvival rates exceeding 90% in the developed countries[43]. However, complex gastroschisis, which accounts forapproximately 20% of cases and is characterized by intestinal complications such as perforation, stenosis, volvulus, atresia, or necrotizing enterocolitis, is associatedwith a high risk of adverse outcomes including neonatal
death, prolonged mechanical ventilation, extended hospital stays, and long-term parenteral nutrition [44, 45]. In
our study, 76.22% of fetuses with gastroschisis were terminated, a decision largely dependent on the pregnant
woman and legally permitted in China. Affected infants
exhibited significantly higher rates of preterm birth, lowbirth weight, and death within the first 7 days of life compared to the general birth population [46–48] and infants
with other congenital malformations [15, 16, 49]. Early
neonatal deaths were more common in non-isolated gastroschisis cases. These poor pregnancy outcomes underscore the need for improvements in perinatal care andeffective interventions in China.
In our study, 31.38% cases were accompanied by additional congenital malformations. The rate was higher
than the 14.12% reported by Pierpaolo Mastroiacovo etGao et al. BMC Pediatrics(2024) 24:584

al. [3], 17.64% reported by Fatih Aktoz et al. [50] and 27%
reported by Maria Loane et al. [23], but lower than the53.19% reported by Claude Stoll et al. [5]. Musculoskeletal system malformations, nervous system malformations
and circulatory system malformations were the top 3
frequently coexisting anomalies of non-isolated gastroschisis. In our study, 0.46% of cases were accompanied bychromosomal disorders, a figure lower than the previous
study (1.23%) [3]. This discrepancy could be due to mostpregnant women opting out of further examinations after
gastroschisis was confirmed via ultrasound.
This study’s strength lies in its use of extensive, highquality CBDMN data from 2007 to 2020, offering a
reliable gastroschisis prevalence rate across diverse
socio-demographic regions. It builds upon and expands
previous epidemiological research in China, revealing adeclining trend in gastroschisis prevalence over the past
14 years. However, limitations include potential referralbias from hospital-based samples, mitigated by China’s
99% average hospital delivery rate. Additionally, regional
disparities in medical capabilities may have led to underrecognition of LBW and Pentalogy of Cantrell cases, possibly inflating the prevalence rate.

Conclusions
This study sheds light on the evolving epidemiology ofgastroschisis in China, spanning a period of 14 years. It
reveals a notable decline in the prevalence of gastroschisis. Infants affected by this condition are at an elevatedrisk of experiencing adverse pregnancy outcomes. Thesefindings underscore the pressing necessity to enhancefamily counseling, perinatal care, and the implementation of efficacious interventions.
Abbreviations
ICBDSR	International Clearinghouse for Birth Defects Surveillance andResearch
CBDMN	Chinese Birth Defects Monitoring Network
TOPFA	Termination of pregnancy due to prenatally diagnosed anomalies
ICD-10	International Classification of Disease, 10th version
LBW	Limb-body wall complex
PR	Prevalence rate
PRR	Prevalence rate ratio
aPRR	Adjusted prevalence rate ratio
CHD	Congenital heart defects
Acknowledgements
The authors thank the obstetricians, pediatricians, pathologists and otherparticipants involved in the birth defects monitoring network. The content of
this article is solely the responsibility of the authors and do not represent theofficial view of the National Center for Birth Defects Monitoring.
Author contributions
YG performed statistical work and drafted the manuscript. WX, WL, ZC, ZL, andQL participated in the data collection and preparation. HL and LD designed
research plan and revised the manuscript. All authors had read and approved
the final manuscript.
Funding
This project was supported by the Grants from National Key R&D Program ofChina (2017YFC0907304) and National Health Commission of China.

Page 7 of 8

Data availability
The data in this study were obtained from the CBDMN, which isco-established by the National Health Commission of the People’s Republicof China and Sichuan University. The data used in this study are owned by
National Health Commission of the People’s Republic of China, and theresearchers did not obtain consent to publicly share these data. However, theidentified dataset is available to interested researchers upon request. For data
requests, please contact the corresponding author to apply for authorization,
at: daili@scu.edu.cn.

Declarations
Ethics approval and consent to participantsThis research was approved by the Medical Ethics Committee of the West
China Second University Hospital of Sichuan University. The need for informed
consent was waived by the Medical Ethics Committee of the West China
Second University Hospital of Sichuan University, because of the retrospective
nature of the study.
Consent for publication
Not applicable.
Competing interests
The authors declare no competing interests.
Received: 22 May 2024 / Accepted: 4 September 2024

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