Antenatal detection of severe central nervous system defects.
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Biomedical subjects
Publications and source records attributed to M M Nelson.
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Hurler's syndrome was diagnosed antenatally in the two consecutive pregnancies of a mother with one affected child. In both instances, diagnosis was based upon a demonstration of the presence of unusual glycosaminoglycan components in the amniotic fluid, of abnormal metabolic activity in cultured amniotic fluid cells, and a deficiency of the lysosomal enzyme alpha-L-iduronidase in these cell homogenates. Bothe pregnancies were terminated before the 24th week and the diagnosis was confirmed by biochemical studies of the fetal livers.
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Twelve sets of conjoined twins have been born in Southern Africa since February 1974. This possibly represents a significant increase in the incidence of Siamese twinning and may be the result of unknown environmental agents. Several of the sets of twins were diagnosed antenatally. In view of the current circumstances a high index of suspicion is probably justified in the presence of maternal hydramnios or fetal malpresentation.
In the congenital nephrotic syndrome (Finnish type), concentrations of alpha fetoprotein in the amniotic fluid and maternal serum are markedly elevated in the second trimester of pregancncy. Demonstration of this alteration allows early prenatal diagnosis of this fatal condition and elective termination of the pregnancy before 20 week's gestation.
Eleven sets of conjoined twins have been born in Southern Africa in a period of just over twelve months. Analysis of the circumstance pertaining to the conception and delivery of these children revealed considerable ethnic, geographic, and socioeconomic differences. It is possible that a ubiquitous environmental agent is a precipitating factor in this situation.
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A case is presented in which the latest methods of antenatal diagnosis of central nervous system defect were successfully employed. The advantages and drawbacks of the technique are discussed.
Amniotic fluid alphafetoprotein (AFP) has been measured in 520 pregnancies between 8 and 24 weeks of gestation. The normal range of values has been defined for fortnightly periods between these limits. Grossly elevated AFP concentrations were found in four pregnancies leading to spina bifida and nine pregnancies leading to anencephaly. Slightly elevated AFP concentrations were found in one twin pregnancy and two pregnancies affected by rhesus isoimmunisation. Normal AFP values were observed in 36 amniotic fluids from pregnancies where the outcome was rhesus isoimmunisation, an inborn error of metabolism, a cytogenetic disorder or a birth defect unrelated to the central nervous system. The reliability of amniotic fluid AFP in the early prenatal diagnosis of spina bifida and anencephaly and the possibility of performing assays on samples sent by post from any part of the world are emphasized.
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