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Introduction
Reproductive genetics – meaning the use of reproductive and genetic technologies to
both provide prospective parents information about a future child and to avoid having a
child with a genetic abnormality – is a rapidly evolving area of medicine. As with other
reproductive technologies, courts have been called upon to resolve a variety of disputes
arising from reproductive genetics, and more can be anticipated as these technologies
continue to develop and their use becomes more widespread.
Reproductive genetic testing has been used for several decades to inform prospective
parents about their risk of producing a child with a genetic disorder. Prospective parents
can be screened to determine if they are carriers of a genetic disease (“carrier
screening”) before they initiate pregnancy. Most of the time, however, carrier screening
occurs once pregnancy has already begun. In addition, prenatal testing can be
performed, in which the fetus’ DNA is tested for genetic defects using amniocentesis or
chorionic villus sampling (CVS).
In past decades, the number of genetic tests available was fairly limited. Now, however,
there are tests for more than 1400 genetic diseases available either clinically or as part
of research,1 and the availability of some of these tests has influenced standards of
medical care. For example, in 2001, the American College of Obstetrics and
Gynecology and the American College of Medical Genetics recommended that the
genetic test for cystic fibrosis be made available to all couples seeking preconception or
prenatal care, and offered to all couples in ethnic or racial groups considered at higher
risk for carrying the CF gene.2
The advent of a procedure called preimplantation genetic diagnosis (PGD) in 1990 has
allowed scientists to test embryos directly for genetic defects before they are implanted
into a woman’s uterus. More recently,