Literature DB >> 18923756

A prospective two years study of first trimester screening for Down syndrome.

V Zournatzi1, A Daniilidis, C Karidas, T Tantanasis, A Loufopoulos, J Tzafettas.   

Abstract

INTRODUCTION: Nowadays maternal age of pregnant women has increased in most developed countries. The rate of women above 35 years old constitutes about 15% of pregnancies. AIM: The aim of our study is to prove that by first trimester screening, the number of women who have indication for invasive prenatal diagnostic procedure is significantly reduced.
MATERIALS AND METHODS: This prospective study lasted two years from 02/2005 to 02/2007. The participants to our study were 531 pregnant women with a mean maternal age of 30 years (19-42). We used the first trimester screening test for Down's syndrome. The biochemical blood test of free b-hCG (beta human chorionic gonadotropin) and PAPP-A (pregnancy associated plasma protein A) and the measurement of nuchal translucency were performed between 11-13 weeks +6 days (mean gestational age 12 weeks +2 days).
RESULTS: In our study group, 69 women (12%) were 35 years old or more. The risk estimate for Down syndrome was 1 in 300 or more in 14 (2%) cases. In all these 14 cases we offered CVS (chorionic villus sampling) or amniocentesis.
CONCLUSION: It is a fact that although the risk of any individual 36 years old is higher, most abnormalities (approximately 70%) occur in the low risk population. With the first trimester screening the sensitivity of detecting DOWN syndrome reaches 90%. Our study confirms that by first trimester screening, the number of women who have indication for invasive prenatal diagnostic procedure is significantly reduced. As a result the cost for prenatal diagnosis of the population and also the risk of iatrogenic missed miscarriages is also reduced. Finally, this screening method gives the advantage of early diagnosis.

Entities:  

Keywords:  amniocentesis; nuchal translucency; prenatal screening

Year:  2008        PMID: 18923756      PMCID: PMC2532964     

Source DB:  PubMed          Journal:  Hippokratia        ISSN: 1108-4189            Impact factor:   0.471


  21 in total

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2.  Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH).

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3.  Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study.

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Journal:  BMJ       Date:  1999-01-09

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Journal:  Lancet       Date:  1986-06-07       Impact factor: 79.321

5.  Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience.

Authors:  Kevin Spencer; Christine E Spencer; Maureen Power; Carolynne Dawson; Kypros H Nicolaides
Journal:  BJOG       Date:  2003-03       Impact factor: 6.531

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Authors:  B Pertl; S C Yau; J Sherlock; A F Davies; C G Mathew; M Adinolfi
Journal:  Lancet       Date:  1994-05-14       Impact factor: 79.321

7.  Integrated screening for Down's syndrome based on tests performed during the first and second trimesters.

Authors:  N J Wald; H C Watt; A K Hackshaw
Journal:  N Engl J Med       Date:  1999-08-12       Impact factor: 91.245

8.  First-trimester screening for fetal aneuploidy: biochemistry and nuchal translucency.

Authors:  F Orlandi; G Damiani; T W Hallahan; D A Krantz; J N Macri
Journal:  Ultrasound Obstet Gynecol       Date:  1997-12       Impact factor: 7.299

9.  Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.

Authors:  K H Nicolaides; G Azar; D Byrne; C Mansur; K Marks
Journal:  BMJ       Date:  1992-04-04

10.  Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: a Scottish multicentre study.

Authors:  Jennifer A Crossley; David A Aitken; Alan D Cameron; Elizabeth McBride; J Michael Connor
Journal:  BJOG       Date:  2002-06       Impact factor: 6.531

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3.  [Extremes of maternal age and child mortality: analysis between 2000 and 2009].

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4.  Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.

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  4 in total

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