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Journal of Perinatal Medicine Nov 2018
Topics: Aneuploidy; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 30422803
DOI: 10.1515/jpm-2018-0333 -
Cirugia Y Cirujanos 2015Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to... (Review)
Review
BACKGROUND
Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to identify this malformation. The purpose of this article is to present a case of gallbladder agenesis diagnosed during surgery, its management, and a review of the literature.
CLINICAL CASE
The case involves a sixty-two year- old female, referring to repeated biliary colic symptoms. The abdominal ultrasound diagnosed cholelithiasis. It was impossible to identify the gallbladder during surgery. Diagnosis was confirmed by intra-operative cholangiography.
DISCUSSION
Preoperative diagnostic workup has failed to recognise patients with gallbladder agenesis. It is currently recommended to abandon the surgery once this diagnosis is suspected and confirm it by a cholangio-magnetic resonance scan in order to avoid a bile duct injury.
CONCLUSIONS
Agenesis of the gallbladder is a rare congenital abnormality of the biliary tree. Every surgeon must keep this rare entity in mind when a "difficult dissection" or an anatomic variant is identified during surgery, and make use of an intra-operative cholangiography, mainly to prevent a bile duct injury.
Topics: Biliary Tract Diseases; Cholangiography; Cholecystectomy, Laparoscopic; Cholelithiasis; Colic; Congenital Abnormalities; Cystic Duct; Diagnostic Errors; Female; Gallbladder; Humans; Intraoperative Care; Middle Aged; Postoperative Complications; Ultrasonography
PubMed: 26162488
DOI: 10.1016/j.circir.2015.05.043 -
Acta Obstetricia Et Gynecologica... May 2022Several studies have reported on the maternal age-associated risks of congenital anomalies. However, there is a paucity of studies with comprehensive review of... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Several studies have reported on the maternal age-associated risks of congenital anomalies. However, there is a paucity of studies with comprehensive review of anomalies. We aimed to quantify the risk of birth defects in children born to middle-aged mothers compared with that in children born to young or older mothers.
MATERIAL AND METHODS
We classified maternal ages into three groups: young (<20 years old), middle (20-34 years old) and older age (≥35 years old). Observational studies that met our age criteria were eligible for inclusion. The articles searched using the Embase and MEDLINE databases were those published from 1989 to January 21, 2021. The Newcastle-Ottawa scale was used to assess the risk of bias. If heterogeneity exceeded 50%, the random effect method was used; otherwise, the fixed-effect method was used. Prospero registration number: CRD42021235229.
RESULTS
We included 15 cohort, 14 case-control and 36 cross-sectional studies. The pooled unadjusted odds ratio (95% CI) of any congenital anomaly was 1.64 (1.40-1.92) and 1.05 (0.95-1.15) in the older and young age groups, respectively (very low quality of evidence). The pooled unadjusted odds ratio of chromosomal anomaly was 5.64 (5.13-6.20) and 0.69 (0.54-0.88) in the older and young age groups, respectively. The pooled unadjusted odds ratio of non-chromosomal anomaly was 1.09 (1.01-1.17) and 1.10 (1.01-1.21) in the older and young age groups, respectively (very low quality of evidence). The incidence of abdominal wall defects was increased in children of women in the young maternal age group.
CONCLUSIONS
We identified that very low quality evidence suggests that women in the older maternal age group had increased odds of having children with congenital anomalies compared with those in the 20-34 year age group. There was no increase in odds of children with congenital anomalies in women of <20 year age group except for abdominal defects compared with those in the 20-34 year age group. The results stem from very low quality evidence with no adjustment of confounders.
Topics: Adult; Case-Control Studies; Child; Cohort Studies; Congenital Abnormalities; Cross-Sectional Studies; Female; Humans; Maternal Age; Middle Aged; Parturition; Pregnancy; Young Adult
PubMed: 35288928
DOI: 10.1111/aogs.14339 -
World Journal of Surgery Jan 2020Congenital anomalies have risen to become the fifth leading cause of under-five mortality globally. The majority of deaths and disability occur in low- and middle-income...
BACKGROUND
Congenital anomalies have risen to become the fifth leading cause of under-five mortality globally. The majority of deaths and disability occur in low- and middle-income countries including Ghana. This 3-year retrospective review aimed to define, for the first time, the characteristics and outcomes of neonatal surgical conditions in northern Ghana.
METHODS
A retrospective study was conducted to include all admissions to the Tamale Teaching Hospital (TTH) neonatal intensive care unit (NICU) with surgical conditions between January 2014 and January 2017. Data were collected on demographics, diagnosis and outcomes. Descriptive analysis was performed on all data, and logistic regression was used to predict determinants of neonatal mortality. p < 0.05 was deemed significant.
RESULTS
Three hundred and forty-seven neonates were included. Two hundred and sixty-one (75.2%) were aged 7 days or less at presentation, with males (n = 177, 52%) slightly higher than females (n = 165, 48%). The majority were delivered by spontaneous vaginal delivery (n = 247, 88%); 191 (58%) were born in hospital. Congenital anomalies accounted for 302 (87%) of the neonatal surgical cases and 45 (96%) deaths. The most common anomalies were omphalocele (n = 48, 13.8%), imperforate anus (n = 34, 9.8%), intestinal obstruction (n = 29, 8.4%), spina bifida (n = 26, 7.5%) and hydrocephalus (n = 19, 5.5%). The overall mortality rate was 13.5%. Two-thirds of the deaths (n = 30) from congenital anomalies were conditions involving the digestive system with gastroschisis having the highest mortality of 88%. Omphalocele (n = 11, 23.4%), gastroschisis (n = 7, 14.9%) and imperforate anus (n = 6, 12.8%) contributed to the most deaths. On multivariate analysis, low birthweight was significantly associated with mortality (OR 3.59, CI 1.4-9.5, p = 0.009).
CONCLUSION
Congenital anomalies are a major global health problem associated with high neonatal mortality in Ghana. The highest burden in terms of both caseload and mortality is attributed to congenital anomalies involving the digestive system, which should be targeted to improve outcomes.
Topics: Congenital Abnormalities; Female; Ghana; Humans; Infant; Infant Mortality; Infant, Newborn; Intensive Care Units, Neonatal; Male
PubMed: 31583459
DOI: 10.1007/s00268-019-05210-9 -
Ultrasound in Obstetrics & Gynecology :... Sep 2022
Topics: Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Care; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 36047740
DOI: 10.1002/uog.26040 -
Birth Defects Research Nov 2019While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have... (Review)
Review
BACKGROUND
While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few genome-wide association studies (GWAS) of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions.
METHODS
This article reviews the literature with regard to GWAS of structural birth defects. Key defects included in this review include oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. Additionally, other issues related to GWAS are considered, including the assessment of polygenic risk scores and issues related to genetic ancestry, as well as utilizing genome-wide single nucleotide polymorphism array data to evaluate gene-environment interactions and Mendelian randomization.
RESULTS
For some birth defects, including oral clefts and CHDs, several novel susceptibility loci have been identified and replicated through GWAS, including 8q24 for oral clefts, DGKK for hypospadias, and 4p16 for CHDs. Relatively common birth defects for which there are currently no published GWAS include neural tube defects, anotia/microtia, anophthalmia/microphthalmia, gastroschisis, and omphalocele.
CONCLUSIONS
Overall, GWAS have been successful in identifying several novel susceptibility genes and genomic regions for structural birth defects. These findings have provided new insights into the etiologies of these phenotypes. However, GWAS have been underutilized for understanding the genetic etiologies of several birth defects.
Topics: Cardiovascular Abnormalities; Congenital Abnormalities; Eye Abnormalities; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Musculoskeletal Abnormalities; Nervous System Malformations; Otorhinolaryngologic Diseases
PubMed: 31654503
DOI: 10.1002/bdr2.1606 -
Revista Espanola de Enfermedades... Aug 2016Agenesis of the dorsal pancreas is a rare malformation. Since 1911 and until 2008, 53 cases have been reported. Several authors have recently described the association... (Review)
Review
BACKGROUND
Agenesis of the dorsal pancreas is a rare malformation. Since 1911 and until 2008, 53 cases have been reported. Several authors have recently described the association of this anomaly with neoplasia of the ventral pancreas, thus we performed a systematic review of the literature from 2008 to 2015.
METHODS
A systematic review of the MedLine and ISI Web of Science Databases from 2008 until 2015 was carried out, and 30 articles which met the inclusion criteria were identified that included a total of 53 patients: 7 children and 46 adults.
CONCLUSIONS
Although dorsal pancreatic agenesis is a rare malformation, given its association with non-alcoholic pancreatitis and neoplasia of the residual pancreas, physicians should maintain an expectant attitude.
Topics: Adult; Child; Cholangiopancreatography, Endoscopic Retrograde; Congenital Abnormalities; Humans; Pancreas; Pancreatitis
PubMed: 27468966
DOI: 10.17235/reed.2016.4474/2016 -
Archives of Disease in Childhood. Fetal... Jul 2019Major congenital anomalies are often associated with perinatal mortality, long-term morbidity and prolonged hospitalisation. Prenatal ultrasound remains the principle... (Review)
Review
Major congenital anomalies are often associated with perinatal mortality, long-term morbidity and prolonged hospitalisation. Prenatal ultrasound remains the principle diagnostic test for many anomalies, but despite this up to one-third are only identified in the neonatal period. The primary step in determining underlying aetiology is to define accurately the phenotype by recognition of dysmorphology (both prenatally and postnatally). The potential introduction of next-generation sequencing, primarily through exome sequencing, into perinatal practice may improve the pathological diagnostic yield. However, clinicians must understand both the benefit and potential harms of this technology in facilitating the discovery of relevant pathogenic variants in the diagnosis and management of congenital malformations.
Topics: Congenital Abnormalities; Female; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Exome Sequencing
PubMed: 30816854
DOI: 10.1136/archdischild-2018-316352 -
American Journal of Obstetrics and... Jun 2021
Topics: Congenital Abnormalities; Female; Gynecology; History, 21st Century; Humans; New York; Obstetrics; Paris; Pregnancy; Ultrasonography, Prenatal
PubMed: 33823151
DOI: 10.1016/j.ajog.2021.03.042 -
World Journal of Surgery Jan 2015Surgically correctable congenital anomalies cause a substantial burden of global morbidity and mortality. These anomalies disproportionately affect children in low- and... (Review)
Review
Surgically correctable congenital anomalies cause a substantial burden of global morbidity and mortality. These anomalies disproportionately affect children in low- and middle-income countries (LMICs) due to sociocultural, economic, and structural factors that limit the accessibility and quality of pediatric surgery. While data from LMICs are sparse, available evidence suggests that the true human and financial cost of congenital anomalies is grossly underestimated and that pediatric surgery is a cost-effective intervention with the potential to avert significant premature mortality and lifelong disability.
Topics: Biomedical Research; Congenital Abnormalities; Cost-Benefit Analysis; Disabled Persons; Global Health; Humans; Income; Infant, Newborn; Poverty; Plastic Surgery Procedures
PubMed: 25135175
DOI: 10.1007/s00268-014-2714-9