Fetal blood samples can be obtained directly from the umbilical
cord under ultrasound guidance. Blood sampling enables rapid
fetal karyotyping in cases presenting late in the second
trimester. Indications for fetal blood sampling to diagnose
genetic disorders are decreasing with the increased application
of DNA analysis performed on chorionic villus material. Fetal
skin biopsy has proved effective in the prenatal diagnosis of
certain skin disorders and fetal liver biopsy has been performed
for diagnosis of ornithine transcarbamylase (otc) deficiency.
Again, the need for tissue biopsy is now largely replaced by
DNA analysis on chorionic villus material and fetoscopy for
direct visualisation of the fetus has been replaced by
ultrasonography.
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