Prenatal diagnosis of XXXX .

@entity1 @entity548 @entity1423 @entity882 @entity74 @entity1427 @entity1422 @entity5617
The antenatal diagnosis of @entity1423 represents real progress in the early detection of @entity548 occurring in the fetus. However, the diagnosis is only possible in some cases during the first trimester of gestation, and not in the first weeks as is the case for other @entity74 such as abnormal haemoglobins. This delay can be reduced now that the @entity74 responsible for some @entity1423 have been discovered. If the region of chromosome 17 and the DNA sequence coding for the glycoproteins @entity1427 -IIIa were known, this would make possible the recognition of the gene defect responsible for @entity1422 . This could also permit the diagnosis of @entity1422 at the gene level, i.e. during the first weeks of gestation. However, the use of gene markers could be limited by the fact that a monomorphic clinical expression of @entity1422 could correspond to different genetic mutations which can all result in a defect in @entity1427 -IIIa synthesis and assembly. If such diagnosis could be made very early, it would only represent real progress if a specific treatment could be applied. New therapeutic approaches to immune @entity882 during pregnancy appear to be possible and can be applied when there is a risk to the fetus, they are still either experimental or anecdotal and there is a real need for a well-designed clinical trial. In all fetal @entity1423 , the risk of @entity5617 following fetal blood sampling must not be underestimated and very careful, intensive care is necessary after such an investigation. In the absence of a specific therapy, this antenatal diagnosis must be restricted to cases in which the risk of severe @entity548 complications are anticipated and where there is a well-documented family history. The @entity1 must be properly informed of all the aspects of the investigation, including the possible risks. As has been the case for other @entity74 , progress will be made, and we can anticipate that eventually in utero bone-marrow transplantation or gene correction be performed to cure the disease before birth.
