Maternal serum screening for Down's syndrome in early pregnancy.
Nicholas J. Wald,HowardS. Cuckle,J. W. Densem,K. Nanchahal,Patrick Royston,Tim Chard,James E. Haddow,G J Knight,Glenn E. Palomaki,Jacob A. Canick +9 more
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TLDR
The new screening method would detect over 60% of affected pregnancies, more than double that achievable with the same amniocentesis rate in existing programmes, and could reduce the number of children born with Down's syndrome in the United Kingdom from about 900 a year to about 350 a year.Abstract:
The possibility of improving the effectiveness of antenatal screening for Down's syndrome by measuring human chorionic gonadotrophin concentrations in maternal serum during the second trimester to select women for diagnostic amniocentesis was examined. The median maternal serum human chorionic gonadotrophin concentration in 77 pregnancies associated with Down's syndrome was twice the median concentration in 385 unaffected pregnancies matched for maternal age, gestational age, and duration of storage of the serum sample. Measuring human chorionic gonadotrophin in maternal serum was an effective screening test, giving a lower false positive rate (3%) at a 30% detection rate than that for maternal age (5%) and the two existing serum screening tests, unconjugated oestriol (7%) and alpha fetoprotein (11%). The most effective screening results were obtained with all four variables combined; at the same 30% detection rate the false positive rate declined to 0.5%. The new screening method would detect over 60% of affected pregnancies, more than double that achievable with the same amniocentesis rate in existing programmes (5%), and could reduce the number of children born with Down's syndrome in the United Kingdom from about 900 a year to about 350 a year.read more
Citations
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UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation
TL;DR: Assessment of risk by a combination of maternal age and fetal nuchal-translucency thickness, measured by ultrasonography at 10-14 weeks of gestation, finds that selection of the high-risk group for invasive testing by this method allows the detection of about 80% of affected pregnancies.
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First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS).
TL;DR: The matching criteria were gestation (using an ultrasound crown–rump length or biparietal diameter measurement), duration of storage, and centre, and Screening performance of the individual markers and combinations of markers together with maternal age was assessed.
Journal ArticleDOI
Integrated Screening for Down's Syndrome Based on Tests Performed during the First and Second Trimesters
TL;DR: A new screening method in which measurements obtained during both trimesters are integrated to provide a single estimate of a woman's risk of having a pregnancy affected by Down's syndrome is proposed.
Journal ArticleDOI
Prenatal screening for Down's syndrome with use of maternal serum markers.
James E. Haddow,Glenn E. Palomaki,George J. Knight,Josephine Williams,Andrea Pulkkinen,Jacob A. Canick,Devereux N. Saller,Gail Barsel Bowers +7 more
TL;DR: This data indicates that serum levels of unconjugated estriol and chorionic gonadotropin, which are abnormally low and abnormally high, respectively, in women carrying fetuses affected by Down's syndrome can be detected by measuring maternal serum alpha-fetoprotein during the second trimester in the general population of pregnant women.
Journal ArticleDOI
Antenatal screening for Down's syndrome
TL;DR: Methods of screening need to be fully evaluated before being introduced into routine clinical practice, including choosing markers for which there is sufficient scientific evidence of efficacy, quantifying performance in terms of detection and false positive rates, and establishing methods of monitoring performance.
References
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Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level.
TL;DR: In general, screening for Down's syndrome using both maternal age and serum AFP is more efficient than either alone.
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Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities
TL;DR: Measurement of hCG and hCG‐alpha in maternal serum samples can be used as a screening procedure for detecting pregnancies at risk for fetal chromosome abnormalities and both elevated and depressed gonadotropin levels resulted in detection of 76% of abnormal pregnancies.
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Some Techniques for Assessing Multivarate Normality Based on the Shapiro-Wilk W
TL;DR: In this paper, the authors extend the W test to plots of squared radii, and extend the treatment to subsets of variates, and show that W test provides a set of univariate test statistics which show low correlation even when the parent variates are quite highly correlated.
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Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome
TL;DR: The possibility that serum unconjugated oestriol measurement may be added to maternal age and alpha‐fetoprotein measurement in the antenatal screening for Down's syndrome is raised.
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Sonographic identification of second-trimester fetuses with Down's syndrome.
TL;DR: Fetuses with Down's syndrome are more likely than normal fetuses to have a thickened nuchal skin fold and relatively short femurs on ultrasound examination in the second trimester.