Prenatal screening for @entity1467 initially targeted high-risk pregnant @entity1 (> 35 years old). However, the vast majority of babies with @entity1467 are born to younger @entity1 (as the majority of babies are born in this age category). It was first discovered that some serum analytes were altered in pregnancies affected with @entity1467 (triple test). In the nineties, the association between an increased nuchal translucency measurement and trisomy 21 was noted. The use of this measurement in combination with serum markers has enabled an increased detection rate but still at the cost of a false positive rate of around five percent (combined test). Recently, major advances in sequencing technologies have allowed reasearchers to make use of the cell free fetal DNA in maternal blood. This new test (named non invasive prenatal test) made it into clinical use as early as 2011 in some countries. Its sensitivity is above 99 % for trisomy 21 and the false positive rate is very low. It is risk-free and much more accurate than previous approaches. It is largely favored over an invasive test by high risk @entity1 (advanced maternal age or high-risk combined test). Its use is still restricted by a high cost which is for the moment still entirely beared by the @entity1 . The availability of NIPT in our routine practice and the increased complexity of screening options have highlighted the need for a more dedicated counselling consultation before @entity1467 screening is performed.

[Prenatal screening: the example of XXXX screening].

@entity1 :: ('9606', 'Species') :: ['women', 'patient'] @entity1467 :: ('MESH:D004314', 'Disease') :: ["Down's syndrome"]
@entity1467 :: (MESH:D004314,Disease) :: ['Down's syndrome']
