Re: Just had newborn daughter and 3yr old son diagnosedw/2 diff. types CAH
10/9/01 3:27 PM

Hi Adina,

I think it is possible to have children with different forms of CAH, even if it is statistically highly improbable.  I'm wondering about something else, though, and that is whether or not your daughter ever had follow-up testing to confirm her diagnosis of SWCAH.  I noticed that you mentioned she had her newborn screening test done 5 hours after birth?  From the AAP Policy on newborn screening, an excerpt from which I've pasted below, it sounds like samples are ideally gotten between day 2-3.  Sooner than that, and they might be abnormally elevated.  It sounds like your daughter was obviously above the threshhold for a diagnosis of CAH, but I'm wondering if it's possible that getting her heel pricked so early in life made her numbers appear even higher than they might otherwise be and that she and your son have the same type, after all??

Hmmmmm.....probably not what a new mother needs---something else to think about---but if she actually has a less severe form of CAH, it might end up being good news for you (right??!!)  Anyway, congratulations on your new addition!

Newborn Screening Procedures and Cost Analysis

Neonatal screening for CAH requires the following procedures for optimal efficiency and effective screening results: 1) early sample collection, ideally between 2 and 3 days of life; 2) immediate and reliable analysis of 17-OHP levels after sample collection; 3) optimally chosen 17-OHP cutoff levels that distinguish affected from unaffected newborns; 4) immediate and clear communication of presumptive positive results to the appropriate health care professional and to family members; and 5) diagnostic confirmation of newborns with positive screening results.

......Although most screening samples for CAH had been collected between 3 and 5 days after birth,59,62 recent practices of early discharge from the nursery and increased numbers of deliveries at birthing centers have resulted in many screening samples being collected at 1 to 2 days after birth. This may result in an increased number of false-positive tests....

Carol
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