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Amniocentesis, introduced 40 years ago, has become a commonly performed obstetric procedure. Its applications, originally related to Rh isoimmunization, have been expanded to include assessment of fetal maturity and prenatal genetics. The maternal complications of this procedure have been stressed for some time, but with increasing frequency fetal complications are being observed. This report reviews the maternal and fetal complications of amniocentesis and illustrates the potential fetal morbidity with a case report of a tension pneumothorax in a neonate resulting from fetal puncture during diagnostic amniocentesis. [ABSTRACT FROM AUTHOR]

GM[sub 1] gangliosidosis, type 2 is a familial disorder of sphingolipid metabolism characterized by progressive and unrelenting neurologic deterioration leading to death within the first decade of life. Amniotic fluid cells obtained early in the second trimester of a pregnancy at risk for this disease were shown to be deficient in β-galactosidase activity. On the basis of these results, the parents elected to terminate the pregnancy. Examination of the fetal tissues revealed marked deficiency of β-galactosidase activity, increased cerebral GM[sub 1] ganglioside and abnormal hepatic lysosomes confirming the diagnosis of GM[sub 1] gangliosidosis, type 2. [ABSTRACT FROM AUTHOR]

The article discusses the role of advances in treatment in preventing autosomal recessive diseases. Some of the methods applied to prevent these diseases include intra-uterine diagnosis and subsequent abortion of affected fetuses. Moreover, the author believes that better methods will be discovered to prevent these diseases from occurring like the selection at the level of the gamete. He further emphasizes that the prevention of birth by abortion may be appropriate to avoid these diseases. As an example, he cites the diagnosis of Tay-Sachs disease in utero. If the disease is seen in the fetus, the diagnosis will be followed by abortion.

Amniotic fluid cells obtained by transabdominal amniocentesis at various stages of pregnancy were successfully cultivated. The intra-uterine detection of Down's syndrome, galactosemia, and mucopolysaccharidosis was established utilizing the cultivated amniotic fluid cells. The use of this procedure increases the precision of genetic counseling and should stimulate the development of new approaches for the intra-uterine management of genetic defects. However, until considerably more experience is gained with these techniques, these procedures should be considered experimental in nature. [ABSTRACT FROM AUTHOR]

The standard uses of maps are still apt but are now partly overshadowed by the potential use for extending the scope of prenatal diagnosis. The techniques of amniocentesis of cell culture of amniotic cells, and of the biochemical and cytogenetic assay of genetic lesions in those cells have improved rapidly in recent years. They now permit the diagnosis of many of these lesions at a stage of fetal life when abortion might still be considered. The prenatal diagnosis could be achieved for other genetic lesions that are not directly discernible in the amniotic cells or fluid by indirect mearm through the amniotic phenotype for a closely linked locus.

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The article presents updates on publications related to family relations in the U.S. as of May 1942. The American Social Hygiene Association has republished a summary of state legislation requiring premarital and prenatal examinations for venereal diseases by Aneta E. Bowden in a revised edition by George Gould. The Commission on Marriage and the Home has put out a new four-page folder entitled Good Homes. The Federal Council, the International Council of Religious Education and the United Council of Church Women propose the observance of Christian Family Week beginning with the first Sunday in May and ending with the second Sunday, May 10 or Mother's Day. The Committee of the Good Will Fund and the Twentieth Century Fund has sponsored the preparation and publication of four pamphlets on the costs of medical care and plans of voluntary health insurance. A symposium on Mental Hygiene and National Defense appears in the January 1942 issue of Mental Hygiene. The National Citizens Committee announces the publication of the White House Conference on Children in a Democracy.

This article focuses on the study related to convulsions in mentally retarded children. Very few workers have mentioned the age of onset of convulsions in mental retardation or cerebral palsy of prenatal or natal origin. Researchers found that convulsions first occurred at or after the age of six years in 10 of 82 children (12.2 per cent). In the slightly or moderately retarded children, there was little difference between the incidence of fits in those with or without cerebral palsy, the overall figures being 22.8 and 16.3 per cent respectively. Within this group there was no significant difference between the percentage of fits in those born prematurely.

The article presents statistical analysis of the sex differences in the prenatal human deciduous molar crown size. The purpose was also to determine whether differences do exist. Tooth buds from 69 human fetuses in the circumstantial age group were examined. Article topics include stereoscopic microscopy and differences in the variances of the two groups.

The article discusses tooth development and examines the prenatal factors such as fever which influence tooth development. Details are provided about a study which artificially produced fever conditions in prenatal rats to determine fever's impact on dentition. The effects of fever on amelogenesis, dentin, and odontoblasts are also explored.

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The article focuses on the significance of the advancement in cytogenetics and biochemistry with the introduction of the prenatal detection of genetical defects. The author explains that this progress paves the way to the possibility of diagnosing conditions associated with chromosomal defects and enzymopathies through the examination of cells. She explains that cells from the fetus can be obtained from the amniotic fluid, which can be obtained by amniocentesis. She claims that amniocentesis contributes to a new dimension to genetical counseling.

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Discusses the selective treatment for myelomeningocele in infants. Significance of antenatal diagnosis in preventing the incidence of the disease at birth; Criteria on the variance of treatment administration to patients; Arguments on the effectivity of the treatment.

The article reflects on genetic counseling, a process of advising patients about the nature of the inherited disorder. The prenatal genetic counseling stresses inherited disorder as disproportionate. Prenatal diagnostic procedures have been developed, where about 30 biochemical diseases and virtually all chromosomal abnormalities will be diagnosed with certainty through cell cultures. Furthermore, the diagnostic procedures pose psychological and sociomedical problems.

Comments on the use of diagnostic amniocentesis for the detection of the early stages of human metabolic disease. Methods for the intra-uterine detection of familial metabolic disorders; Effective method for prevention of many diseases resulting in disability and death in infancy.

The article presents a study on the causes of cerebral palsy and mental retardation in children. The program is useful in collecting information on all factors that might cause cerebral palsy and other neurological disorders. The program was undertaken over a period of five years which involves the collection of data starting from early pregnancy until the early years of the children. The project was based on the research studies which suggest that cerebral palsy and mental retardation occurs during the pregnancy period and a month after the child is born.

An abstract of the article "Antenatal Identification of Women Liable to Have Problems in Managing Their Infants," by Eva A. Frommer and Gillian O'Shea is presented. A group of British-born married primigravidae who had been separated from parents before the age of 11 were matched for age and social class by a group of controls who denied such separations. In many respects, statistically significant differences were found between the two groups.