Advances in Prenatal Screening: Maternal Serum Screening for Down Syndrome

NeoReviews ◽  
2002 ◽  
Vol 3 (10) ◽  
pp. 209e-213
Author(s):  
K. K. Welch ◽  
F. D. Malone
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening

Prenatal screening for Down syndrome: should first trimester ultrasound replace maternal serum screening?

1996 ◽  
Vol 47 ◽  
pp. S37-S39 ◽  
Author(s):  
Françoise Muller ◽  
Marc Dommergues ◽  
Laurence Bussières ◽  
Philippe Aegerter ◽  
Bernard Le Fiblec ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
First Trimester ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
First Trimester Ultrasound

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.

Prenatal Screening Technologies and Test Issues

2017 ◽  
Author(s):  
Danielle LaGrave ◽  
Patricia L. Devers Winters ◽  
Geralyn Lambert-Messerlian
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Molecular Genetic ◽  
First Trimester ◽  
Maternal Serum ◽  
Patient Specific ◽  
Maternal Serum Screening ◽  
Plasma Fraction ◽  
Cell Free Fetal Dna ◽  
Serum Screening

Maternal serum screening began with the measurement of serum alpha fetal protein to detect open neural tube defects, which led to the implementation of routine serum-based prenatal screening in the second trimester for Down syndrome. Advances via combined and integrated screening allowed for the first-trimester detection of both Down syndrome and trisomy 18. Next-generation sequencing has enabled the identification of aneuploidies in circulating cell-free fetal DNA from the plasma fraction of maternal whole blood. This breakthrough in molecular genetic testing, commonly referred to as noninvasive prenatal testing, has revolutionized prenatal screening and testing for genetic disorders without posing additional risk to the pregnancy. This chapter reviews the history of maternal serum screening, the disorders it can detect, the methods of calculating patient-specific risk, and reasons for recalculation or adjustment of risk. This chapter also reviews of cell-free DNA-based testing for fetal aneuploidies, including its limitations and potential.

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

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.

Prenatal Screening

2018 ◽  
Author(s):  
Amber Mathiesen ◽  
Kali Roy
Keyword(s):  
Test Performance ◽  
Predictive Value ◽  
Prenatal Screening ◽  
Maternal Serum ◽  
Dna Testing ◽  
Maternal Serum Screening ◽  
Cell Free Dna ◽  
Free Dna ◽  
Serum Screening

This chapter provides information about a genetic counselor’s role in prenatal screening, including discussing and offering options to a patient, interpreting and providing results, or managing referrals based on abnormal results. It discusses how a screen is evaluated using sensitivity, specificity, positive predictive value, negative predictive value, and personal utility. It provides a detailed description of both maternal serum screening and cell-free DNA testing. The maternal serum screening discussion includes information on multiples of median, calculating risk, timing, pattern association, limitations, and follow-up. The review of cell-free DNA testing includes fetal fraction, methodology, test performance, limitations and considerations for testing, and follow-up. This chapter also provides a list of additional resources to use for cell-free DNA testing.

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