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Informal poll on trisomy 21 screeningFrom: James Smeltzer (James.Smeltzer@wellstar.org)Mon May 16 13:38:00 2005
>>> djberck@yahoo.com 5/14/2005 9:47:48 PM >>> What's your approach to trisomy 21 screening? 1st tri screening with nose bone and NT and 1st tri screening? If so, which serum tests? free beta and papp-A AFP3 / AFP4 (based on pay status and resources of pt) / AFPMore? "Genetic scan"? AMA and increased NLT and hi risk by screen "Genetic" basic scan at 18-20 for all others. US done properly is much more informative of the pregnancy IMHO. It nails down dates, and the 12-14 week screen done by a competent sonographer finds over 75% of DS babies, the 20-22 week sonogram finds those who have cervical change already, such that we consider the cost-effective approach to be probably to do 2 scans & dispense with the chemical tests. I'm interested to hear your opinion. Not opinion but fact - in OB practice of 2000 deliveries per year we have been 5 years since delivery of unsuspected DS baby - with sonographer who is no longer with us & I tried to have fired for 2 years - stillborn. No liveborn. I have been over 9 years since last DS baby not suspected by genetic scan, or multiple markers. Last month I did pick up a DS (who the parents terminated) by fetal echo showing AV canal when normal NL, normal quad screen, sonographer had missed AV canal @18 weeks when pt inadvertently got scheduled for a basic & not targeted. My amnio rate is 1-3 per month with about 20-30% positive for aneuploid. We offer but seldom perform amnio for straightforward AMA, we will seldom miss Trisomy 21 in the non-AMA and we will do few amnios. I did have about 10 years ago a Down Syndrome baby picked up by amnio in a 35 year-old which was missed by US (by me both before and after knowing results) and missed in the nursery by a board-certified neonatologist with lots of clinical experience (Who did not believe the amnio results and repeated the kayotype because she did not believe it). Amnio is the gold standard test. Unfortunately, to get the gold, some normal babies must die in the mines. The parents should be making these calls. We have all combinations of declined and accepted tests. I hope that this means that we are doing our job by letting them do that. There is not only one rational patient or one way to skin a cat. Else we would be like Procrustes http://www.mythweb.com/encyc/entries/procrustes.html JSS Dave Berck, MD, MPH David J. Berck, MD, MPH
-- James S. Smeltzer, MD, FACOG, SMFM Consultant, Maternal Fetal Medicine Wellstar Physicians' Group Northwest Women's Care 787 Campbell Hill St Marietta GA 30060 James.Smeltzer@wellstar.org VM 678-290-3035 Off 770-528-0260 Page 404-318-3451
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