Joel Zlotogora,
Director, Department of community Genetics. Public Health services, Ministry of Health.
Hadassah Hebrew Medical school, Israel
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Re: Fragile X screening
zlotogora{at}gmail.com Joel Zlotogora
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In their review Bailey et al, describe and discuss several ethical,
legal, and social concerns about new born screening for fragile X and
conclude with recommendations on how these concerns could be addressed.
For most genetic diseases couples at risk are discovered after the birth
of an affected child and in many cases newborn screening is the only way
to discover an asymptomatic affected individual. For instance in the case
of phenyl ketonuria (PKU) in most of the populations, the multitude and
rarity of the mutations that are responsible for the disease make the
discovery of couples at risk before the birth of a first affected child
not feasible. Therefore, newborn screening allowing the early discovery of
the affected asymptomatic child is the best possible way for diagnosis and
early treatment.
In disorders such as fragile X syndrome in which there is a single type of
mutation in all the populations there is a possibility to detect couple at
risk before the birth of an affected child. Since affected children are
born only to carrier women, the detection of these women will allow
determining who the couples at risk are. Detection of couples at risk
before the birth of an affected child has several advantages and will give
a solution to most of the ethical, legal, and social concerns raised by
the newborn screening presented in the review. First and most importantly,
this type of screening gives the couple the possibility of choice before
the birth of an affected child. After appropriate genetic counseling the
woman may decide with her partner either to be tested or not. If she
decides to be tested and found to be a carrier, then she may decide either
to have or not prenatal diagnosis. If the couple decided against prenatal
diagnosis then they after the birth of the child they will have the
option, either to have or not a test of the newborn. Another advantage of
this kind of screening is that the test needs to be done only once since
women who are not carriers are not at risk in any of their pregnancies and
their children do not need to be tested.
In the discussions about the possibility to propose newborn screening for
diseases that are not amenable to treatment is that it allows discovering
couples at risk before the birth of a second affected child. However, why
shouldn’t the parents be allowed to have this choice already before the
birth of the first affected child? Only by offering fragile X screening to
women either before a pregnancy or at the beginning of the pregnancy, they
will have a true choice: either to continue or not the pregnancy and to
test or not the child after birth. If the screening is done according to
the rules and the carrier women receive appropriate genetic counseling
then it may be expected that a truly informed choice of the parents will
be available to the couple.
In conclusion, in the case of fragile X syndrome, the debate should be
about population screening programs for fragile X of healthy women and not
about newborn screening.
Conflict of Interest:
None declared |
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Fragile X screening
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