Immunochemical quantification of Cu/Zn superoxide dismutase in prenatal diagnosis of Down's syndrome

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

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Asking for a Prenatal Diagnosis After the Birth of a Child with Down’s Syndrome

Human Genetics Supplement - Trisomy 21 ◽

10.1007/978-3-642-68006-9_7 ◽

1981 ◽

pp. 81-90

Author(s):

Nadine Fresco ◽

Danièle Silvestre

Keyword(s):

Prenatal Diagnosis ◽

Down's Syndrome ◽

Down’S Syndrome

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Monitoring Trends in Prenatal Diagnosis of Down's Syndrome in England and Wales, 1989–92

Journal of Medical Screening ◽

10.1177/096914139400100410 ◽

1994 ◽

Vol 1 (4) ◽

pp. 233-237 ◽

Cited By ~ 6

Author(s):

Joan K Morris ◽

David E Mutton ◽

Roy Ide ◽

Eva Alberman ◽

Martin Bobrow

Keyword(s):

Prenatal Diagnosis ◽

Confidence Interval ◽

Regional Differences ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Fold Increase ◽

Maternal Serum ◽

Serum Analysis ◽

Chromosomal Anomalies ◽

England And Wales

The national register of chromosomal anomalies that lead to Down's syndrome has enabled the monitoring of change in prenatal diagnosis for this condition, and the factors which affect the change. The proportion of cases of cytogenetically diagnosed Down's syndrome in England and Wales detected prenatally rose to 46% in 1991–2 from 31% in 1988–9, a 1·5-fold increase (95% confidence interval 1·3 to 1·7). The increase was confined to mothers under 40 years and was due to the introduction of screening by maternal serum analysis and ultrasound. Over a quarter of affected pregnancies in women aged 25–29 were detected prenatally in 1991–2 compared with less than 10% in 1988–9. Analysis of the data showed regional differences in prenatal diagnosis rates, and in the length of time elapsing between the diagnostic test and termination of an affected pregnancy. An inexplicable finding was that this period varied with the sex of the fetus, being on average a day longer for females than for males.

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Non-invasive prenatal diagnosis of Down's syndrome – Authors' reply

The Lancet ◽

10.1016/s0140-6736(07)60937-4 ◽

2007 ◽

Vol 369 (9578) ◽

pp. 1998-1999 ◽

Cited By ~ 1

Author(s):

Ravinder Dhallan ◽

Xin Guo ◽

Sarah Emche ◽

Marian Damewood ◽

Philip Bayliss

Keyword(s):

Prenatal Diagnosis ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Non Invasive

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Biological Changes Induced by Physical Activity in Individuals with Down’s Syndrome

Adapted Physical Activity Quarterly ◽

10.1123/apaq.14.2.166 ◽

1997 ◽

Vol 14 (2) ◽

pp. 166-175 ◽

Cited By ~ 9

Author(s):

Yves Eberhard ◽

Jacqueline Eterradossi ◽

Bettina Debû

Keyword(s):

Superoxide Dismutase ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Lipid Profiles ◽

Peak Exercise ◽

Physical Conditioning ◽

Long Term Effects ◽

Exercise Tests ◽

Before And After ◽

High Level

The effects of exercise and of a physical conditioning program on 11 subjects (7 males, 4 females, aged 15 to 20) with Down’s syndrome (DS) were analyzed. Metabolic responses were evaluated before and after two ergometric cycle exercise tests: an incremental exercise to symptom limited VO2 max. and an endurance test performed at 60% of maximal aerobic power. Plasma substrates, electrolytes, catecholamines, lipoprotein lipid profiles, and superoxide dismutase were assayed immediately before and after these tests. The results indicated (a) a low blood lactate level for peak exercise, (b) slow free fatty acid mobilization at the start of exercise, (c) a low level of cholesterol HDL and a high level of pre-beta VLDL at rest, (d) adjustment to nearly normal lipid profiles with endurance activity, and (e) differences between before and after training for superoxide dismutase levels in subjects with DS. These results suggest that endurance training could have long-term effects on the pathophysiological consequences of DS.

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