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PubMed · 2480649

Down's syndrome: current screening techniques.

R S White
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Abstract

Antenatal screening for Down's syndrome traditionally relied upon performing amniocentesis for karyotype on pregnant women aged 35 years and older. This method detects approximately 20% of all Down's syndrome pregnancies, with a false-positive rate of 4.3%. By incorporating maternal serum alpha-fetoprotein values as an additional screening parameter to maternal age, 28% of all Down's syndrome pregnancies may be diagnosed, with a 35% reduction in false-positive results. Other screening parameters such as maternal serum unconjugated estriol and human chorionic gonadotropin may eventually make it possible to detect more than 65% of pregnancies with chromosomally abnormal fetuses, without compromise in false-positive rates.

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AmniocentesisDown SyndromeFalse Positive ReactionsFemaleFetal DiseasesHumansMaternal AgePregnancyPrenatal DiagnosisProbabilityReagent Kits, DiagnosticRisk Factorsalpha-FetoproteinsJournal Article

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R S White. 1989. Down's syndrome: current screening techniques.. https://pubmed.ncbi.nlm.nih.gov/2480649/

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PubMed1992

Antenatal maternal serum screening for Down's syndrome: results of a demonstration project.

OBJECTIVES: To assess the implementation of antenatal screening for Down's syndrome in practice, using individual risk estimates based on maternal age and the three serum markers: alpha fetoprotein, unconjugated oestriol, and human chorionic gonadotrophin. DESIGN: Demonstration project of Down's syndrome screening; women with a risk estimate at term of 1 in 250 or greater were classified as "screen positive" and offered diagnostic amniocentesis. SETTING: Hospital and community antenatal clinics in four health districts in London. SUBJECTS: 12,603 women of all ages with singleton pregnancies seen between February 1989 and the end of May 1991, with follow up of the outcome of pregnancy completed to the end of 1991. MAIN OUTCOME MEASURES: Uptake of screening, detection rate for Down's syndrome, false positive rate, odds of being affected given a positive result, and uptake of amniocentesis in women with positive screening results, together with the costs of the screening programme. RESULTS: The uptake of screening was 74%. The detection rate was 48% (12/25), and the false positive rate was 4.1%, consistent with results expected from previous work based on observational studies. There was a loss of detection due to the selective use of ultrasound scans among women with positive screening results. One affected pregnancy occurred among 205 reclassified as negative; this illustrated the danger of false negatives occurring in this group and lends weight to the view that if an ultrasound estimate of gestational age is used it should be carried out routinely on all women rather than selectively among those with positive results. The estimated cost of avoiding the birth of a baby with Down's syndrome was about 38,000 pounds, substantially less than the lifetime costs of care. CONCLUSION: Antenatal maternal serum screening for Down's syndrome is effective in practice and can be readily integrated into routine antenatal care. It is cost effective and performs better than selection for amniocentesis on the basis of maternal age alone.

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