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Re: osteogenesis imperfectaFrom: ATB28@aol.comWed Jan 19 07:59:49 2000
In a message dated 01/18/1970, 9:51:45 PM, ob-gyn-l@obgyn.net writes: << I would appreciate some input on the following situation. New case 34 year old primigravida healthy 26 wks, partner has "mild" osteogenesis imperfecta. Genetics states 50% chance of fetus inheriting the disorder. So far two OB consults with 2 opinions, 18 week ultrasound normal, repeat booked for 34 weeks. A third consult at a tertiary centre is planned for later next month. What mode of delivery would you reccommend? Any other prenatal assessment that might be helpful? >> Does genetics have a test that can decide whether this baby HAS or DOES NOT HAVE the disease in question? At 26 weeks, you have plenty of time to figure it out, and then decide whether the question is moot. On the other hand, does the "mild" illness that the partner has manifest in the neonate? In fact, did the partner have fractures etc at birth or in early infancy? Joe P.>> Joe is right - you need to find out if the fetus is affected, and you have time to do it. Not all forms of OI are inherited in an autosomal dominant fashion (50% recurrence in offstpring). Some are inherited in an autosomal recessive (AR) fashion (if one parent is affected, homozygous, for AR OI, all fetuses would at least be carriers). The likelihood of the phenotypically normal parent to be a carrier (heterozygous) can be determined. The likelihood of the fetus inheriting the abnormal OI gene from a carrier parent in this case would be population incidence of AR OI x 50% (very small). On other words, risk to fetus of being affected would be as follows: 1. If affected parent has AD OI: 50% 2. If affecdted parent has AR O: (pop carrier frequency)*(50%)*(1)*(1) Good case for local Genetics input.... Allan T. Bombard, MD Oakland, CA
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