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Re: Recurrent Pregnancy Loss (RPL) From: Allen Gardner (allen.gardner@utoronto.ca) Sat Oct 26 17:46:06 1996 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: Larry Kincheloe: "Re: Female infibulation" Previous message: Andrea Christianson: "re-introdcuction" Maybe in reply to: RICARDO FRANCALACCI SAVARIS: "Recurrent Pregnancy Loss (RPL)" Dear Ricardo, I almost always interpret this as being unrelated to the multiple miscarriage history. X chromosome aneuploidy in low numbers such as this are fairly frequently seen, and she is getting pregnant. With a true Turner's mosaicism the problem would probably be infertility. However my report would state that if you still thought that a chromosome disorder probably does explain the misscarriages then fibroblast chromosome studies on a skin biopsy should be considered. I think examining another blood or counting more cells won't help as much. This lady has another most probable explantion for the misses, and I would investigate that before genetic counselling or more chromosome studies. Hope this helps. Allen. -- Allen Gardner MD Genetics Oshawa General Hospital Oshawa, Ontario, Canada 905 433 2733 > A 35 year old, female with 3 provoked abortions and 2 spontaneous in the > first trimester. I did my routine work up and yesterday she came with > something totally unexpected for me. > She is 46 XX and 45 X0 (28/2, respectively), i.e., according to the > geneticist, from 30 examined cells, only 2 had 45XO. Besides that, she has a > luteal phase defect confirmed by 2 endometrial byopsies. > > So, I confess that I never dealt with this case before, as far as I am > concerne, she is a mosaic, I sent her for genetical counseling, and if she > became pregnant again, utrogestan (progesterone support)for 14 weeks. If she > aborts, I strongly reccomended for kariotyping the fetus. > > What is your opion? > > Ricardo Savaris,MD,MSc > Porto Alegre, RS > Brazil > e.mail: savaris@orion.ufrgs.br > Tel.: 55 51 981 2272 > Next message: Larry Kincheloe: "Re: Female infibulation" Previous message: Andrea Christianson: "re-introdcuction" Maybe in reply to: RICARDO FRANCALACCI SAVARIS: "Recurrent Pregnancy Loss (RPL)"

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