Doctor insights on:
Mild Cases Of Down Syndrome
Doubt it would Hapn: While females with ds are capable of reproduction( with difficult pregnancies) males with few exceptions are not. For a male to be capable, i would expect him to be a partially affected mosaic ds & fertility would depend on the tissues of his body that has ds info. Having family support thru their lives is a great asset to anyone with ds or any impairment. ...Read more
Down syndrome is a genetic condition in which there is an extra chromosome present. Symptoms may range from mild to severe. Children with Down syndrome share a common physical appearance including a flattened nose, small ears, a small mouth, upward slanting eyes, and a single crease in the ...Read more
My son born with Down syndrome and now diagnosed with infantile spasms and MRI result is brain mild atrophic changes for follow up , he is now 9 month?
I had my 20wk ultrasound.They told me that she had a mild increase in nuchal fold.Quad screen was negative.Could my baby have down syndrome?Worried
See below: First off, it's very easy and common to make the nuchal fold look big when it really isn't, so that's the good news. Bad news is that if it truly is thickened, it is concerning. A nuchal fold over 6 mm increases the risk of down's by 17 times. So divide your quad screen results by that for true risk. Again, if truly large, would consider an amniocentesis. Could also get a level 2 us to confirm. ...Read more
Is termination in cases of Down syndrome considered an acceptable reason for a therapeutic abortion?
Why is it the case that women are usually the reason for contributing the aneuploid gametes that leads to down syndrome?
Selection variables: If a woman generates an egg that contains 2 rather than 1 chromosome 21's, the addition of a 21 from the sperm will cause the trisomy 21 condition. Some of these miscarry & some deliver. When males generate a sperm that carries irregular information, there is speculation that the ones with bad information do not swim as well & thus can't pass the defect. ...Read more
Depends on parents: An unaffected mother or father could have a balanced(normal) set of chromasome material where a piece of one 21 chromasome is stuck on another.If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds.It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read moreSee 2 more doctor answers
If someone in your family has down syndrome, is there a larger risk that your baby will have down syndrome?
Slight risk: Most down syndrome is sporadic. A few patients with down syndrome have the extra 21 chromosome translocated on to another chromosome. In some of these cases the parents can carry the translocated chromosome in a balanced form and they and other family members could be at increased risk to have children with the syndrome. ...Read moreSee 2 more doctor answers
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