Congenital Anomalies in Twins in Aberdeen and Northeast Scotland

1983 ◽  
Vol 32 (1) ◽  
pp. 31-35 ◽  
Author(s):  
G. Corney ◽  
I. MacGillivray ◽  
D.M. Campbell ◽  
B. Thompson ◽  
J. Little

Data with regard to the proportion of congenital malformations found at birth are presented from a survey of 657 pairs of twins of known zygosity and placentation delivered in Aberdeen and Northeast Scotland between 1968 and 1979. There was an excess of malformed individuals from monozygotic (MZ) pairs, but this did not reach statistical significance. The possible effect of monochorionic placentation in the causation of malformations in MZ twins in general is discussed. It seems that this type of placentation may be of less causative importance than has been previously suggested.

Author(s):  
K. G. Sachin ◽  
K. R. Sachin ◽  
H. Ramesh ◽  
Guru Prasad ◽  
Harsha Bullapur

Background: A congenital anomaly may be defined in terms of physical structure as a malformation, an abnormality of physical structure or form usually found at birth or during the first few weeks of life. Congenital anomalies affect approximately 1 in 33 infants and result in approximately 3.2 million birth defect-related disabilities every year. Congenital anomalies or birth defects are relatively common, affecting 3% to 5% of live births in the United States (US) and 2.1% in Europe. Congenital anomalies account for 8% to 15% of perinatal deaths and 13% to 16% of neonatal deaths in India. Objectives: To provide an insight on the burden and types of surgical problems encountered in our NICU of Bapuji Child Health Institute & Research Center, JJM Medical College, Davangere, Karnataka, India and to study the incidence, clinical profile and outcome of surgical condition. Methodology: A total of 3820 babies were examined over a period of 2 years. The relevant information was documented on a semi-structured proforma and analysed. Results: Overall incidence of congenital malformations at birth was 24.8 per 1000 births. The GIT system (51.58%) was most commonly involved followed by respiratory system (26.32%). The incidence of congenital malformation was more in male babies than female babies. Increased frequency was seen in babies born to mothers between 26–30 years & primigravida. The factors which significantly increased the rate of congenital malformations were consanguinity in parents & bad obstetric history. Out of 95 cases, 72% got discharged normally, 18% died in NICU and 10% got discharged against medical advise. Conclusion: With emphasis on “small family” norms and population control it is necessary to identify malformations so that interventional programmes can be planned. Systematic clinical examination of newborns for early detection of anomalies that may warrant medical or surgical intervention. Accurate antenatal anomaly scan need to be done to identify major malformations and terminate the pregnancy.


2008 ◽  
Vol 11 (4) ◽  
pp. 474-477
Author(s):  
Nancy L. Segal

AbstractThe usefulness of monozygotic (MZ) twins for studying the efficacy of different face lift techniques is described. The data suggest that no particular procedure out of four under consideration is superior to any other. Next, reviews of recent twin studies of congenital anomalies, personality traits and coital orgasmic infrequency, and physical activity participation are presented. Finally, timely topics of public interest are also described. They include a rare birth consequence of artificial reproductive technology, an update on state legislation regarding parents' rights to decide the classroom placement of their young twins, and medical malpractice lawsuits involving premature twins.


2017 ◽  
Vol 29 (1) ◽  
pp. 36-50 ◽  
Author(s):  
Amelie T. van der Ven ◽  
Asaf Vivante ◽  
Friedhelm Hildebrandt

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%–20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans.


1998 ◽  
Vol 47 (3-4) ◽  
pp. 255-259 ◽  
Author(s):  
T. Zimoń ◽  
M. Walczak ◽  
J. Fydryk ◽  
A. Materna-Kiryluk ◽  
J. Mejnar-towicz ◽  
...  

AbstractThe authors have analysed the frequency and structure of congenital anomalies in children born in the Pomeranian district in the period from 01.07.1997 to 31.12.1998. Among a total of 28.361 births in that area, 748 (2.64%) were affected by congenital anomalies. Among 28.361 births, 620 (2.18%) were from multiple pregnancies. 23 (3.71%) among births from multiple pregnancies were affected by congenital malformations. The prevalence rate of inborn anomalies in births from multiple pregnancy in our area were higher (3.71%) in comparison to births from singleton pregnancy (2.61%). It implies that children born from multiple pregnancy are at higher risk of developing congenital anomalies.


2019 ◽  
Vol 6 (3) ◽  
pp. 1059
Author(s):  
Padmasani Venkat Ramanan ◽  
Rajesh Balan ◽  
Jyotsna Murthy ◽  
Syed Altaf Hussain

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association.  Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations.  Among the non-syndromic children, 9% had associated malformations.  The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies.  The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft.  The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.


2020 ◽  
Vol 15 (4) ◽  
pp. 110-113
Author(s):  
M.A. Aksel'rov ◽  
◽  
V.N. Evdokimov ◽  
V.V. Svazyan ◽  
T.V. Sergienko ◽  
...  

Considerable attention is currently being paid to the diagnosis and treatment of gastric malformations complicated by its obstruction. This can be attributed to stable incidence of these disorders among other congenital anomalies of the gastrointestinal tract and no clear understanding of the causes and mechanisms underlying the development of this pathology. Gastrointestinal duplications are rare congenital malformations that differ significantly in their appearance, location, size, and clinical manifestations. Their incidence is 1 case per 4,500 autopsies. Duplications can be cystic and diverticular (tubular) and can be located in any part of the gastrointestinal tract from the root of the tongue to the anal canal. The small intestine is affected most frequently, while duplications of the rectum, duodenum, and esophagus are exceedingly rare. In this article, we report two cases of gastrointestinal duplications in children treated using surgery. Key words: neonate, obstruction, developmental malformations, gastric duplication, esophageal duplication, case report


Author(s):  
I. I. Tunde-Oremodu ◽  
O. A. Okosun ◽  
U. Idholo ◽  
A. S. Ujuanbi ◽  
K. K. Odinaka ◽  
...  

Background: Congenital malformations (CM) are significant causes of childhood morbidity and mortality impacting negatively on the affected family’s emotional and financial life. It also results in an enormous burden on a nation’s health and socio-economic systems. However, few studies on CM have emanated from developing countries including Nigeria and specifically from Yenagoa, Bayelsa State which is located in the oil rich Niger Delta region. We therefore analyzed the prevalence, pattern and outcome of management of babies with CM seen at the Neonatal unit (SCBU) of the Federal Medical Centre, Yenagoa. This could be used as evidence for policy makers to develop and implement CM surveillance, prevention and supportive programs. Methods: This was a descriptive observational study of all neonates with CM admitted into the Special Care Baby Unit (SCBU) over a one year period from 1st February 2017 to 31st January 2018. Identification and confirmation of congenital anomalies was done by physical examination, diagnostic investigations and surgical interventions. The conditions were classified organ and system-wise except for the chromosomal abnormalities. The prevalence and pattern of defects were determined, while factors related to the outcome of the anomalies were calculated with odds ratio and 95% confidence interval. Data entry and analysis were performed using excel and SPSS version 22. Results: Among the 502 newborn admissions during the study period, congenital anomalies were found in 61 newborns, giving a prevalence rate of 12.2% with a female preponderance of 55.7%. The commonest CM were those related to the cardiovascular system (47.5%) followed by the digestive system (32.8%) then musculoskeletal system (19.7%). The mean duration of care was 9.7± 9.0 days with mortality of 30.5% recorded at that period. Babies with CM affecting the cardiovascular system and chromosomal anomalies were less likely to survive although these relationships were not statistically significant (p > 0.05). However, duration of care showed a statistically significant relationship with outcome as babies who spent one day and less in the neonatal unit  had  reduced odds of a favourable outcome (OR – 0.07). An increased odd of survival (OR – 2.09) was seen in babies with only one congenital birth defect. Conclusion: A high prevalence of Congenital malformations in newborns was demonstrated in this study. This has highlighted the need for a well-designed surveillance, prevention and supportive hospital, State and National programme for affected babies and their families.


1970 ◽  
Vol 40 (1) ◽  
pp. 7-12 ◽  
Author(s):  
K Fatemaq ◽  
F Begum ◽  
N Akter ◽  
SMM Zaman

Congenital anomalies make an important contribution to infant mortality and they remain a leading cause of death in many countries of the world. Many babies also died in our country due to congenital anomalies. So this study was done to find out proportion, types of congenital anomalies at birth and immediate outcome of anomalous neonates. This cross sectional study was carried out in the department of Obstetrics and Gynecology, Bangabandhu Sheikh Mujib Medical University (BSMMU) Hospital Shahbagh, Dhaka during the period January 2007 to December 2007. All the women giving birth to babies with congenital anomalies during this period were included. Types of congenital anomalies in neonates were recorded. Diagnosis of congenital anomalies was based on ultrasonography and clinical evaluation of the newborn was done by experienced neonatologist. During the study period 1630 patients delivered, of which 60 had congenitally malformed babies making the occurance of 3.68%. Neural tube defect was found to be the commonest (33.33%) type of anomaly. Among the most frequent NTD was hydrocephalus. DOI: http://dx.doi.org/10.3329/bmj.v40i1.9955 BMJ 2011; 40(1): 7-12


PEDIATRICS ◽  
1957 ◽  
Vol 19 (6) ◽  
pp. 1158-1158
Author(s):  
JOSEF WARKANY

This concise pathologic embryology appears at a time when pediatricians and many other medical specialists are showing an increased interest in congenital malformations and their origin. While most textbooks of embryology deal chiefly with normal development and treat malformations briefly, the presentation is reversed in this volume. Dr. Bremer, Hersey Professor of Anatomy, Emeritus, at Harvard University, who has been associated with the Boston Children's Hospital for many years, is an authority on normal and abnormal human embryology.


Author(s):  
Hiroshi Masaoka ◽  
Akira Ejiri

ABSTRACT Many rendering modes and types of software have been introduced as tools to aid in the prenatal detection of fetal anomalies. They aim at facilitating the diagnosis, increasing physicians’ confidence, and achieving a better understanding of these anomalies. The HDlive silhouette mode is a novel technology, which provides vitreous-like clarity of the fetus and placenta. Through using a shadowing effect, the outlines of structures of interest can be delineated clearly with a simultaneous display of the inner core and structure. It is more beneficial for identifying a normal anatomy and diagnosing complex congenital malformations. Moreover, the shadowing effect allows the operator to observe structures present behind the directly visualized structure, making it more advantageous than the recent advanced rendering modes, such as three-/fourdimensional ultrasound and HDlive. The contralateral side of the same structure and contralateral limbs can also be displayed. In this article, we highlight this rendering mode, focusing on its merits for the visualization of normal fetal structures as well as some congenital anomalies. How to cite this article AboEllail MAM, Kanenishi K, Marumo G, Masaoka H, Ejiri A, Hata T. Fetal HDlive Silhouette Mode in Clinical Practice. Donald School J Ultrasound Obstet Gynecol 2015;9(4):413-419.


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