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Re: 45 X From: art fougner, md (evsono@pipeline.com) Wed Apr 29 15:32:04 1998 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: DuBose, Terry: "New case studies" Previous message: LO2WRITE: "Re: GYN: Breast self examination cards" In reply to: Robert Brenner: "Re: FRI Re: Olestra - WOW" don't know if this helps but this reference is apropos - Ultrasound Obstet Gynecol 1996 Nov;8(5):325-328 45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counselling. Lazebnik N, Filkins KA, Jackson CL, Linn KB, Doshi NN, Hogge WA Department of Genetics, Magee-Womens Hospital, Pittsburg, PA 15213, USA. The purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for 45,X/46,XY mosaicism. Cases were divided on the basis of the results of the confirmatory amniocentesis into two groups: (1) confined placental mosaicism (n = 4); and (2) true fetal 45,X/46,XY mosaicism (n = 4). All patients underwent high-resolution detailed ultrasound study between 16 and 22 weeks. If the initial ultrasound study failed to visualize fetal genitalia, scanning was repeated in 2 weeks. Chromosome analysis was carried out on the newborn's skin to confirm the prenatal result. Six cases were found to have 45,X/46,XY mosaicism on chorionic villus sampling. Amniocentesis indicated a normal 46,XY male karyotype for three fetuses and true fetal 45,X/46,XY mosaicism for two cases. One patient declined follow-up amniocentesis. At birth, this newborn was documented to have normal male genitalia and a 46,XY karyotype. An additional two cases underwent amniocentesis only and were documented to have 45,X/46,XY mosaicism. High-resolution detailed ultrasound study between 16 and 22 weeks revealed seven fetuses with normal male genitalia and one fetus with ambiguous genitalia. Of the four neonates with true 45,X/46,XY mosaicism this was the only one found to have ambiguous genitalia. We conclude that the work-up of patients with 45,X/46,XY mosaicism should include ultrasound study to look for ambiguous genitalia. This allows appropriate counselling regarding the natural history of the condition and aids in the planning for management in the postnatal period. PMID: 8978006, UI: 97132554 good luck art At Wed, 29 Apr 1998, Prof. Carlos Santos Jorge wrote: > >-----Mensagem original----- >De: Carlos Alberto Porta <caporta@interactive.com.ar> >Para: Multiple recipients of list <ob-gyn-l@talk.obgyn.net> >Data: Sexta-feira, 24 de Abril de 1998 19:43 >Assunto: 45 X > >>Hi all! >>Has anybody experience about the following mosaic in a amniotic fluid >culture: >> >>46 XY / 45 X (2:1) >> >>The baby (current pregnancy 20 weeks) is well, eventhough the prognosis is >>not so optimist. >> >>Advanced thanks. >>Carlos Alberto Porta MD >>Buenos Aires, Argentina >>TEL: 54-1-659-8292 >>FAX: 54-1-460-0375 >>gineco@tripod.net >> >>************************************* >>Clinica Virtual Ginecologica >>http://members.tripod.com/~gineco >>************************************* >>Hospital Virtual de Moron >>http://members.tripod.com/~medmoron >>************************************* >> >>Dear Dr. Porta, >Several months ago we had a similar case of mosaic in the amniotic fluid >culture as the one you mentioned. >I wonder if you had the chance (as we had) to perform a ultrasound early in >first trimestrer. It could very well be a case of a "vanishing twin" as it >was in our case. >Does the pelvic U.S. scan of the fetus reveals anything? A cordocenteses >could also be interesting to draw fetal blood to have a cariotype and see if >the same two cellular lines are actually present in the baby. In our case we >did that and to our incial surprise the baby was totally normal. Of course, >if the mosaic remains in the fetal bloof it means it is a real Turner >although a normal cariotype does not mean that it is not ( in our case the >new born examination was normal) but even if it is the prognosis is much >better, excluding sterility of course. >After the babys's birth a pelvic U.S. scan or a CAT could be interesting as >to inlight about the gonada and it would be helpfull also to have a skin >biopsy. >I would like to know the follow up of this case if you are so kind as to >contact me again and give me this information. >Sincerely yours, > >Prof. Dr. Carlos Santos Jorge >President of the Portuguese Society of Prenatal Diagnosis >Dep. of Obstetrics and Maternal-fetal Medicine >Institute of Biomedical Sciences >University of Oporto, Portugal >csjorge@mail2.esoterica.pt -- art fougner, md SonoScan/Genetic Sciences forest hills, ny evsono@pipeline.com Next message: DuBose, Terry: "New case studies" Previous message: LO2WRITE: "Re: GYN: Breast self examination cards" In reply to: Robert Brenner: "Re: FRI Re: Olestra - WOW"

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