A prenatal trisomy 21 screening program using alpha-fetoprotein, human chorionic gonadotropin, and free estriol assays on maternal dried blood

Article Abstract:

An assay using a dried sample of maternal blood proved to be a low cost, effective method for identifying women at high risk of carrying a Down syndrome fetus. A multicenter European study assayed 10,450 dried maternal blood samples for alpha fetoprotein, human chorionic gonadotropin, and free estriol. Amniocentesis is generally recommended when the risk of Down syndrome exceeds 1 in 350. Screening found 8% of the population to have a risk for Down syndrome exceeding 1 in 350. this included 32% of the population considered at high risk on the basis of age or other factors as well as 6% of the low-risk group. Fifteen Down syndrome babies were diagnosed, of which 11 were identified by a positive screen. Thus, the detection rate was 73% and the screen correctly identified 92% of fetuses as free of Down syndrome. This test would have reduced the number of women age 35 or more requiring amniocentesis by two-thirds as well as identified additional women at high risk among the low-risk population.

Medical examination, Blood, Blood tests

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Maternal serum screening for alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin between 11 and 15 weeks of pregnancy to detect fetal chromosome abnormalities

Article Abstract:

Maternal blood screening may be able to detect 82% of the cases of Down's syndrome fetuses in women who are between 11 and 15 weeks pregnant. A study of 993 women who were scheduled for amniocentesis to rule out possible birth defects found that higher than normal levels of human chorionic gonadotropin (hCG) were associated with Down's syndrome. Lower than normal levels of alpha-fetoprotein (AFP) and unconjugated estriol were also associated with the syndrome. HCG is a hormone secreted by the placenta. AFP is a protein produced by the fetus. Estriol is a weak hormone often present in urine. In women 35-years-old or older, there was a false-positive rate of 23% for the test. In women younger than 35 years, the false-positive rate was 6%. Further research on the accuracy of this test may allow fetal testing before the usual 16 to 20 week testing that is now the standard.

Birth defects, Estrogen, Estrogens, Alpha fetoproteins

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Prospective evaluation of free beta-subunit of human chorionic gonadotropin and dimeric inhibin A for aneuploidy detection

Article Abstract:

Analyzing maternal blood for the free beta-subunit of human chorionic gonadotropin and dimeric inhibin A as well as the three usual markers appears to be more accurate in screening for Down syndrome than the three markers alone. In a study of 1,256 all five markers also resulted in a lower false-positive rate.

Inhibin

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