Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity.

Am J Med Genet

Division of Population Science, Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Published: November 1992

On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, omphalocele (OM) and gastroschisis (GA) are considered casually and pathogenetically distinct abdominal wall defects. More than 50% of infants with OM have additional defects, but only about 15% of those with GA do. To evaluate whether there is heterogeneity between isolated and multiply affected cases of OM and GA, we analyzed epidemiologic characteristics and familial risks of major defects for 82 OM and 81 GA cases drawn from a population-based study in the Maryland-Washington, DC-Northern Virginia area and born from 1980 through June 1987. We examined year of birth, sex, race, and maternal age distributions after stratifying the infants into isolated and multiple defect groups. We found significant differences in maternal age between cases with isolated OM and GA, but not between cases with GA or OM who had other defects. Using regressive logistic models, we analyzed familial aggregation of birth defects among relatives of infants with OM and GA. An autosomal recessive model of inheritance was found to be the most parsimonious explanation for the families of infants with isolated OM or GA. However, for families of infants with multiple defects, a sporadic or nongenetic model fit best. These findings are not only useful for estimating familial risk of major birth defects, but they also suggest further heterogeneity of infants with OM and GA according to the presence of other malformations.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.1320440528DOI Listing

Publication Analysis

Top Keywords

omphalocele gastroschisis
8
epidemiologic characteristics
8
maternal age
8
infants isolated
8
birth defects
8
families infants
8
defects
7
infants
6
genetic-epidemiologic study
4
study omphalocele
4

Similar Publications

Article Synopsis
  • Gastroschisis and omphalocele are common abdominal wall defects in newborns that can lead to serious health issues, and managing them effectively remains a challenge despite surgical advancements.!
  • The retrospective study at Tikur Anbessa Specialized Hospital examined 50 neonates with these defects between August 2018 and August 2022, noting a higher incidence of associated malformations in omphalocele cases compared to gastroschisis.!
  • Results indicated a higher mortality rate in gastroschisis cases (11 deaths) compared to omphalocele, with sepsis being the main cause of death, highlighting the need for improved management strategies in neonatal care.!
View Article and Find Full Text PDF

Outcomes of Gastroschisis and Omphalocele Treated at Children's Surgery Verified Centers in Texas.

J Surg Res

December 2024

Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas; Division of Pediatric Surgery, Department of Surgery, Texas Children's Hospital, Houston, Texas. Electronic address:

Introduction: Anterior abdominal wall defects (AWDs), such as gastroschisis or omphalocele, are often diagnosed prenatally and counseled to deliver at facilities with resources capable of managing their AWD and complex-associated anomalies. The American College of Surgeons instituted their Children's Surgery Verification (CSV) program to identify facilities with the optimal resources for pediatric surgical care. We aimed to evaluate the impact of CSV status on the outcomes of AWD and potential health disparities in the care of AWD in the first year of life in Texas.

View Article and Find Full Text PDF

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.

World J Pediatr

November 2024

National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.

Background: Birth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.

Methods: We analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021, we calculated the prevalence rates of selected birth defects, stratified by maternal residence, geographic region, maternal age, and infant sex. The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.

View Article and Find Full Text PDF

Introduction: Congenital anomalies are one of the major causes of the global burden of diseases, and low- and middle-income countries (LMICs) are disproportionately affected. This review assesses the prenatal and postnatal screening methods and compares the prevalence of major congenital anomalies in LMICs.

Methodology: We conducted a systematic search in MEDLINE/PubMed, CINAHL, Cochrane databases of systematic reviews, clinical trials.

View Article and Find Full Text PDF
Article Synopsis
  • Malrotation is a congenital condition that can lead to serious bowel issues, often diagnosed by age 1, but can sometimes be identified prenatally through imaging techniques.
  • A 30-year-old woman had her routine ultrasound reveal signs of malrotation in her fetus, confirmed postnatally, leading to a successful laparoscopic surgery called the Ladd's procedure shortly after birth.
  • This case shows that malrotation can indeed be spotted before birth and that preventive surgery can be safely done in newborns, reducing the risk of complications like midgut volvulus.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!