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American Journal of Medical Genetics.... Nov 2020Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic...
Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.
Topics: Abnormalities, Multiple; Adult; Anus, Imperforate; Cloaca; Congenital Abnormalities; Female; Gastroschisis; Hernia, Umbilical; Humans; Infant, Newborn; Male; Maternal Age; Pregnancy; Registries; Software; Spine; Texas; Young Adult
PubMed: 32885608
DOI: 10.1002/ajmg.a.61830 -
BMC Pregnancy and Childbirth Jun 2023The objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine,...
BACKGROUND
The objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types.
METHODS
Using Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019.
RESULTS
During the period of the study, our unity registered 4,260 births, 4,064 were live births and 196 stillbirths. There were 737 diagnoses of any congenital malformation, among them 38 cases of omphalocele, 27 were live born, but one was excluded for missing data. 62.2% were male, 62.2% of the women were multiparous and 51.3% of the babies were preterm. There was an associated malformation in 89.1% of the cases. Heart disease was the most common (45.9%) of which tetralogy of Fallot was the most frequent (23.5%). Mortality rate was 61.5%.
CONCLUSIONS
Our data showed a good correspondence with the existing literature. Most patients with omphalocele had other malformations, especially congenital heart disease. No pregnancy was interrupted. The presence of concurrent defects showed a huge impact on prognosis, since, even if most survived birth, few remained alive and received hospital discharge. Based on these data, fetal medicine and neonatal teams must be able to adjust parents counseling about fetal and neonatal risks, especially when other congenital diseases are present.
Topics: Infant, Newborn; Child; Pregnancy; Humans; Male; Female; Hernia, Umbilical; Tertiary Care Centers; Retrospective Studies; Cross-Sectional Studies; Brazil; Heart Defects, Congenital; Congenital Abnormalities; Prevalence
PubMed: 37286958
DOI: 10.1186/s12884-023-05741-z -
Pediatrics and Neonatology Jul 2022
Topics: Gastrointestinal Diseases; Hernia, Umbilical; Humans; Rupture
PubMed: 35396198
DOI: 10.1016/j.pedneo.2022.03.002 -
Pediatric Surgery International Jun 2018Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented.
BACKGROUND
Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented.
AIM
To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution.
MATERIALS AND METHODS
Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016.
RESULTS
A total of 42 cases with prenatally diagnosed omphalocele were identified. Of those 14 (31%) decided to terminate the pregnancy (TOP). Of the remaining 28 that continued, 12 were giant omphaloceles. The overall mortality rate was 18, 25% for giant and 12% for non-giant omphaloceles. 64% had associated anomalies. Only 1/3 of these anomalies is diagnosed prenatally.
CONCLUSION
The rate of associated malformations that are diagnosed postnatally is high, but the majority was malformations with a minor clinical significance or impact on future health. Beckwith-Wiedemann syndrome was present only in cases of non-giant omphalocele in our cohort.
Topics: Abnormalities, Multiple; Abortion, Induced; Adult; Chromosome Disorders; Female; Hernia, Umbilical; Humans; Infant; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Young Adult
PubMed: 29637257
DOI: 10.1007/s00383-018-4265-x -
Archives of Disease in Childhood Apr 1956
Topics: Child; Fetal Diseases; Hernia, Umbilical; Humans; Infant; Umbilicus
PubMed: 13314678
DOI: 10.1136/adc.31.156.144 -
Gastroenterologie Clinique Et Biologique 2006
Review
Topics: Anti-Inflammatory Agents, Non-Steroidal; Ascites; Ascitic Fluid; Diuretics; Dopamine Antagonists; Hepatorenal Syndrome; Hernia, Umbilical; Humans; Liver Cirrhosis; Liver Transplantation; Metoclopramide; Mineralocorticoid Receptor Antagonists; Punctures; Randomized Controlled Trials as Topic; Recurrence; Spironolactone; Vasodilator Agents
PubMed: 16885871
DOI: 10.1016/s0399-8320(06)73334-6 -
World Journal of Gastroenterology Aug 2021Approximately 20% of cirrhotic patients with ascites develop umbilical herniation. These patients usually suffer from multisystemic complications of cirrhosis, have a... (Review)
Review
Approximately 20% of cirrhotic patients with ascites develop umbilical herniation. These patients usually suffer from multisystemic complications of cirrhosis, have a significantly higher risk of infection, and require accurate surveillance- especially in the context of the coronavirus disease 2019 pandemic. The rupture of an umbilical hernia, is an uncommon, life-threatening complication of large-volume ascites and end-stage liver disease resulting in spontaneous paracentesis, also known as Flood syndrome. Flood syndrome remains a challenging condition for clinicians, as recommendations for its management are lacking, and the available evidence for the best treatment approach remains controversial. In this paper, four key questions are addressed regarding the management and prevention of Flood syndrome: (1) Which is the best treatment approach-conservative treatment or urgent surgery? (2) How can we establish the individual risk for herniation and possible hernia rupture in cirrhotic patients? (3) How can we prevent umbilical hernia ruptures? And (4) How can we manage these patients in the conditions created by the coronavirus disease 2019 pandemic?
Topics: Ascites; COVID-19; Floods; Hernia, Umbilical; Humans; Liver Cirrhosis; SARS-CoV-2
PubMed: 34539133
DOI: 10.3748/wjg.v27.i32.5297 -
Pediatric Surgery International Jul 2021Several studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true...
PURPOSE
Several studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD.
METHODS
All male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Register for Health Care. The register data were examined for relevant UDT diagnosis and operation codes.
RESULTS
We identified 99 males with gastroschisis and 89 with omphalocele. UDT was diagnosed in 10 (10.1%) infants with gastroschisis and 22 (24.7%) with omphalocele. Majority of these required an operation; 8/99 (8.1%) gastroschisis and 19/89 (21.3%) omphalocele patients. UDT is more common among AWD patients than general population with the highest prevalence in omphalocele.
CONCLUSIONS
Cryptorchidism is more common among boys with an AWD than general population. Furthermore, omphalocele carries significantly higher risk of UDT and need for orchidopexy than gastroschisis. Due to high prevalence testicular maldescent, careful follow-up for UDT is recommended.
Topics: Abdominal Wall; Cryptorchidism; Finland; Hernia, Umbilical; Humans; Infant; Male; Population Surveillance; Prevalence; Registries
PubMed: 33517489
DOI: 10.1007/s00383-021-04863-9 -
European Journal of Pediatrics Dec 2023Normal childhood growth is an indicator of good health, but data addressing the growth of children born with abdominal wall defects (AWDs) are limited. The detailed...
UNLABELLED
Normal childhood growth is an indicator of good health, but data addressing the growth of children born with abdominal wall defects (AWDs) are limited. The detailed growth phenotypes of children born with gastroschisis or omphalocele are described and compared to peers without AWDs from birth to adolescence. Data from 183 gastroschisis and 144 omphalocele patients born between 1993 and 2017 were gathered from Finnish nationwide registers and electronic health records. Weight (n = 3033), length/height (n = 2034), weight-for-length (0-24 months, n = 909), and body mass index measures (2-15 years, n = 423) were converted into sex- and age-specific Z-scores. Linear mixed models were used for comparisons. Intrauterine growth failure was common in infants with gastroschisis. Birth weight Z-scores in girls and boys were - 1.2 (0.2) and - 1.3 (0.2) and length Z-scores - 0.7 (0.2) and - 1.0 (0.2), respectively (p < 0.001 for all comparisons to infants without AWDs). During early infancy, growth failure increased in infants with gastroschisis, and thereafter, catch-up growth was prominent and faster in girls than in boys. Gastroschisis children gained weight and reached their peers' weights permanently at 5 to 10 years. By 15 years or older, 30% of gastroschisis patients were overweight. Infants with omphalocele were born with a normal birth size but grew shorter and weighing less than the reference population until the teen-age years.
CONCLUSION
Children with gastroschisis and omphalocele have distinct growth patterns from fetal life onwards. These growth trajectories may also provide some opportunities to modulate adult health.
WHAT IS KNOWN
• Intrauterine and postnatal growth failure can be seen frequently in gastroschisis and they often show significant catch-up growth later in infancy. It is assumed that part of the children with gastroschisis will become overweight during later childhood.
WHAT IS NEW
• The longitudinal growth of girls and boys with gastroschisis or omphalocele is described separately until the teenage years. The risk of gaining excessive weight in puberty was confirmed in girls with gastroschisis.
Topics: Infant; Male; Pregnancy; Child; Adult; Female; Adolescent; Humans; Gastroschisis; Hernia, Umbilical; Overweight; Birth Weight; Fetal Growth Retardation
PubMed: 37819418
DOI: 10.1007/s00431-023-05217-4 -
Journal of the National Medical... Jul 1950
Topics: Hernia; Hernia, Umbilical; Humans
PubMed: 15428893
DOI: No ID Found