The world’s experience
over more than 20,000 cycles of PGD shows
that the procedure is quite efficient, with a
diagnostic accuracy of over 90% or even higher
in some genetic studies. The error rate of 10%
includes both false positive and false
negative results.
Embryo transfer is not always a guarantee when
a PGD procedure is performed, because all
embryos might turn out to be genetically
abnormal, or not embryogenic or unviable.
Therefore, it is important to predict the
possibility of finding normal embryos in
accordance with the genetic disorder and
ovarian reserve before starting the PGD. In
general, this type of diagnosis requires a
normal response to ovarian stimulation and the
eggs must be embryogenic. For recessive
disorders 3 out of every 4 embryos are
potentially transferable, while for dominant
disorder 1 out of every 2. For reciprocal
translocations 1 out of every 5, for
Robertsonian translocation 1 out of every 4,
and for HLA typing 1 out of every 4, etc.
There are several potential problems that
could occur with the FISH technique, as
follows: hybridization problems,
misinterpretation of the fluorescent signals,
the inability to detect structural
abnormalities, and the possibility that the
same embryo has cells with different
chromosome numbers. Therefore, the status of
one cell cannot always be extrapolated to the
entire embryo. Problems with PCR studies may
be due to complications during DNA
amplification, potential contamination with
exogenous DNA and other technical difficulties.
These difficulties may lead to misdiagnosis
that could prevent from transferring a normal
embryo or could lead to an abnormal embryo
transfer. Due to this possibility of
misdiagnosis and the possibility of genetic
mosaicism, the implementation of prenatal
diagnosis CVS or amniocentesis to confirm the
results of PGD is recommended.