Prevention and avoidance of congenital malformations

1988 ◽  
Vol 319 (1194) ◽  
pp. 309-314 ◽  
Keyword(s):  
Environmental Factors ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Chromosome Abnormality ◽  
Vitamin Supplementation ◽  
Congenital Dislocation ◽  
Dislocation Of The Hip

Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as ‘multifactorial’ as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in ‘high risk’ mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7 %) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect. If of all words of tongue and pen The saddest are, ‘It might have been’ More sad are these we daily see ‘It is but hadn’t ought to be’ Frances Brett, Mrs Judge Jenkins

scholarly journals Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes

2021 ◽  
Vol 6 (3) ◽  
pp. 71-77
Author(s):  
T. V. Khmara ◽  
◽  
M. O. Ryznychuk ◽  
N. B. Kuzniak ◽  
S. P. Melnychuk ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Congenital Malformations ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Chromosomal Abnormalities ◽  
Multiple Pregnancy ◽  
The Body ◽  
Craniofacial Anomalies ◽  
Hereditary Syndromes

Congenital abnormalities occur in 2-3% of all children and about 1% have hereditary syndromes or multiple malformations. About 30% of all cases have a cleft lip or palate. Genetic factors such as chromosomal abnormalities and gene mutations cause about 15% of congenital abnormalities; exogenous environmental factors cause about 10% of defects; a combination of genetic and environmental factors (multifactorial inheritance) cause 20-25%; multiple pregnancy causes 0.5-1% of congenital abnormalities. Craniofacial anomalies represent an important pediatric problem. They are among the leading causes of infant mortality and morbidity. Craniofacial anomalies mainly affect the development of the skull and facial bones. These defects range from mild to severe, which can be life-threatening and require immediate surgical intervention. Examination of patients with congenital cranial pathology is of particular importance, since a correct diagnosis can often be established only by taking into consideration all stigmas and malformations. The onset of pathology occurs during ontogenesis: normal embryonic development is disturbed under the influence of exogenous and endogenous factors, to which the body is particularly sensitive during critical periods. The consequences of various endogenous and exogenous factors are disruption of growth and development of the organism and occurrence of congenital malformations as an independent unit or occurrence of hereditary syndromes as a set of certain symptoms. Craniofacial syndromes can be divided into several groups. They are most often accompanied by premature fusion of cranial sutures (craniosynostosis) and syndromes with cleft formation. The most frequent syndromes in this group are: Crouzon syndrome, suture synostosis, microsomia, cerebral anomalies and midface clefts. These developmental disorders can lead to a variety of health consequences, namely affecting these patients’ respiratory health, appearance, brain development, hearing, vision, bite, speech, and mental development. Congenital malformations of the skull bones can be related to genetic mutations and environmental factors. Conclusion. Based on the analysis of the literature, a brief clinical characterization of the most common hereditary syndromes accompanied by cerebral and facial skull deformities is given, the type of inheritance and the gene mutation that causes these disorders are indicated

scholarly journals Multiple Cephalic Malformations in a Calf

Animals ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1532
Author(s):  
Di Muro G. ◽  
Cagnotti G. ◽  
Bellino C. ◽  
Capucchio M.T. ◽  
Colombino E. ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Presumptive Diagnosis ◽  
Intracranial Lesion ◽  
Median Cleft ◽  
The Central Nervous System ◽  
Similar Combination ◽  
Neurologic Findings

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, a flat face with a short snout, a median cleft lip, and increased intraorbital distance. The frontal region of the head was remarkable for a fluctuant, sac-like protrusion covered with haired skin. Neurologic findings suggested a multifocal intracranial lesion affecting the prosencephalon and the central vestibular system. While pathological and histopathological findings posited for a presumptive diagnosis of either hydranencephaly or holoprosencephaly associated with multiple congenital facial abnormalities, not all the findings could be definitely attributed to either of the two encephalic malformations alone. To our knowledge, a similar combination of severe congenital abnormalities affecting both the CNS and the craniofacial structures has not been reported in calves to date.

VITAMIN SUPPLEMENTATION FOR PREVENTION OF NEURAL TUBE DEFECT RECURRENCES

The Lancet ◽  
1983 ◽  
Vol 321 (8334) ◽  
pp. 1164-1165 ◽  
Author(s):  
G Rose ◽  
I.D Cooke ◽  
P.E Polani ◽  
N.J Wald
Keyword(s):  
Neural Tube ◽  
Neural Tube Defect ◽  
Vitamin Supplementation

Twins with Acardia and Anencephaly

1985 ◽  
Vol 34 (1-2) ◽  
pp. 89-93 ◽  
Author(s):  
L. Pavone ◽  
K.M. Laurence ◽  
T. Mattina ◽  
G. Nuciforo ◽  
F. Mollica
Keyword(s):  
At Risk ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Congenital Malformations ◽  
The Other ◽  
Fetal Malformation

AbstractThe authors describe a pair of twins, one of whom showed acardia while the other had severe neural tube defect including anencephaly. This is the first observation of a fetal malformation (anencephaly) in the cotwin of an acardius and confirms the fact that even the cotwin of an acardiac fetus may be at risk of severe congenital malformations.

scholarly journals Rare Association of Semilobar Holoprosencephaly and Frontonasal Encephalocoele in a Neonate of Twin Pregnancy

2021 ◽  
Author(s):  
Varsha Rangankar ◽  
Anmol Singh ◽  
Sanjay Khaladkar
Keyword(s):  
Neural Tube ◽  
Neural Tube Defect ◽  
Congenital Malformations ◽  
Twin Pregnancy ◽  
Dural Arteriovenous Fistula ◽  
Brain Parenchyma ◽  
Cerebral Hemispheres ◽  
Imaging Studies ◽  
Rare Association ◽  
Male Neonate

Holoprosencephaly is a rare intracranial malformation seen in newborns, resulting from a failure of separation of the forebrain into separate cerebral hemispheres. It is divided into three subtypes-alobar, semilobar and lobar. Encephalocele is a rare neural tube defect characterised by a defect in the cranial vault with herniation of brain parenchyma along with the overlying meninges. Author has reported a case of a male neonate born of a twin pregnancy to a 29-year-old primigravida presenting with a midline swelling in the frontal region. On imaging studies, the patient was diagnosed with semilobar holoprosencephaly and frontonasal encephalocele with dural arteriovenous fistula. Holoprosencephaly and encephalocoele are important congenital malformations; however association of the two conditions has been rarely described in the literature.

scholarly journals Neural tube defect recurrence after 'partial' vitamin supplementation.

1989 ◽  
Vol 26 (5) ◽  
pp. 326-329 ◽  
Author(s):  
S Sheppard ◽  
N C Nevin ◽  
M J Seller ◽  
J Wild ◽  
R W Smithells ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defect ◽  
Vitamin Supplementation

scholarly journals The prevention of neural tube defects by folic acid supplementation

Curationis ◽  
1993 ◽  
Vol 16 (4) ◽  
Author(s):  
H. W. Hitzeroth
Keyword(s):  
South Africa ◽  
Folic Acid ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Rural Areas ◽  
Congenital Abnormalities ◽  
Folic Acid Supplementation ◽  
Acid Supplementation

Neural tube defects, in particular spina bifida and anencephaly, are serious and relatively common congenital abnormalities worldwide. They also occur in South Africa and affect all population groups to varying degrees. The overall incidence in South Africa is approximately 1-2 per 1000 newborns. Higher incidences, up to 6 per 1000 newborns have been recorded in certain parts, especially in some rural areas of the country. In total as many as 1500 newborns could be affected by a neural tube defect each year. The precise aetiology of neural tube defects is still unknown.

scholarly journals Relation of Stress during Pregnancy with Congenital Malformations in Children Admitted in Various Clinical Settings in Lahore

2017 ◽  
Vol 23 (2) ◽  
Author(s):  
Shahbano Jawad ◽  
Awais Mustafa ◽  
Roman Akram
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Computer Software ◽  
Cross Sectional Study ◽  
Stress Disorders ◽  
Close Relative ◽  
Clinical Settings ◽  
Cross Sectional

<p><strong>Objectives:</strong><strong>  </strong>To study relation of stress in pregnancy and congenital malformations in newborns delivered at various hospitals of public sector in Lahore.<strong></strong></p><p><strong>Materials and Methodology:</strong><strong>  </strong>Descriptive cross sectional study design was used. The study was conducted at various clinical settings of Lahore for one month. Mothers of 40 malformed neonates were taken as sample. A data collection tool (a questionnaire) was developed and the mothers were interviewed regarding various type of stress such as poor socio-economic conditions, divorce and separation, death of a close relative, post dramatic stress disorders, serious illness, catastrophic events and pregnancy related stress including history of multiple miscarriages. Questionnaire was pretested before the data. SPSS computer software was used for entry, compilation and analysis of data.<strong></strong></p><p><strong>Results:</strong><strong>  </strong>Out of 40 subjects, 14 (35%) of mothers suffered from stress while 26 (65%) did not suffer from stress during pregnancy. Out of 14, 12.5% were having facial defects (cleft lip, cleft palate), 10% had neural tube defects while those with cvs, git, and urogenital defects were 7.5%. 2.5% and 2.5% respectively.</p><p><strong>Conclusion:</strong><strong>  </strong>This study suggests that prevalence of congenital malformations has a significant association with the events causing stress in life during pregnancy. Therefore it is one of the overlooked but important aggravating factor in the development of malfunctions. Out of 40 subjects 35% of mothers suffered from stresses like poor socioeconomic conditions, separation and deaths in the family. The number of conotruncal, or facial and neural tube defects was significantly higher in our subjects having stress.<strong></strong></p>

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