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

Abstract:

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.

journal_name

Prenat Diagn

journal_title

Prenatal diagnosis

authors

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

doi

10.1002/pd.1036

subject

Has Abstract

pub_date

2005-02-01 00:00:00

pages

133-6

issue

2

eissn

0197-3851

issn

1097-0223

journal_volume

25

pub_type

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