Amniocentesis Research Today is a free monthly online journal that collates and summarizes the latest research about Amniocentesis, including details on pregnancy, prenatal screening, diagnosis, risks, down syndrome.

Re-evaluation of risk for Down syndrome by means of the combined test in pregnant women of 35 years or more.

Centini G, Rosignoli L, Scarinci R, Faldini E, Morra C, Centini G, Petraglia F

Prenatal Diagnosis Centre, Chair of Obstetrics and Gynecology, Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Siena Italy. centini@unisi.it

OBJECTIVE: Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS: The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before deciding whether to undergo amniocentesis. RESULTS: The test was positive in 66 women who then requested amniocentesis for fetal karyotype determination; the other women had a negative test and declined amniocentesis. False-positives increased with maternal age from 6.6% at 35 years to about 50% at 40 to 41 and 100% in women over 41. Six cases of Down syndrome and two cases of trisomy 18 were detected. Not a single case of Down syndrome or trisomy 18 was missed, and other chromosome abnormalities were detected as well. CONCLUSIONS: The application of the combined test reduced the need for invasive testing to only 14% of the studied pregnant population, without missing any of the fetuses with trisomy 21 or 18.

Published 7 March 2005 in Prenat Diagn, 25(2): 133-6.
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