Stefanie B. Uhrich

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The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of 1. providing preconception reproductive options 2. improving pregnancy outcome and identifying reproductive choices 3. reducing morbidity and mortality in the(More)
The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of(More)
Previously published reports have indicated that idiopathic polyhydramnios may be associated with trisomies 18 and 21 and that chromosomal analysis is indicated. Furthermore, the natural history and fetal outcome of polyhydramnios diagnosed in early gestation have not been well delineated. We identified 138 pregnancies with polyhydramnios prior to 26 weeks'(More)
PURPOSE To determine whether there is a relationship between the presence of an echogenic intracardiac focus in 2nd-trimester fetuses and trisomy 21 (Down syndrome). MATERIALS AND METHODS A complete genetic ultrasonographic (US) scan was obtained in 3,303 consecutive fetuses with an estimated gestational age of 14.0-24.0 weeks (mean +/- SD, 17.1 weeks +/-(More)
PURPOSE To compare two ultrasonographic (US) methods for prenatal detection of fetal Down syndrome. MATERIALS AND METHODS Genetic amniocentesis was successfully performed in 3,303 consecutive women with high-risk pregnancies (mean gestational age, 17.1 weeks). All patients underwent a complete "genetic US" examination prospectively. Risk was assessed by(More)
BACKGROUND To identify quantitative MRI parameters associated with diffusion tensor imaging (DTI) and fast bound-pool fraction imaging (FBFI) that may detect alterations in gray matter and/or white matter in adults with Fabry disease, a lysosomal storage disorder. MATERIALS AND METHODS Twelve healthy controls (mean age ± standard deviation: 48.0 ± 12.4(More)
The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of(More)
The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine,(More)
1. Prader A, Auricchio S, Muerset G. D rchfall infolge hereditären Mangels an intestinaler Saccharaseaktivität (Saccharoseintoleranz). Schweizerischen Mediz Wochenschr 1961;91:465–75. 2. Robayo-Torres CC, Opekun AR, Quezada-Calvillo R, et al. 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented(More)
PURPOSE To confirm that cerebellar hypoplasia is ultrasonographically recognizable in second-trimester fetuses with Down syndrome and determine whether the combination of frontal lobe shortening and cerebellar hypoplasia is superior to either measurement alone as a marker of this abnormality. MATERIALS AND METHODS The frontothalamic distance (FTD) and(More)