study_ing
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a 32 yr old woman is concerned about the increase risk of abnormalities in her fetus as her spouse ( whom she adores) is 60 yrs of age.
true or false?
1.her concern is justified.
2. there is no cutoff for paternal age
(please explain)
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| juanma0
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2 is right. Correct me if ìm wrong : Even though there is evidence of increased autosomal dominant and X-linked disorders with increasing paternal age, it is not sufficient to warrant a useful screening test for any disorder, so currently there is no cutoff for paternal age.
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| study_ing
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great job!!
evidence for autosomal dominant and X-linked disorders with increasing paternal age exists..but remmember that for chromosomal anomalies it duz not.
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| nadiabarati
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But the risk of achondroplasia increases with increased paternal age! So the woman didn't specify her worry regarding only chromosomal abnormalities, So how you're gonna reassure her?!!
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| juanma0
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Achondorplasia is autosomal dominant, in that case u first do a through history and family assessment. If no one in the family has this disorder the risk is virtually zero. No screening would therefore be necessary.
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| robin082006
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| study_ing
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sorry for the late reply ..but good job juanma
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| nadiabarati
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but many cases of achondroplasia are the result of new mutation, thats why we talk about the effect of paternal age on it.
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| juanma0
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Good point. It seems to me that screening for a disease that it is the result of a new mutation is not very practical, the population at risk is probably unknown or extemely large, which would make the sensitivity very low.
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| juanma0
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You would probably have to determine if increased parental age is associated with a higher risk of achondroplasia due to a new mutation compared to autosomal dominant achondroplasia. Maybe these "mutants" occur with fathers aged 18? It is extremely rare to find a disease that is associated with a new mutation and increased parental age only, as many of these are multifactorial. I think u touched a topic that needs increased research nadia.
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| nadiabarati
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but we say to women over 35 that the probability of trisomy 21 is higher and they need to undergo amniocentesis for it. Although most of them are born by young women. So why we don't have the same approach for old fathers?...
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| nadiabarati
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I mean as you say a young father can get a child with achondro...So a young woman also can give birth to a Down newborn!
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| study_ing
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screening has to be balanced with costeffectiveness, availabiltiy of therapeutic options, prevalence of the prblem , impact on health systems..
women over 35, risk od downs, its prevalence and reduction in costs justify screening.
for men and acjondroplasia, it duznt, yet.
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| nadiabarati
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thanks study-ing. nice explanation.
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| som
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nice discussion here. hey study-ing, i like ur way of approach in tackling the que n exams. All the best to u.
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| study_ing
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| tolito
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i just read a bit about screening tests too and there has to be a justification for it. just like study-ing nicely put it, it is a matter of 'cash'!!! if it is not seen to be cost-effective...., then the disease is not screened for. if i take an instant, i may remember the particular question this cropped up in.
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