Major congenital neurologic malformations: a 17-year survey

Article Abstract:

Among the most serious childhood illnesses are those caused by major neurologic malformations which include neural tube defects. Four of these conditions are anencephaly (absence of brain and spinal cord), spina bifida (defect in the spinal column and vertebra), encephalocele (protrusions of the brain through the skull), and hydrocephalus (fluid in the brain). A 17-year study was conducted to evaluate the incidence of these deformities with attention to seasonal, racial and sexual aspects, and geographic differences. The patients studied consisted of 763,364 live-born and still-born infants. There were 1,283 babies with one of these four conditions, and out of this number, 175 stillbirths occurred. The data collected may be valuable in planning health care services for survivors; for use in prenatal screening and counseling; and for planning transplants using organs from these infants. Despite some reports that these diseases are declining in frequency, this study found a significant decline only in the children of white females. Anencephaly, spina bifida, and encephalocele were predominant in female infants; hydrocephalus was more common in male infants. Black babies were less likely to contract spina bifida than infants of other races. No significant seasonal variations were found. The only significant statistical variation was that patients in the Pacific region had a higher incidence of hydrocephalus and encephalocele. Victims of these disorders frequently had other unrelated congenital anomalies. Additional congenital anomalies accompanied 20 percent of anencephaly cases, 40 percent of encephalocele cases, 37 percent of hydrocephalus cases, and 22 percent of all spina bifida cases also had other complications. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Statistics, Pediatric diseases, Neural tube, Neural tube defects, Pediatric neurology, Hydrocephalus in children, Hydrocephalus

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Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome

Article Abstract:

Hypoplastic left-heart syndrome (HLHS) is a congenital malformation of the heart. Infants with this condition are born with an underdeveloped left ventricle (a heart chamber), a narrowed aorta (the large vessel of the heart) and a narrowed mitral valve (the valve separating the two left heart chambers). The condition is fatal without surgical intervention or heart transplant. It was originally thought that the combination of genetic and environmental factors influence the development of HLHS; this is known as the multifactorial theory. The rate at which the defect is seen to recur within families is three percent. However, the frequency of heart defects in siblings was higher than that predicted by the multifactorial model. To determine whether there might be a genetic influence on the malformation, the relatives of 11 infants born with HLHS alone and three with HLHS in combination with nonheart malformations were studied. Echocardiography, a diagnostic tool that uses sound waves directed at the heart to produces an image of the heart muscle, was able to detect five heart defects among the 41 relatives of infants with HLHS malformations alone, but no malformations in the relatives of the infants with HLHS and another anomaly. The relatives of infants born with HLHS had more heart defects that previously thought. The higher rate of left-sided heart defects may be a chance occurrence in this particular family, or it may be a consequence of specific genes. Extensive genetic testing is needed to further test this hypothesis. (Consumer Summary produced by Reliance Medical Information, Inc.)

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Congenital cardiovascular malformations in twins and triplets from a population-based study

Article Abstract:

Congenital cardiovascular malformation (CCVM), a structurally abnormal heart present at birth, occurs more often in multiple pregnancies (particularly those where the twins or triplets are of the same sex) than in single-fetus (singleton) pregnancies. Although it is unclear why this happens, the twinning process of a single fertilized egg (monozygote) itself may cause the defect. The number and types of these malformations among 62 twins, three triplets and 2,303 singletons were studied. Most of the CCVMs were found in girl twins rather than single fetuses. CCVM occurred more often in twins originating from a single fertilized egg (identical twins). Looping abnormalities, abnormal placement of great blood vessels leading from the heart, were present in four of the single-egg (monozygotic) twins, compared with only one in twins derived from separate eggs (dizygotic). These findings further support the theory that the twinning process itself contributes to the development of CCVM. Four out of 65 twin pairs had similar defects, suggesting that certain cardiovascular malformations that occur from birth are determined by genetic factors. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, Physiological aspects, Twins, Triplets

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