
==== Front
BMC Pediatr
BMC Pediatr
BMC Pediatrics
1471-2431
BioMed Central London

5056
10.1186/s12887-024-05056-8
Research
Descriptive epidemiology of gastroschisis in China from 2007 to 2020: a nationwide surveillance-based study
Gao Yuyang 12
Xu Wenli 12
Li Wenyan 1
Chen Zhiyu 1
Li Qi 1
Liu Zhen 1
Liu Hanmin liuhm@scu.edu.cn

234
Dai Li daili@scu.edu.cn

1245
1 grid.461863.e 0000 0004 1757 9397 National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041 China
2 grid.461863.e 0000 0004 1757 9397 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 https://ror.org/011ashp19 grid.13291.38 0000 0001 0807 1581 National Health Commission Key Laboratory of Chronobiology (Sichuan University), Chengdu, Sichuan China
4 https://ror.org/03m01yf64 grid.454828.7 0000 0004 0638 8050 Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan China
5 https://ror.org/011ashp19 grid.13291.38 0000 0001 0807 1581 Med-X Center for Informatics, Sichuan University, Chengdu, Sichuan China
14 9 2024
14 9 2024
2024
24 58422 5 2024
4 9 2024
© The Author(s) 2024
2024
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Background

Gastroschisis is a common abdominal wall defect that increases infant mortality risk and health care costs. 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, and infant 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 over the 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
http://dx.doi.org/10.13039/501100012166 National Key Research and Development Program of China 2017YFC0907304 http://dx.doi.org/10.13039/501100018684 National Health Commission of the People’s Republic of China issue-copyright-statement© BioMed Central Ltd., part of Springer Nature 2024
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pmcBackground

Gastroschisis, a congenital structural defect, is defined by a paraumbilical anterior abdominal wall defect that permits evisceration of the intestinal loops and occasionally parts of the colon and other organs [1, 2]. Despite numerous hypotheses, including amnion weakness, vascular alterations, 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 a significant 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 across geographical regions and racial/ethnic groups with a global rate of 3.06 per 10,000 births [8, 9]. The time trend of gastroschisis prevalence has been extensively studied in Western countries [1, 10, 11] since Lindham first reported an increasing trend in Sweden during 1965 to 1976 in 1981 [4]. A recent study utilizing data from 23 surveillance programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) found that 14 (61%) programs demonstrated a statistically significant increasing trend in decade-specific prevalence, while 1 (4%) showed a significant decrease [8]. However, national studies from Asian countries are scarce. A previous study reported a stable prevalence of gastroschisis 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, secular trends, 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 prenatally diagnosed anomalies (TOPFA). The CBDMN, established in 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 in member hospitals during gestation and within seven days post-birth. Monthly summary data on live births or stillbirths with a gestational age ≥ 28 weeks, along with information 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 Classification of Disease 10th version (ICD-10). Particularly, records with the ICD-10 code for gastroschisis (Q79.3) were extracted 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) and OEIS (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 a covering membrane [17]. In the surveillance system, birth defect 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 by at least two qualified doctors in a certified prenatal diagnosis center. For cases of suspected gastroschisis identified via prenatal ultrasound scans, post-termination case ascertainment 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 in compliance 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 or urbanized areas or neighborhood committee) and rural areas (villages or countryside), depending on the mother’s last residence for at least 1 year. Geographic regions 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-isolated cases. Chi-square test was used to examine differences in rates or percentages between groups, while linear Chi-square test was adopted to detect temporal changes in prevalence. Poisson regression was applied for estimating the adjusted prevalence rate ratios (PRR). All statistical analyses were performed by R 4.3.1, with a significance level 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), and 0.83 (95% CI: 0.79–0.86) per 10,000 live and still births for overall, 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). This declining 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 from 15.37 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 Prevalence of gastroschisis (1/10,000) in China during 2007–2020, stratified by birth year, maternal age, sex, residential area, and geographical region

	Number of birth	Isolated gastroschisis (N = 4,675)	Non-isolated gastroschisis (N = 2,138)	Overall gastroschisis (N = 6,813)	
N	PR(95%CI)	aPRR(95%CI)	N	PR(95%CI)	aPRR(95%CI)	N	PR(95%CI)	aPRR(95%CI)	
Birth year	
2007	1,258,298	333	2.65(2.37,2.95)	1.00(ref)	106	0.84(0.69,1.02)	1.00(ref)	439	3.49(3.17,3.83)	1.00(ref)	
2008	1,314,091	333	2.53(2.27,2.82)	0.88(0.75,1.04)	128	0.97(0.81,1.16)	1.13(0.83,1.54)	461	3.51(3.20,3.84)	0.93(0.81,1.07)	
2009	1,401,331	392	2.80(2.53,3.09)	0.95(0.82,1.11)	131	0.93(0.78,1.11)	1.13(0.83,1.53)	523	3.73(3.42,4.07)	0.99(0.86,1.13)	
2010	1,531,143	377	2.46(2.22,2.72)	0.80(0.68,0.93)	149	0.97(0.82,1.14)	1.19(0.89,1.60)	526	3.44(3.15,3.74)	0.87(0.76,1.00)	
2011	1,681,096	446	2.65(2.41,2.91)	0.84(0.73,0.98)	146	0.87(0.73,1.02)	0.87(0.64,1.18)	592	3.52(3.24,3.82)	0.85(0.75,0.98)	
2012	2,005,526	426	2.12(1.93,2.34)	0.70(0.60,0.81)	165	0.82(0.70,0.96)	0.97(0.73,1.30)	591	2.95(2.71,3.19)	0.75(0.66,0.86)	
2013	1,893,560	338	1.78(1.60,1.99)	0.58(0.49,0.68)	192	1.01(0.88,1.17)	1.05(0.79,1.41)	530	2.80(2.57,3.05)	0.67(0.58,0.77)	
2014	2,198,802	357	1.62(1.46,1.80)	0.53(0.45,0.62)	154	0.70(0.59,0.82)	0.74(0.55,1.00)	511	2.32(2.13,2.53)	0.57(0.50,0.66)	
2015	1,883,843	318	1.69(1.51,1.88)	0.53(0.45,0.63)	158	0.84(0.71,0.98)	0.88(0.65,1.19)	476	2.53(2.30,2.76)	0.60(0.52,0.69)	
2016	2,432,979	342	1.41(1.26,1.56)	0.46(0.39,0.54)	225	0.92(0.81,1.05)	0.92(0.69,1.23)	567	2.33(2.14,2.53)	0.55(0.48,0.63)	
2017	2,315,621	302	1.30(1.16,1.46)	0.43(0.36,0.51)	155	0.67(0.57,0.78)	0.55(0.40,0.76)	457	1.97(1.80,2.16)	0.45(0.39,0.53)	
2018	2,097,800	266	1.27(1.12,1.43)	0.39(0.33,0.47)	165	0.79(0.67,0.92)	0.62(0.45,0.85)	431	2.05(1.87,2.26)	0.44(0.37,0.51)	
2019	2,143,629	230	1.07(0.94,1.22)	0.32(0.26,0.39)	134	0.63(0.52,0.74)	0.39(0.27,0.56)	364	1.70(1.53,1.88)	0.33(0.28,0.39)	
2020	1,751,281	215	1.23(1.07,1.40)	0.38(0.31,0.46)	130	0.74(0.62,0.88)	0.58(0.41,0.81)	345	1.97(1.77,2.19)	0.42(0.35,0.49)	
Maternal age (years)	
< 20	532,179	470	8.83(8.05,9.67)	8.09(7.22,9.06)	56	1.05(0.79,1.37)	1.90(1.38,2.56)	526	9.88(9.06,10.77)	6.22(5.60,6.90)	
20–24	5,242,272	1,690	3.22(3.07,3.38)	2.60(2.39,2.81)	494	0.94(0.86,1.03)	1.44(1.25,1.66)	2,184	4.17(3.99,4.34)	2.25(2.09,2.41)	
25–29	10,711,653	1,365	1.27(1.21,1.34)	1.00(ref)	860	0.80(0.75,0.86)	1.00(ref)	2,225	2.08(1.99,2.17)	1.00(ref)	
30–34	6,470,891	740	1.14(1.06,1.23)	0.88(0.80,0.98)	477	0.74(0.67,0.81)	0.92(0.79,1.08)	1,217	1.88(1.78,1.99)	0.90(0.82,0.98)	
≥ 35	2,952,005	410	1.39(1.26,1.53)	1.12(0.98,1.27)	251	0.85(0.75,0.96)	1.15(0.95,1.38)	661	2.24(2.07,2.42)	1.13(1.01,1.25)	
Sex	
Male	13,693,353	2,143	1.56(1.50,1.63)	1.14(1.07,1.21)	776	0.57(0.53,0.61)	1.40(1.25,1.57)	2,919	2.13(2.06,2.21)	1.20(1.13,1.26)	
Female	12,210,726	1,686	1.38(1.32,1.45)	1.00(ref)	495	0.41(0.37,0.44)	1.00(ref)	2,181	1.79(1.71,1.86)	1.00(ref)	
Residential area	
Urban	14,219,655	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)	3,487	2.45(2.37,2.54)	0.92(0.87,0.98)	
Rural	11,689,345	2,461	2.11(2.02,2.19)	1.00(ref)	865	0.74(0.69,0.79)	1.00(ref)	3,326	2.85(2.75,2.94)	1.00(ref)	
Geographic region	
East	8,346,584	1,363	1.63(1.55,1.72)	0.87(0.80,0.95)	778	0.93(0.87,1.00)	0.91(0.80,1.05)	2,141	2.57(2.46,2.68)	0.88(0.82,0.95)	
Central	9,584,722	1,753	1.83(1.74,1.92)	1.00(0.93,1.07)	685	0.71(0.66,0.77)	0.83(0.72,0.95)	2,438	2.54(2.44,2.65)	0.95(0.89,1.02)	
West	7,977,694	1,559	1.95(1.86,2.05)	1.00(ref)	675	0.85(0.78,0.91)	1.00(ref)	2,234	2.80(2.69,2.92)	1.00(ref)	
Abbreviation N, number; PR, prevalence rate; aPRR, adjusted prevalence rate ratio; ref, reference. Adjusted for birth year, maternal age, residential area, geographical region, and infant sex. Numbers marked in bold indicate a statistically signifcant diference

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 1 shows the association between gastroschisis prevalence rates and selected demographic factors, adjusted for birth year, maternal residence, infant sex, and geographical region. Notably, higher PRs were observed 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, compared to 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 found in the eastern region, followed by the rates in the western or central regions. However, for non-isolated cases, 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 prenatally diagnosed defects. Non-isolated cases exhibited a higher percentage of TOPFA (87.75%) compared to isolated cases (70.95%). Among the 1161 live births with gastroschisis, adverse outcomes included 42.20% premature births, 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). Over the 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).

Table 2 Characteristics of 1,161 live birth cases with gastroschisis

	Isolated cases
(N = 1 025)	Non-isolated cases
(N = 136)	Total cases
(N = 1,161)	
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)	
<2,500	533 (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

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%) and chromosomal abnormalities (1.45%).

Table 3 Abnormalities associated with gastroschisis cases

System/ abnormalities	ICD-10	Cases	Percent	
Nervous system	Q00-Q07	865	40.46	
Spina bifida	Q05	329	15.39	
Anencephaly	Q00	227	10.62	
Encephalocele	Q01	167	7.81	
Eye, ear, face and neck	Q10-Q18	70	3.27	
Other congenital malformations of face and neck	Q18	31	1.45	
Congenital malformations of ear	Q16-Q17	24	1.12	
Circulatory system	Q20-Q28	257	12.02	
Congenital heart disease	Q20-Q26	193	9.03	
Malformations of cardiac septa	Q21	95	4.44	
Other congenital malformations of heart	Q24	77	3.60	
Other congenital malformations of peripheral vascular system	Q27	74	3.46	
Respiratory system	Q30-Q34	27	1.26	
Congenital malformations of lung	Q33	15	0.70	
Congenital malformations of nose	Q30	11	0.51	
Cleft lip and cleft palate	Q35-Q37	221	10.34	
Cleft palate with cleft lip	Q37	142	6.64	
Cleft lip	Q36	67	3.13	
Digestive system	Q38-Q45	65	3.04	
Congenital absence, atresia and stenosis of large intestine	Q42	51	2.39	
Other congenital malformations of intestine	Q43	6	0.28	
Genital organs	Q50-Q56	140	6.55	
Indeterminate sex and pseudohermaphroditism	Q56	118	5.52	
Urinary system	Q60-Q64	90	4.21	
Other cogenital malformation of urinary system	Q64	45	2.10	
Malformations of renal pelvis and ureter	Q62	18	0.84	
Musculoskeletal system	Q65-Q79	1,091	51.03	
Cogenital malformation of spine and bony thorax	Q76	466	21.80	
Limb deficiencies (reduction defects)	Q71-Q73	424	19.83	
Deformities of feet	Q66	236	11.04	
Chromosomal abnormalities	Q90-Q99	31	1.45	
Edward’s syndrome	Q91.0-Q91.3	13	0.61	
Down’s syndrome	Q90	7	0.33	
Patau’s syndrome	Q91.4-Q91.7	5	0.23	
Other malformations	Q80-Q89	69	3.23	
Other congenital malformations, not elsewhere classified	Q89	48	2.25	
Other specified congenital malformation syndromes affecting multiple systems	Q87	18	0.84	

Discussion

Based on the nationally representative CBDMN data, this study observed a significantly decreased prevalence of gastroschisis 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 those reported in countries in the North America [18–20] and South America [8], higher than those reported in most of 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 to heterogeneity in maternal race/ethnicity, geographical location, 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 United States found that the gastroschisis prevalence among fetuses/infants born to Non-Hispanic American Indian or Alaska Native mothers was nearly 3 times higher than that among fetuses/infants born to Non-Hispanic Asian or Pacific Islander mothers [18]. The inclusion of fetuses/infants with gastroschisis at a gestation age of less than 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 to 2017 [8]. A US population-based study reported a 30% increase in gastroschisis prevalence between 1995 and 2005 (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 from 2006 to 2015 [21], and in Sweden, England and Wales from 1974 to 1988 [26]. While it is widely accepted that gastroschisis is strongly associated with young maternal age [2, 9, 27], our results showed a decrease in prevalence across all maternal age categories. This suggests that the downward trend may be more attributable to advancements in socio-economic factors, such as improved socioeconomic status, folic acid supplementation, and enhanced diagnostic accuracy [22, 28, 29], rather than a decrease in maternal age. Given that the trend in this study contradicts those in most countries worldwide, it 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 found to have a higher likelihood of offspring with gastroschisis compared to the 25–29 year old age group, regardless of 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 of debate. Our study, consistent with some studies, found a 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 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 care access. 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 epidemiological studies 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 such as 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 were diagnosed in the first trimester [41]. This suggests that as ultrasound technology improves and becomes more widely available, more gastroschisis can be diagnosed prenatally. However, there remains a need to enhance sonographer 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, the overall gastroschisis prognosis is generally favorable, with survival rates exceeding 90% in the developed countries [43]. However, complex gastroschisis, which accounts for approximately 20% of cases and is characterized by intestinal complications such as perforation, stenosis, volvulus, atresia, or necrotizing enterocolitis, is associated with 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, low birth 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 and effective 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 al. [3], 17.64% reported by Fatih Aktoz et al. [50] and 27% reported by Maria Loane et al. [23], but lower than the 53.19% 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 by chromosomal disorders, a figure lower than the previous study (1.23%) [3]. This discrepancy could be due to most pregnant women opting out of further examinations after gastroschisis was confirmed via ultrasound.

This study’s strength lies in its use of extensive, high-quality 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 a declining trend in gastroschisis prevalence over the past 14 years. However, limitations include potential referral bias from hospital-based samples, mitigated by China’s 99% average hospital delivery rate. Additionally, regional disparities in medical capabilities may have led to under-recognition of LBW and Pentalogy of Cantrell cases, possibly inflating the prevalence rate.

Conclusions

This study sheds light on the evolving epidemiology of gastroschisis 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 elevated risk of experiencing adverse pregnancy outcomes. These findings underscore the pressing necessity to enhance family counseling, perinatal care, and the implementation of efficacious interventions.

Abbreviations

ICBDSR International Clearinghouse for Birth Defects Surveillance and Research

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 other participants involved in the birth defects monitoring network. The content of this article is solely the responsibility of the authors and do not represent the official view of the National Center for Birth Defects Monitoring.

Author contributions

YG performed statistical work and drafted the manuscript. WX, WL, ZC, ZL, and QL 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 of China (2017YFC0907304) and National Health Commission of China.

Data availability

The data in this study were obtained from the CBDMN, which is co-established by the National Health Commission of the People’s Republic of China and Sichuan University. The data used in this study are owned by National Health Commission of the People’s Republic of China, and the researchers did not obtain consent to publicly share these data. However, the identified 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 participants

This 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.

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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