The effect of fetal gender on the false-positive rate of Down syndrome by maternal serum screening

2005 ◽  
Vol 25 (13) ◽  
pp. 1258-1261 ◽  
Author(s):  
V. M. Mueller ◽  
T. Huang ◽  
A. M. Summers ◽  
S. H. M. Winsor
Keyword(s):  
Down Syndrome ◽  
False Positive ◽  
False Positive Rate ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Fetal Gender ◽  
Serum Screening ◽  
Positive Rate

Prenatal Screening for Down Syndrome in Australia

Ultrasound ◽  
2009 ◽  
Vol 17 (3) ◽  
pp. 167-171
Author(s):  
Debbie L Nisbet ◽  
Andrew McLennan
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
False Positive Rate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Screening Tests ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
Maternal Preference

Prenatal screening for Down syndrome should be offered to all pregnant women. The screening option chosen will be influenced by maternal preference, local availability of tests, and the gestation at which the pregnant woman presents. Screening tests take into account the effect of maternal age on Down syndrome risk. The combined first trimester screen using nuchal translucency and first trimester maternal serum screening can achieve a detection rate for Down syndrome of 90% with a 5% false positive rate, when performed by appropriately trained individuals. Midtrimester maternal serum screening is a good screening option for women unable to undergo the combined first trimester screen.

scholarly journals Hyperglycosylated Human Chorionic Gonadotropin (Invasive Trophoblast Antigen) Immunoassay: A New Basis for Gestational Down Syndrome Screening

1999 ◽  
Vol 45 (12) ◽  
pp. 2109-2119 ◽  
Author(s):  
Laurence A Cole ◽  
Shohreh Shahabi ◽  
Utku A Oz ◽  
Ray O Bahado-Singh ◽  
Maurice J Mahoney
Keyword(s):  
Down Syndrome ◽  
False Positive ◽  
False Positive Rate ◽  
Normal Karyotype ◽  
Screen Test ◽  
Β Subunit ◽  
Second Trimester ◽  
Marker Test ◽  
Positive Rate ◽  
Down Syndrome Screening

Abstract Background: Serum human chorionic gonadotropin (hCG) and hCG free β-subunit tests are used in combination with unconjugated estriol and α-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy. These tests have a limited detection rate for Down syndrome: ∼40% for hCG or free β-subunit alone, ∼60% for the triple screen test, and ∼70% for the quadruple marker test, all at 5%, or a relatively high, false-positive rate. New tests are needed with higher detection and lower false rates. Hyperglycosylated hCG (also known as invasive trophoblast antigen or ITA) is a new test. It specifically detects a unique oligosaccharide variant of hCG associated with Down syndrome pregnancies. We evaluated this new Down syndrome-directed test in prenatal diagnosis. Methods: Hyperglycosylated hCG was measured in urine samples from women undergoing amniocentesis for advanced maternal age concerns at 14–22 weeks of gestation, 1448 with normal karyotype and 39 with Down syndrome fetuses. Results: The median hyperglycosylated hCG value was 9.5-fold higher in Down syndrome cases (9.5 multiples of the normal karyotype median). The single test detected 80% of Down syndrome cases at a 5% false-positive rate. Urine hyperglycosylated hCG was combined with urine β-core fragment (urine breakdown product of serum hCG free β-subunit), serum α-fetoprotein, and maternal age-related risk. This urine-serum combination detected 96% of Down syndrome cases at a 5% false-positive rate, 94% of cases at a 3% false-positive rate, and 71% of cases at a 1% false-positive rate. These detection rates exceed those of any previously reported combination of biochemical markers. Conclusions: Hyperglycosylated hCG is a new base marker for Down syndrome screening in the second trimester of pregnancy. The measurement of hyperglycosylated hCG can fundamentally improve the performance of Down syndrome screening protocols.

Second-trimester Down syndrome maternal serum screening in twin pregnancies: impact of chorionicity

2003 ◽  
Vol 23 (4) ◽  
pp. 331-335 ◽  
Author(s):  
Fran�oise Muller ◽  
Sophie Dreux ◽  
Henry Dupoizat ◽  
Serge Uzan ◽  
Marie-Fran�oise Dubin ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Second Trimester ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
Twin Pregnancies

scholarly journals How important is consent in maternal serum screening for Down syndrome in France? Information and consent evaluation in maternal serum screening for Down syndrome: a French study

2007 ◽  
Vol 27 (3) ◽  
pp. 197-205 ◽  
Author(s):  
Romain Favre ◽  
Nathalie Duchange ◽  
Christophe Vayssière ◽  
Monique Kohler ◽  
Nicole Bouffard ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
French Study ◽  
Serum Screening

Impact of Including or Removing Nuchal Translucency Measurement on the Detection and False-Positive Rates of First-Trimester Down Syndrome Screening

2015 ◽  
Vol 40 (3) ◽  
pp. 214-218 ◽  
Author(s):  
Emmanuel Spaggiari ◽  
Isabelle Czerkiewicz ◽  
Corinne Sault ◽  
Sophie Dreux ◽  
Armelle Galland ◽  
...  
Keyword(s):  
Down Syndrome ◽  
False Positive ◽  
False Positive Rate ◽  
Method Comparison ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Routine Practice ◽  
Detection Rates ◽  
Significant Difference ◽  
Positive Rate

Introduction: First-trimester Down syndrome (DS) screening combining maternal age, serum markers (pregnancy-associated plasma protein-A and beta-human chorionic gonadotropin) and nuchal translucency (NT) gives an 85% detection rate for a 5% false-positive rate. These results largely depend on quality assessment of biochemical markers and of NT. In routine practice, despite an ultrasound quality control organization, NT images can be considered inadequate. The aim of the study was to evaluate the consequences for risk calculation when NT measurement is not taken into account. Material and Method: Comparison of detection and false-positive rates of first-trimester DS screening (PerkinElmer, Turku, Finland), with and without NT, based on a retrospective study of 117,126 patients including 274 trisomy 21-affected fetuses. NT was measured by more than 3,000 certified sonographers. Results: There was no significant difference in detection rates between the two strategies including or excluding NT measurement (86.7 vs. 81.8%). However, there was a significant difference in the false-positive rates (2.23 vs. 9.97%, p < 0.001). Discussion: Sonographers should be aware that removing NT from combined first-trimester screening would result in a 5-fold increase in false-positive rate to maintain the expected detection rates. This should be an incentive for maintaining quality in NT measurement.

Participation in maternal serum screening following screen positive results in a previous pregnancy

2000 ◽  
Vol 7 (1) ◽  
pp. 4-6 ◽  
Author(s):  
D.N. Rausch ◽  
G.M. Lambert-Messerlian ◽  
J.A. Canick
Keyword(s):  
Positive Result ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Previous Pregnancy ◽  
Screening Participation ◽  
Serum Screening ◽  
Positive Rate ◽  
Matched Comparison ◽  
Positive Results ◽  
Screening Result

Objective To determine whether women who have had a positive serum screening result in one pregnancy have a lower rate of participation in screening in their next pregnancy. Setting The Women and Infants Hospital triple marker screening programme. Methods Pregnancy and screening information was collected from laboratory and hospital databases to compare subsequent screening participation in women who were screen negative and screen positive for risk of Down's syndrome (DS) or neural tube defect (NTD) pregnancy. Results In an age matched comparison, 108 women who had a previous screen positive result were significantly less likely than 108 women who were screen negative to participate in maternal serum screening in their next pregnancy. When examined according to type of screen positive result, the effect was significant for both those who were screen positive for DS and those who were screen positive for NTD. The degree of risk in screen positive women did not significantly affect their uptake of screening in the next pregnancy. Conclusions Anxiety related to a screen positive result probably causes decreased participation in maternal serum screening in the next pregnancy. Reducing the screen positive rate in prenatal serum screening would alleviate maternal anxiety and would probably lead to more stable participation.

Screening for Down syndrome in the first trimester

1995 ◽  
Vol 7 (6) ◽  
pp. 1413 ◽  
Author(s):  
KJ Powell ◽  
JG Grudzinskas
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Published Data ◽  
Maternal Serum Screening ◽  
Ultrasound Findings ◽  
Serum Screening ◽  
Associated Proteins ◽  
Trimester Screening

Second-trimester maternal serum screening for Down syndrome is now well established, and permits detection of up to 70% of cases. The disadvantage of this sort of screening is that the timing of maternal blood sampling is relatively late (after 15 weeks). There is an accumulating body of evidence to suggest that in the first trimester concentrations of a number of pregnancy-associated proteins and hormones differ in chromosomally normal and abnormal pregnancies. A first-trimester maternal serum screening test for Down syndrome may therefore be possible. In addition, new methods of screening have recently been described based on ultrasound findings at 11 to 13 weeks of gestation. This review article presents a discussion of published data on the feasibility of first-trimester screening for Down syndrome.

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