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Re: Ceredase and pregnancyFrom: fuf@gulf.netTue May 14 21:11:09 1996
Allan, Thanks for your comments
>Gary, Good point. I think the current prep is recombinant in origin (I am not sure). Therefore placental contamination should be absent. Correct me if I'm wrong on that point. I personally never let a genetic consultation patient who is presumed pregnant leave my office without proof of the presence of a fetal heart or viable gestation. We have the ability to do quick fetal heart - crown rump checks at no charge to the patient. We charge them later for the anatomy scan in the second trimester or for ultrasound guidance of CVS. The precise dating information saves our practice a lot of time and money and may save extensive effort if the pregnancy is not viable. This patient has a CRL consistent with 7.5 menstrual weeks and fetal heart activity.
>Also, have This patient has not had mutation analysis. Interestingly, her husband is also her 1st cousin once removed (In some areas of the South, "first cousin once removed" is defined as coitus interruptus). The patient is half Jewish and the husband is not. This probably decreases the prior probability of 1/16 that he is a carrier. He will get screened for common mutations, but in the non-Jewish population, the yield is a bit lower. Mom cannot afford mutation analysis (more expensive for affected and dad will still have to be tested) and I doubt Medicaid will cover it. Any chance the group at Emory might be interested in studying the molecular basis of the disease in this family? The patient would not terminate the pregnancy for an affected fetus. Therefore, knowledge of the phenotype of the baby before birth would do little to affect its health. Thanks again, Gary Gary E. Kleinman, MD Perinatologist/Geneticist University of FL/Pensacola 5045 Carpenter Creek Drive Pensacola, FL 32503 904 484-9400
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