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Re: Cystic fibrosis and neural tube defectsFrom: ATB28@aol.comThu Aug 22 06:22:41 1996
In a message dated 96-08-20 22:49:36 EDT, dnvbuck@rof.net (David and Valerie Buck) writes: << ather's side. There are no effected sibs or parents. 1. ACOG would say use regular folate (0.4 mg); Do you agree? 2. Would you recommend screening for only the woman and assume he is heterozygous and then do an amnio or CVS if she is heterozygous? Dave dnvbuck@rof.net >> ** Supplement with folate per ACOG and ACMG guidelines ** Screen BOTH parents; you didn't mention ethnic background/race, but the heterozygote frequency may be as great as 2.5% in the mother - who has a negative family history. Once you have delineated CF allele status, you and/or your genetic counselor can then provide better risk assessment for this couple, as well as a better management plan when pregnancy occurs ** The disadvantage of CVS is, of course, a lack of ability to assess AF-AFP; alternatively, the advantage for CF is earlier diagnosis. If the couple proves to be at risk for both conditions, you should consider offering this woman amniocentesis at >12 weeks' gestation ("early amnio"). ** Kudos on your doing the counseling pre-conceptually for this couple. It makes the life of the geneticist much less hectic! ATB Allan T. Bombard, MD Director, Division of Reproductive Genetics Department of Obstetrics & Gynecology Albert Einstein College of Medicine and the Montefiore Medical Center 1695 Eastchester Road; Suite 301 Bronx, NY 10461
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