1 marker for down syndrome?

[mishayla96]

Hi all. I was just wondering if any of you could better explain this to me. I posted earlier about my BIL having his first child in June of 2005. We are all exstatic. We found out a few days ago (according to his g-friends sonogram) that it is going to be a girl. BUT the NEW thing that he told hubby and I yesterday is the doc's told his girlfriend that the baby has a marker for downe syndrome. They said it usually takes more than one marker for the baby to be born with down syndrome but now of course we are all nervous. If any of you can tell me exactly what you know about down syndrome I would be eternally greatful. (ex: just what are these "markers" they are talking about, what "causes" down syndrome, etc). Thanks!!!

[Dawn27]

Hi

I am a midwife in the UK but I'll do my best to explain.

Down Syndrome is a genetic condition, it cannot be diagnosed from a scan alone it can only be diagnosed antenatally by carrying out a diagnostic procedure such as amniocentisis (there are others but i presume if they looked for markers the pregnancy is advancing).

Downs syndrome is known to show 'markers' on scan these include a larger pad of fat on theback of the neck, short femur bone length, bowel that shows echo's from the scan, enlarged kidneys and cardiac problems. However these may be seen and the baby has no problems after birth at all.

Amniocentisis is where a needle is pushed through Mom's abdomen into the uterus and fluid is sampled. As I said before this is really the only way to remove doubt and have an answer about Down syndrome. Your BIL's partner should discuss with her doctor the results of the scan and recommendation for further testing.

I hope that helps, if you have other questions I'll try to answer them.

[wannabeL&D]

Congrats to your brother on his baby, it sounds like you will be a great aunt. Just to reassure them, many, many (sorry don't have time to look up statistics) babies have a marker but don't in fact have DS. DS is determined from the moment of conception, so there is nothing the mother did in the pg. to cause it.

The only definitive way to tell is by amnio--and they should make an informed decision about having one. Many drs. will pressure patients to have an amnio to cover themselves, but the parents of the baby need to decide for themselves if they would want to know prior to birth. Also, they should be aware that if indeed the baby had DS, they would most likely face enormous pressure from the medical community to terminate, and probably be given outdated information.

People with DS today are leading meaningful, independent fulfilling lives. In fact I know an RN who has mosaic DS and also a scrub tech with DS. Check out trisomy21online.com or nads.org for lots of good info.

Best of luck to your brother and baby...the odds are strongly in your favor that the baby is perfectly healthy! If not, I can say from personal experience that parenting a child with Down syndrome is really not that different than parenting a typical child.

Shannon