By duchesse Fri 06-Mar-09 16:17:10 Add a message | Report post | Contact poster
Ok, figures-
If you are pregnant at the age I am (41), you have a 1:84 chance of having a baby with Down's (which is not fatal, nor especially life limiting except in very severe cases). Obviously there are other conditions that may affect your baby, but some are screened for and some are incredibly rare. So overall, in the absence of any other indications, you are most likely to have a healthy baby even at 41 (my baby's chance of Downs, adjusted, is 1:518)
If you and your partner carry an autosomal recessive disorder, every child has a 1:4 chance of having the disorder from birth. In the case of Jux's friend's, four of their children were not lucky in the draw. 2:4 of your children are most likely to carry the disease but not express it. In short, you have a 1:4 of having a totally healthy child. For every child. Your children might be unlucky: every single one might be affected. If you carried a child with a potentially fatal or very life-limiting condition with those odds, you'd surely want to know about it. It might even make you think twice about having children with each other. Surely?
BUT a recessive disorder has to be carried by both parents in order to have 1:4 odds of ending up homozygous and therefore affected.
Even for cousins - assuming one of the grandparents are a carrier of the receive gene. There is only a 1:2 chance that each parent is a carrier...therefore 1:4 chance that BOTH parents of the cousins happen to be carriers. And then there is a 1:4 chance that a child of teh cousins is affected...
So when you follow all that down...you start with a single recessive carrier as a grandparent (of the cousin) and end up with a 1:16 chance that the offspring of marrying cousins has both recessive genes...which agreed is still higher odds of Downs to a mother of 41years (but better odds that the 1:4 quoted).
Now what we haven't considered is how likely the grandparents are to actually be carrying in a disease causing recessive gene in the first instance....probably significantly less that 1:2 (which our model assumes) - as genes which cause severe abnormalities are present at low frequency in the population (because traditional outbreeding evolution gets rid of them). So providing the frequency of a bad recessive gene in the general population is less than 1:7 the odds of a 41 year old mother having a downs syndrom baby are in fact greater than cousins having a baby with an inherited disease.