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Children (Basel, Switzerland) Dec 2020Gastroschisis, the most common type of abdominal wall defect, has seen a steady increase in its prevalence over the past several decades. It is identified, both... (Review)
Review
Gastroschisis, the most common type of abdominal wall defect, has seen a steady increase in its prevalence over the past several decades. It is identified, both prenatally and postnatally, by the location of the defect, most often to the right of a normally-inserted umbilical cord. It disproportionately affects young mothers, and appears to be associated with environmental factors. However, the contribution of genetic factors to the overall risk remains unknown. While approximately 10% of infants with gastroschisis have intestinal atresia, extraintestinal anomalies are rare. Prenatal ultrasound scans are useful for early diagnosis and identification of features that predict a high likelihood of associated bowel atresia. The timing and mode of delivery for mothers with fetuses with gastroschisis have been somewhat controversial, but there is no convincing evidence to support routine preterm delivery or elective cesarean section in the absence of obstetric indications. Postnatal surgical management is dictated by the condition of the bowel and the abdominal domain. The surgical options include either primary reduction and closure or staged reduction with placement of a silo followed by delayed closure. The overall prognosis for infants with gastroschisis, in terms of both survival as well as long-term outcomes, is excellent. However, the management and outcomes of a subset of infants with complex gastroschisis, especially those who develop short bowel syndrome (SBS), remains challenging. Future research should be directed towards identification of epidemiological factors contributing to its rising incidence, improvement in the management of SBS, and obstetric/fetal interventions to minimize intestinal damage.
PubMed: 33348575
DOI: 10.3390/children7120302 -
Colombia Medica (Cali, Colombia) 2021gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its... (Review)
Review
gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. To expand the frontier of knowledge about a malformation that has showed a growing global prevalence, we have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines.
Topics: Abdominal Wall; Female; Gastroschisis; Humans; Pregnancy; Prevalence; Risk Factors
PubMed: 35431359
DOI: 10.25100/cm.v52i3.4227 -
Birth Defects Research Nov 2019Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth...
BACKGROUND
Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014.
METHODS
Data from 39 U.S. population-based birth defects surveillance programs (16 active case-finding, 10 passive case-finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case-finding approach. Fourteen active case-finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time.
RESULTS
The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18.
CONCLUSION
National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination.
Topics: Adult; Cardiovascular Abnormalities; Central Nervous System Diseases; Congenital Abnormalities; Eye Diseases; Female; Genetic Diseases, Inborn; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Middle Aged; Musculoskeletal Diseases; Population Surveillance; Pregnancy; Prevalence; Registries; United States; Young Adult
PubMed: 31580536
DOI: 10.1002/bdr2.1589 -
Translational Pediatrics May 2021Abdominal wall defects are common congenital anomalies with the most frequent being gastroschisis and omphalocele. Though both are the result of errors during... (Review)
Review
Abdominal wall defects are common congenital anomalies with the most frequent being gastroschisis and omphalocele. Though both are the result of errors during embryologic development of the fetal abdominal wall, gastroschisis and omphalocele represent unique disorders that have different clinical sequelae. Gastroschisis is generally a solitary anomaly with postnatal outcomes related to the underlying integrity of the prolapsed bowel. In contrast, omphalocele is frequently associated with other structural anomalies or genetic syndromes that contribute more to postnatal outcomes than the omphalocele defect itself. Despite their embryological differences, both gastroschisis and omphalocele represent anomalies of fetal development that benefit from multidisciplinary and translational approaches to care, both pre- and postnatally. While definitive management of abdominal wall defects currently remains in the postnatal realm, advancements in prenatal diagnostics and therapies may one day change that. This review focuses on recent advancements, novel techniques, and current controversies related to the prenatal diagnosis and management of gastroschisis and omphalocele.
PubMed: 34189105
DOI: 10.21037/tp-20-94 -
Children (Basel, Switzerland) Feb 2021Gastroschisis and omphalocele reflect the two most common abdominal wall defects in newborns. First postnatal care consists of defect coverage, avoidance of fluid and... (Review)
Review
Gastroschisis and omphalocele reflect the two most common abdominal wall defects in newborns. First postnatal care consists of defect coverage, avoidance of fluid and heat loss, fluid administration and gastric decompression. Definitive treatment is achieved by defect reduction and abdominal wall closure. Different techniques and timings are used depending on type and size of defect, the abdominal domain and comorbidities of the child. The present review aims to provide an overview of current treatments.
PubMed: 33672248
DOI: 10.3390/children8020170 -
Journal of Neonatal Surgery 2017Closed gastroschisis is a rare entity usually associated with intestinal atresia and short bowel syndrome. We report two cases of closed gastroschisis presenting with...
Closed gastroschisis is a rare entity usually associated with intestinal atresia and short bowel syndrome. We report two cases of closed gastroschisis presenting with neonatal intestinal obstruction and para-umbilical evisceration without an abdominal defect.
PubMed: 28920021
DOI: 10.21699/jns.v6i3.599 -
JAMA Psychiatry Feb 2023Psychiatric disorders are common among female individuals of reproductive age. While antipsychotic medication use is increasing, the safety of such medications in...
IMPORTANCE
Psychiatric disorders are common among female individuals of reproductive age. While antipsychotic medication use is increasing, the safety of such medications in pregnancy is an area with large evidence gaps.
OBJECTIVE
To evaluate the risk of first-trimester antipsychotic exposure with respect to congenital malformations, focusing on individual drugs and specific malformation subtypes.
DESIGN, SETTING, AND PARTICIPANTS
This cohort study used data from nationwide health registers from the 5 Nordic countries and the US and spanned 1996 to 2018. The Nordic cohort included all pregnancies resulting in singleton live-born infants, and the US cohort consisted of publicly insured mothers linked to their live-born infants nested in the nationwide Medicaid Analytic eXtract. Data were analyzed from November 2020 to April 2022.
EXPOSURES
One or more first-trimester dispensing of any atypical, any typical, and individual antipsychotic drugs.
MAIN OUTCOMES AND MEASURES
Any major congenital malformation and specific malformation subtypes previously suggested to be associated with antipsychotic exposure in utero: cardiovascular malformations, oral clefts, neural tube defects, hip dysplasia, limb reduction defects, anorectal atresia/stenosis, gastroschisis, hydrocephalus, other specific brain anomalies, and esophageal disorders. Propensity score stratification was used to control for potential confounders. Pooled adjusted estimates were calculated using indirect standardization.
RESULTS
A total of 6 455 324 unexposed mothers (mean maternal age range across countries: 24-31 years), 21 751 mothers exposed to atypical antipsychotic drugs (mean age range, 26-31 years), and 6371 mothers exposed to typical antipsychotic drugs (mean age range, 27-32 years) were included in the study cohort. Prevalence of any major malformation was 2.7% (95% CI, 2.7%-2.8%) in unexposed infants, 4.3% (95% CI, 4.1%-4.6%) in infants with atypical antipsychotic drug exposure, and 3.1% (95% CI, 2.7%-3.5%) in infants with typical antipsychotic drug exposure in utero. Among the most prevalent exposure-outcome combinations, adjusted relative risks (aRR) were generally close to the null. One exception was olanzapine exposure and oral cleft (aRR, 2.1 [95% CI, 1.1-4.3]); however, estimates varied across sensitivity analyses. Among moderately prevalent combinations, increased risks were observed for gastroschisis and other specific brain anomalies after atypical antipsychotic exposure (aRR, 1.5 [95% CI, 0.8-2.6] and 1.9 [95% CI, 1.1-3.0]) and for cardiac malformations after chlorprothixene exposure (aRR, 1.6 [95% CI, 1.0-2.7]). While the association direction was consistent across sensitivity analyses, confidence intervals were wide, prohibiting firm conclusions.
CONCLUSIONS AND RELEVANCE
In this study, considering the evidence from primary and sensitivity analyses and inevitable statistical noise for very rare exposure-outcome combinations, in utero antipsychotic exposure generally was not meaningfully associated with an increased risk of malformations. The observed increased risks of oral clefts associated with olanzapine, gastroschisis, and other specific brain anomalies with atypical antipsychotics and cardiac malformations with chlorprothixene requires confirmation as evidence continues to accumulate.
Topics: Pregnancy; Infant; Female; Humans; Young Adult; Adult; Antipsychotic Agents; Cohort Studies; Olanzapine; Chlorprothixene; Gastroschisis; Abnormalities, Drug-Induced; Heart Defects, Congenital; Scandinavian and Nordic Countries
PubMed: 36477338
DOI: 10.1001/jamapsychiatry.2022.4109 -
World Journal of Surgery 1993It has been widely acknowledged that exomphalos and gastroschisis are two different clinical entities. Their etiology and pathogenesis, however, remain controversial.... (Review)
Review
It has been widely acknowledged that exomphalos and gastroschisis are two different clinical entities. Their etiology and pathogenesis, however, remain controversial. Several techniques are available for making a prenatal diagnosis of these as well as many other malformations. Some prenatal treatment is possible, but operative management is the more usual course. In most cases, of omphalocele and gastroschisis, treated either conservatively or by any kind of surgery, intensive care is mandatory to support nutrition and often ventilation as well. Enteral nutrition at an early stage during the postoperative period might lead to bouts of necrotizing enterocolitis requiring aggressive medical treatment and sometimes even operative treatment.
Topics: Abdominal Muscles; Female; Hernia, Umbilical; Humans; Infant, Newborn; Intestines; Pregnancy
PubMed: 8337880
DOI: 10.1007/BF01658701