1 marker for down syndrome?

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.

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had DS, they would most likely face enormous pressure from the medical community to terminate, and probably be given outdated information.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