Abstract
The last 2 decades have witnessed the transfer of a number of prenatal diagnosis methods from applied research to being a routine component of genetic counseling and obstetric management. More than 100 different genetic conditions can now be diagnosed in utero by amniocentesis; chorionic villus sampling (CVS); cordocentesis; and cytogenetic, enzymatic, and DNA analysis. In addition, more than 200 fetal malformations can be detected by ultrasonography, and neural tube defects (NTD) and Down’s syndrome can be screened in maternal blood in the first half of the second trimester N. In the meantime, the increasing demand to make reproductive decisions as early as possible and the rapid evolution of the techniques involved in genetic diagnosis have led to new approaches moving from the mid-second trimester to the preembryo stage.
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Brambati, B. (1992). Prenatal Diagnosis and Invasive Techniques in the First Trimester of Pregnancy. In: Barnea, E.R., Hustin, J., Jauniaux, E. (eds) The First Twelve Weeks of Gestation. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84385-3_23
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