Ultrasonography

This is a non-invasive procedure. The developing embryo can first be visualized at about 6 weeks gestation. Recognition of the major internal organs and extremities to determine if any are abnormal can best be accomplished between 16 to 20 weeks gestation. Although an ultrasound examination can be quite useful to determine the size and position of the fetus, the size and position of the placenta, the amount of amniotic fluid, and the appearance of fetal anatomy, there are limitations to this procedure. Subtle abnormalities may not be detected until later in pregnancy, or may not be detected at all. A good example of this is Down's syndrome (trisomy 21) where the morphologic abnormalities are often not marked, but only subtle, such as nuchal thickening.


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Prenatal Diagnosis - Overview
Amniocentesis
Maternal blood sampling for fetal blood cells