Six months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span. 1. What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple’s decision to have more children? 2. It has been suggested that prenatal genetic testing for achondroplasia be made available and offered to all women. Would you agree with this initiative? What ethical considerations would you consider when evaluating the medical and societal consequences of offering such testing?
Six months pregnant, an expectant mother had a routine
ultrasound that showed that the limbs of the fetus were
unusually short. Her physician suspected that the baby
might have a genetic form of dwarfism called achondroplasia,
an autosomal dominant trait occurring with a frequency of about
1 in 27,000 births. The parents were directed to a genetic counselor
to discuss this diagnosis. In the conference, they learned
that achondroplasia is caused by a mutant allele. Sometimes it
is passed from one generation to another, but in 80 percent of
all cases it is the result of a spontaneous mutation that arises
in a gamete of one of the parents. They also learned that most
children with achondroplasia have normal intelligence and a
normal
life span.
1. What information would be most relevant to concluding which
of the two mutation origins, inherited or new, most likely
pertains
in this case? How does this conclusion impact on this
couple’s decision to have more children?
2. It has been suggested that prenatal genetic testing for achondroplasia
be made available and offered to all women. Would
you agree with this initiative? What ethical considerations
would you consider when evaluating the medical and societal
consequences of offering such testing?
Trending now
This is a popular solution!
Step by step
Solved in 2 steps
