The PGD is appropiate
in couples who already have an affected child
with a genetic problem (chromosomal or single
gene disorders) and are at high risk of having
another one.
P.G.D. should be also considered for couples
who have experienced recurrent pregnancy loss
due to genetic disorders and couples with
unexplained IVF/ICSI failure.
The only requisite is to know if the genetic
problem is due to a chromosomal cause or
specific mutated genes molecularly
characterized. When the disorder is X-linked
and the mutation is unknown, the couple could
have the benefit of gender selection,
transferring only female embryos. There are
over 200 disorders that could be prevented by
sex selection of embryos.
Additionally, the aneuploidy screening for
specific chromosomes prone to disjunction
could also be beneficial for women 35 years or
older who desire to achieve a higher chance of
pregnancy with IVF/ICSI procedures. The rate
of embryo aneuploidy mainly increases with the
maternal age. The rate of aneuploidy for women
35 years or younger is up to 20%, while at
35-39 years is 20-50% and at 40 years or older
is 50% or higher. Several studies have
revealed that these rates become worse when
the husband has abnormal semen. Other
possibility is the entire study of the
karyotype at molecular level to assert the
normal status of the embryo.
Summarizing, the PGD could be beneficial
for carriers of:
autosomal
or sex linked recessive or dominant mutation.
balanced
chromosome translocations
dominant
mutation with late onset of the condition in a
patient who doesnt want to disclose his abnormal
status but wants to be sure of having normal
children.
Familial
tumors
Isimmunization
RhD and Kell group
HLA
typing
Women
> 35 y.o. who want to achieve an ongoing pregnancy.
Recurrent
abortions
Recurrent
IVF failure
Oligoastenoterathozoospermia
The main advantages of PGD are:
An
increased chance of having a normal baby.
As
the genetic testing is done prior to
implantation (preconceptional), it allows
avoiding the decision of genetic abortion,
unlike conventional prenatal diagnosis.
Abnormal
embryos have a significantly decreased
survival rates compared to normal embryos.
Therefore there is an increase in the
pregnancy rate by not transferring those
embryos that have abnormal chromosomes.
Abnormal chromosomes in the developing fetus
cause approximately 50% of the cases of
miscarriages. Therefore, by transferring only
normal embryos, the rate of miscarriage is
significantly reduced.
If
only normal chromosome embryos are transferred,
the pregnancy rate increases and the
miscarriage rate decreases. The chance of
inducing a pregnancy termination following a
CVS or amniocentesis is decreased.
If
PGD becomes widespread, the incidence of many
genetic diseases would be reduced.
Finally,
P.G.D. could significantly reduce medical
costs with the decrease in medically
challenged children being born, but mainly
avoid the emotional stress that the
handicapped children cause.
Because
PGD is not yet 100% accurate (90-95%), it is
recommended that chorionic villi sampling CVS
or amniocentesis are performed for
confirmation of normal genetic constitution.