Detection and false-positive rates of maternal serum markers for Down syndrome screening according to maternal age in women over 35 years of age. A study of the agreement of eight dedicated software packages

2002 ◽  
Vol 22 (5) ◽  
pp. 350-353 ◽  
Author(s):  
Fran�oise Muller ◽  
Jean-Christophe Thalabard ◽  
Sandrine Ngo ◽  
Marc Dommergues
2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Pakorn Chaksuwat ◽  
Supatra Sirichotiyakul ◽  
Suchaya Luewan ◽  
Theera Tongsong

Objective. To evaluate the agreement of risk categorization for Down syndrome screening between ultrasound scan-based gestational age (GA) and last menstrual period-based gestational age in both first and second trimesters by maternal serum markers. Methods. Data comprising 4,055 and 4,016 cases of first and second trimester screening were used. The maternal serum markers were analyzed using the ultrasound-based GA and menstrual age. The subjects whose menstrual age and ultrasound-based GA fell in different trimesters were excluded because the risk could not be calculated due to the different serum markers used in each trimester. The agreement of risk categorization for fetal Down syndrome was evaluated. Results. The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. The study found a good agreement of risk categorization by Kappa index, which was 0.615 for the overall screening. The menstrual age had a slight decrease in the detection rate and a lower false-positive rate. Conclusion. Menstrual age is acceptable in cases of accurate last menstrual period. However, in places where ultrasonography is not readily available, gestational age estimation by menstrual age along with clinical examination that corresponds to the gestational age can be reliable.


1995 ◽  
Vol 50 (4) ◽  
pp. 316-320 ◽  
Author(s):  
Jeanine Loncar ◽  
Vanessa M. Barnabei ◽  
John W. Larsen

2003 ◽  
Vol 22 (S1) ◽  
pp. 12-12
Author(s):  
P. Rozenberg ◽  
L. Buissieres ◽  
M. V. Senat ◽  
J. P. Bernard ◽  
J. P. Baud ◽  
...  

2004 ◽  
Vol 24 (3) ◽  
pp. 321-321
Author(s):  
V. Frisová ◽  
L. Krofta ◽  
I. Kuèerová ◽  
O. Benešová ◽  
A. Hujová ◽  
...  

1998 ◽  
Vol 179 (6) ◽  
pp. 1627-1631 ◽  
Author(s):  
R.O. Bahado-Singh ◽  
A.U. Oz ◽  
E. Kovanci ◽  
O. Deren ◽  
J. Copel ◽  
...  

1999 ◽  
Vol 45 (12) ◽  
pp. 2109-2119 ◽  
Author(s):  
Laurence A Cole ◽  
Shohreh Shahabi ◽  
Utku A Oz ◽  
Ray O Bahado-Singh ◽  
Maurice J Mahoney

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.


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