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Re: Prenatal Diagnosis of Fanconi SyndromeFrom: art fougner, md (evsono@pipeline.com)Sat Oct 4 14:16:57 1997
At Sat, 4 Oct 1997, Bulent Potur wrote: > > Dear Listmates: >Yesterday I saw for the first time a 21 weeks pregnant patient Gravida 2 >para:1 living one normal child of seven years. The patient is married with >her maternal cousin. One cousin of this couple was dead due to Fanconi >syndrome years ago. Recently they lost an 8 year old nephew due to the same >syndrome. They would like to have a prenatal diagnosis of the disease and if >positive they desire termination of pregnancy. >My questions are: >1) Is there a reliable method of detecting heterogeneity of the parents? >2) What is the state of the art method advised to diagnose Fanconi syndrome >at this gestational age. Unfortunately I am still unable to reach ACOG >website as an international subscriber to view ACOG guidelines. >Many thanks in advance.. hi hope this is useful : Pediatrics 1985 Nov;76(5):794-800 Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Auerbach AD, Sagi M, Adler B We report our experience, since 1978, with prenatal diagnosis in fetuses at risk for Fanconi anemia. Amniotic fluid cells from 30 fetuses from 24 families were monitored for baseline and diepoxybutane-induced chromosomal breakage. Seven of the fetuses at risk were diagnosed as affected; baseline and diepoxybutane-induced breakage ranged from 0.18 to 0.45 and 0.69 to 0.96 breaks per cell, respectively. The range of baseline and diepoxybutane-induced chromosomal breakage in amniocytes from the 23 pregnancies at risk that were diagnosed prenatally as unaffected ranged from 0 to 0.08 and 0 to 0.13 breaks per cell, respectively. Four of these cases were also diagnosed as normal on the basis of chromosomal breakage studies in cells obtained by chorionic villus sampling. The range of baseline and diepoxybutane-induced breakage in cells from five control fetuses was 0 to 0.05 and 0 to 0.10 breaks per cell, respectively. Of the pregnancies diagnosed as affected, two were carried to term, whereas five were terminated. One newborn and two abortuses had congenital malformations including abnormalities of the thumb and radius. The other affected live-born infant, now 5 1/2 years old, has severe growth retardation and pancytopenia. No Fanconi anemia-associated malformations were found in any of the other fetuses or newborns studied. In all cases in which tissue was available for study, diagnoses were confirmed by chromosome breakage studies. This method thus permits reliable detection of Fanconi anemia. try OMIM for other references
art
>
-- art fougner, md SonoScan/Genetic Sciences forest hills, ny evsono@pipeline.com
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