Marqueurs sériques maternels d'anomalies fœtales (trisomie 21, anomalies chromosomiques, spina bifida,…)

Antenatal diagnosis of fetal abnormalities is based on ultrasound scan and biochemical markers. In France, first studies began in 1990 leading to a national screening of Down syndrome in 1997 combining maternal age and biochemical markers in second-trimester (at 14-18 weeks gestation) This legislation has just been modified in 2009 to allow first-trimester screening (at 11- 13 weeks gestation) by adding fetal nuchal translucency to risk calculation in order to reduce amniocentesis. Final risk select pregnant women at increased risk of Down syndrome. Nevertheless, the profile of markers must be looked in an attentive way to detect other fetal or maternal pathology. This new screening of 2009 allows to detect Down syndrome but also other chromosomic abnormalities (as trisomy 13, trisomy 18 or triploidy), or non-chromosomic abnormalities as In Utero Fetal Death, neural tube defects or congenital abdominal wall defects. Maternal pathologies can also be detected and treated accordingly (mole, pre eclampsia, gravidic toxaemia, HELLP syndrome).