scholarly journals Comparison of prenatal central nervous system abnormalities with postmortem findings in fetuses following termination of pregnancy and clinical utility of postmortem examination

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ozge Ozdemir ◽  
Figen Aksoy ◽  
Cihat Sen

Abstract Objectives In this study, we aimed to compare prenatal ultrasound (USG) and postmortem examination findings of central nervous system (CNS) abnormalities in fetuses following termination of pregnancy (TOP). Methods A total of 190 fetuses with USG-confirmed fetal CNS abnormalities of terminated pregnancies between January 2001 and January 2017 were retrospectively analyzed and USG and postmortem examination findings were compared. Results The most frequent CNS abnormalities were acrania/anencephaly (n=45, 24%), spina bifida (n=43, 23%), and ventriculomegaly (n=35, 18%). In 144 of the 190 (76%) cases, there was total agreement between USG and postmortem examination diagnosis. Postmortem examination provided minor findings which did not change the major clinical diagnosis in two (1%) cases with spina bifida and ventriculomegaly. In six (3%) cases, the diagnosis changed after postmortem examination. In 25 of the 190 (13%) cases with multiple abnormalities as evidenced by USG, CNS abnormality was unable to be confirmed at postmortem examination. Conclusions Our study results show an overall high agreement (76%) between USG and postmortem examination findings for CNS malformations. Due to autolysis and fluid structure, USG-confirmed CNS diagnosis cannot be always confirmed by postmortem examination. This potential discrepancy should be explained to patients before considering TOP. Postmortem examination is the gold standard to confirm prenatal diagnosis.

Author(s):  
Monika Equit ◽  
Justine Niemczyk ◽  
Anna Kluth ◽  
Carla Thomas ◽  
Mathias Rubly ◽  
...  

Abstract. Objective: Fecal incontinence and constipation are common disorders in childhood. The enteric nervous system and the central nervous system are highly interactive along the brain-gut axis. The interaction is mainly afferent. These afferent pathways include centers that are involved in the central nervous processing of emotions as the mid/posterior insula and the anterior cingulate cortex. A previous study revealed altered processing of emotions in children with fecal incontinence. The present study replicates these results. Methods: In order to analyze the processing of emotions, we compared the event-related potentials of 25 children with fecal incontinence and constipation to those of 15 control children during the presentation of positive, negative, and neutral pictures. Results: Children with fecal incontinence and constipation showed altered processing of emotions, especially in the parietal and central cortical regions. Conclusions: The main study results of the previous study were replicated, increasing the certainty and validity of the findings.


PEDIATRICS ◽  
1965 ◽  
Vol 35 (4) ◽  
pp. 589-595
Author(s):  
John Lorber

1. The family histories of 722 infants who were born with spina bifida cystica were studied. 2. The index cases were referred for surgical treatment and were not selected in any way from the genetic point of view. 3. Intensive inquiries were made to obtain a complete family pedigree, including a prospective follow-up of siblings born after the index case. 4. Of 1,256 siblings 85 or 6.8% had gross malformation of the central nervous system: spina bifida cystica in 54, anencephaly in 22, and uncomplicated hydrocephalus in 9. 5. Of 306 children born after the index case 25 (8%) or 1 in 12 were affected. 6. There was a progressive increase in multiple cases in the family with increasing family size. In sibships of five or more, multiple cases occurred in 24.1%. 7. In 118 families cases of gross malformation of the central nervous system were known to have occurred among members of the family other than siblings. Cases occurred in three generations. 8. It is possible that spina bifida cystica might be a recessively inherited condition.


1998 ◽  
Vol 1 (1) ◽  
pp. 42-48 ◽  
Author(s):  
H. Pinar ◽  
N. Tatevosyants ◽  
D.B. Singer

Congenital malformations of the central nervous system (CNS) are among the most common anomalies, but data on the incidence of CNS malformations in autopsy populations are scant. We examined 4122 autopsies between the years 1958 and 1995. There were 363 cases (8.8%) with CNS malformations; 235 were neonates and 128 stillborns. The overall gender ratio was 1:1, although more male neonates and more female stillborns had malformations. The body weights ranged from 24 to 6440 g. Neural tube defects were the most common types of malformations (45.5%) and included anencephaly, meningoencephalocele, meningocele/meningomyelocele, craniospinal rachischisis, and spina bifida occulta. The incidences of other malformations were: congenital hydrocephalus (12.4%), neuronal/glial proliferation disorders such as micro- and macrocephaly (8.8%), neuronal migration disorders (8.8%), prosencephalon growth disorders such as holoprosencephaly and arhinencephaly (8.5%), abnormalities of the midline structures such as agenesis of corpus callosum (4.1%), developmental cysts (3.3%), cerebellar malformations (3%), and vascular malformations (2%). Miscellaneous malformations (3%) consisted of acephalia in four cases with twin reversed arterial perfusion (TRAP), two cases of hydranencephaly, and four cases of rare degenerative and metabolic encephalopathies.


2012 ◽  
Vol 40 (S1) ◽  
pp. 104-104
Author(s):  
W. Dendas ◽  
B. De Keersmaecker ◽  
P. Moerman ◽  
F. Claus ◽  
N. El Handouni ◽  
...  

1974 ◽  
Vol 6 (2) ◽  
pp. 113-137 ◽  
Author(s):  
Dugald Baird

SummaryThe incidence of anencephalus and other malformations of the central nervous system (CNS) is much higher in the United Kingdom than in other countries of Western Europe which were not industrialized to the same extent. In the UK the incidence is highest in the unskilled manual occupational group, especially in the large cities of the North of England, Scotland and Northern Ireland. Standards of living have been low in these areas for many years and deteriorated sharply at the time of the worldwide industrial depression from 1928 to 1934. The population tended to be stunted in stature and to show other signs of chronic malnutrition.The cohort of women born in these years had an unusually high stillbirth rate from anencephalus (and from all other CNS malformations) from about 1946 onwards. It was highest in the early 1960s when these women were at the peak of their reproductive activity. This suggests that the severe malnutrition to which they were subjected before and soon after birth resulted in severe damage, which reduced their reproductive efficiency as demonstrated by the unusually high perinatal death rate from all CNS malformations. Not surprisingly the death rate rose sooner, lasted longer and reached a higher level in social classes IV and V than in social classes I and II. Other evidence of damage was an increase in the incidence of low birth weight babies with a corresponding increase in the perinatal death rate from this cause.In Scotland the stillbirth rate from anencephalus was approximately 2·1 per 1000 in 1948–49, 3·4 at its highest point between 1961 and 1963 and 2·1 in 1968, by which time the women born in the years of the depression had completed their childbearing. A teratogen acting during a particular period of time could not provide a satisfactory explanation for this sequence of events.


1969 ◽  
Vol 1 (1) ◽  
pp. 71-83 ◽  
Author(s):  
C. O. Carter

SummaryAnencephaly and spina bifida cystica, malformations of the central nervous system, are due to failure of closure of the neural tube. These malformations are a major cause of stillbirth, infant death and (in the case of spina bifida) of childhood morbidity in Britain today.Their aetiology is not known in detail. There are, however, indications from family studies and from the striking racial variation in their incidence (which is in part at least maintained after migration) that genetic factors are important in their causation. There is also evidence from maternal age and birth order effects, secular and seasonal variation, and social class effects that environmental factors also are important in their aetiology.


2007 ◽  
Vol 7 (4) ◽  
pp. 294-300 ◽  
Author(s):  
Selma Aličelebić ◽  
Alma Arslanagić ◽  
Zakira Mornjaković

Congenital anomalies of the central nervous system (CNS) are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4%) were female patients, while 47 (46,6%) were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%), congenital hydrocephalus (35 cases or 33,98%), arachnoid cyst (15 cases or 14,56%), Dandy-Walker syndrome (5 cases or 4,85%), dermoid cyst (4 cases or 3,88%), one of Arnold-Chiari syndrome (0,98%) and one of encefalocele (0,98%). According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%). The most frequent types were spina bifida (40,78%) both in females (22,33%) and in males (18,45%), hydrocephalus (33,98%) and arachnoid cyst (14,56%). The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%), equal in both sexes.


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