First-Trimester or Second-Trimester Screening, or Both, for Down Syndrome

The FASTER Trial by Malone et al. discusses methods of prenatal genetic screening for Down syndrome. The trial included 15 sites within the United States between 1999 and 2005. This trial was designed to compare the differences in detection rates of Down syndrome when applying screening tests from the first-trimester, second-trimester, or screening tests that combine markers from both trimesters. Screening tests evaluated in this trial include nuchal translucency, serum screen, combined screen, quadruple screen, independent sequential screen, stepwise sequential screen, serum integrated screen, and fully integrated screen. This trial compares detection rates, false positive rates, and timing of results between screening tests.

The Effect of Down Syndrome Biochemical Markers on Predicting Severity of Preeclampsia

10.21203/rs.3.rs-132123/v1 ◽

2020 ◽

Author(s):

AYSE OZBAN

Keyword(s):

Down Syndrome ◽

Pregnant Women ◽

Biochemical Markers ◽

First Trimester ◽

Maternal Serum ◽

Screening Tests ◽

Second Trimester ◽

Study Results ◽

Abstract Objective: This study aims to determine whether it is possible to predict preeclampsia by comparing postpartum results and test results of the pregnant women diagnosed with preeclampsia, whose first and/or second trimester screening tests were accessible, and to demonstrate the predictability of severity and week of onset.Background: 204 patients underwent renal transplantation in our center and 84 of them were female. Five of our patients (one of them had two births) gave birth to a total of 6 pregnancies.Method: 135 patients were diagnosed with preeclampsia and their first and/or second trimester screening tests were accessible, and 366 control participants gave birth to a healthy baby between 37-41 weeks after standard follow-up period for pregnancy and their screening tests were also accessible.Results: The study results show that the first trimester maternal serum PAPP-A level is significantly low in preeclamptic pregnant women, and that the second trimester maternal serum AFP and hCG levels are significantly high and uE3 levels are significantly low The results also suggest that the first and second trimester Down syndrome biochemical markers can be used in preeclampsia screening.Conclusion: Among these markers, uE3 is the parameter which affects the possibility of preeclampsia the most. However, the first and second trimester Down syndrome biochemical markers are not effective in predicting the severity and onset week of preeclampsia.

OP01.12: Maternal age-specific detection rates and false-positive rates for first- and second-trimester screening for Down syndrome

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.3048 ◽

2006 ◽

Vol 28 (4) ◽

pp. 415-415

Author(s):

G. R. DeVore ◽

F. D. Malone ◽

R. H. Ball ◽

D. A. Nyberg ◽

C. H. Comstock ◽

...

Keyword(s):

Down Syndrome ◽

False Positive ◽

Maternal Age ◽

Second Trimester ◽

Specific Detection ◽

Detection Rates ◽

Sequential first and second trimester screening tests: correlation of the markers' levels in normal versus Down syndrome affected pregnancies

Prenatal Diagnosis ◽

10.1002/pd.198 ◽

2001 ◽

Vol 21 (13) ◽

pp. 1175-1177 ◽

Cited By ~ 5

Author(s):

R. Maymon ◽

M. Bergman ◽

S. Segal ◽

E. Dreazen ◽

Z. Weinraub ◽

...

Keyword(s):

Down Syndrome ◽

Screening Tests ◽

Second Trimester ◽

A preliminary retrospective study about the relationship between ductus venosus Doppler indices, nuchal translucency (NT) and biochemical markers in the first and second trimester screening tests

Gynecological Endocrinology ◽

10.3109/09513590.2011.631633 ◽

2012 ◽

Vol 28 (5) ◽

pp. 378-381 ◽

Cited By ~ 2

Author(s):

Fazli Demirturk ◽

Ahmet Cantug Caliskan ◽

Hakan Aytan ◽

Semsettin Sahin

Keyword(s):

Retrospective Study ◽

Biochemical Markers ◽

Nuchal Translucency ◽

Screening Tests ◽

Ductus Venosus ◽

Second Trimester ◽

Trimester Screening ◽

Doppler Indices ◽

The Relationship

Four Years' Experience With an Interlaboratory Comparison Program Involving First-Trimester Markers of Down Syndrome

Archives of Pathology & Laboratory Medicine ◽

10.5858/2009-0670-oar.1 ◽

2010 ◽

Vol 134 (11) ◽

pp. 1685-1691

Author(s):

Glenn E. Palomaki ◽

George J. Knight ◽

Geralyn Lambert-Messerlian ◽

Jacob A. Canick ◽

James E. Haddow

Keyword(s):

Down Syndrome ◽

Chorionic Gonadotropin ◽

Plasma Protein ◽

Human Chorionic Gonadotropin ◽

Interlaboratory Comparison ◽

Protein A ◽

First Trimester ◽

Nuchal Translucency ◽

Second Trimester ◽

Coefficients Of Variation

Abstract Context.—We initiated a voluntary, self-funded interlaboratory comparison program in the fall of 2005 because no proficiency testing program was available to laboratories in North America offering first-trimester, combined serum and ultrasound, Down syndrome screening. Objectives.—To evaluate the first 4 years of the interlaboratory comparison program against stated goals, to identify areas of concern, and to create new initiatives as indicated. Design.—Five serum samples are distributed 3 times a year to be tested for pregnancy-associated plasma protein A, human chorionic gonadotropin or its β subunit, and dimeric inhibin-A; participants convert these results into multiples of the median. Patient histories include nuchal translucency information that enables the calculation of the risk of Down syndrome. Also included are educational components linked to interlaboratory comparison program results. Assessment of integrated (first- and second-trimester markers) risks is accomplished by having participants combine interlaboratory comparison program results with their results from a second-trimester proficiency testing program administered by the College of American Pathologists. Results.—The precision profile for pregnancy-associated plasma protein A shows decreasing coefficients of variation with increasing pregnancy-associated plasma protein A concentrations and multiples of the median (25% to 11% and 30% to 15%, respectively). In contrast, coefficients of variation are a relatively constant 12% throughout the entire range of human chorionic gonadotropin results. On a logarithmic scale, the median coefficient of variation of the risk of Down syndrome is 9%. Conclusions.—Participants in the interlaboratory comparison program reliably measure analytes, compute multiples of the median, and calculate consistent Down syndrome risks. Assays for the measurement of pregnancy-associated plasma protein A are not standardized and are less precise than those for human chorionic gonadotropin. Participants calculate reliable median equations given sonographer-specific sets of paired crown-rump length and nuchal translucency measurements.

526 First vs. second trimester screening tools for Down Syndrome: A cost-utility analysis

American Journal of Obstetrics and Gynecology ◽

10.1016/s0002-9378(01)80558-5 ◽

2001 ◽

Vol 185 (6) ◽

pp. S224

Author(s):

Aaron Caughey ◽

Mary Norton ◽

Miriam Kuppermann ◽

A. Eugene Washington

Keyword(s):

Down Syndrome ◽

Cost Utility ◽

Cost Utility Analysis ◽

Screening Tools ◽

Second Trimester ◽

Utility Analysis ◽

P01.14: Monsomy 21 detected by second-trimester screening for Down syndrome

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.3400 ◽

2006 ◽

Vol 28 (4) ◽

pp. 515-515

Author(s):

V. Marsoosi

Keyword(s):

Down Syndrome ◽

Second Trimester ◽

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

Fetal Diagnosis and Therapy ◽

10.1159/000442198 ◽

2015 ◽

Vol 40 (3) ◽

pp. 214-218 ◽

Cited By ~ 1

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.