36 year old G4P4 dependent female spouse from a Catholic family delivered a Down's
Syndrome baby 6 weeks ago; here for follow- up. Mother explained to me that she did the sequential test part 1 at 11 weeks and tested positive for being high risk. She was given several
level 2 ultrasounds throughout the pregnancy and was told everytime that there was no indication for Down's. Unfortunetly, when the baby was born it was obvious that the child had Down's Syndrome. The mother was very distressed and was crying throughout the visit, I'm glad my preceptor was there to manage the visit because I didn't know what to say. So, 2 lessons where learned during this visit; the first: kids are born with Down's eventhough we have all these fancy test and the second: know what to say when a mother starts crying and telling you that her kid has Down's...
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As I read this case I wonder if she had been offered/declined genetic counseling/amnio, because as we know, this would have given her a definitive diagnosis. In fact, I just learned from the NICHD (Facts about Down Syndrome), that there is one other test in addition to CVS and Amnio that can be done to confirm the diagnosis, but I don't know whether it's offered in the MHS.
ReplyDeletehttp://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm#ADiagnosis:
DIAGNOSTIC TESTS FOR DOWN SYNDROME
PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS)
Most accurate method used to confirm the results of CVS or amniocentesis.
The tissue is tested for the presence of extra material from chromosome 21
PUBS cannot be done until the 18-22nd week
Carries the greatest risk of miscarriage
However, we also know that some women/couples may not want to risk the chance of miscarriage. This goes back to another thread though of how important it is to counsel women on how serum testing (and NTs on US) is a screening test only, not diagnostic. They further need to consider if they would be willing to go through with the diagnostic tests to confirm abnormal serum findings. Very sad case :(