Reference : New methods of prenatal screening for trisomy 21
Scientific journals : Article
Life sciences : Anatomy (cytology, histology, embryology...) & physiology
http://hdl.handle.net/2268/12930
New methods of prenatal screening for trisomy 21
English
[fr] Nouvelles méthodes d'évaluation du risque de trisomie 21 en consultation prénatale
Capelle, Xavier mailto [Centre Hospitalier Universitaire de Liège - CHU > > Gynécologie-Obstétrique >]
Schaaps, Jean-Pierre mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Embryologie >]
Foidart, Jean-Michel mailto [Université de Liège - ULg > Département des sciences cliniques > Gynécologie - Obstétrique - Labo de biologie des tumeurs et du développement >]
Feb-2008
Revue Médicale de Liège
Hopital de Baviere
63
2
82-6
Yes (verified by ORBi)
0370-629X
Liège
Belgique
[en] Trisomie 21 ; dépistage ; clarté nucale ; marqueurs sériques maternels
[en] Down syndrome is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age which can be viewed as the first screening test in the 1970's. New strategies for Down syndrom, have emerged with higher sensitivity and lower false-positive rate. These strategies are based on sonographic and maternal serum markers. The most specific but complex strategy is based on the integrated test, i.e., the integration of the quadruple test performed in the second trimester to the first trimester combined screening: for a 85% detection rate, the false positive rate is estimated to 0.9%. This strategy deprives the patient of an early diagnosis. Alternatives strategies do exist which can perform similar detection rate but with increasing false positive rate. To date Down syndrom, screening has not been coordinated by a national body; it would be usefull to ensure the sonographist formation, perform quality audit and decrease variations in practice.
http://hdl.handle.net/2268/12930

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