Genetic counseling issues in urea cycle disorders.
The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, and decision-making in a nondirective way. A proper understanding of the genes involved, inheritance patterns, available testing, and complicating factors is critical to serving the families' needs. This article summarizes the needed information, in particular describing the complexities of prenatal testing and counseling issues for each UCD. Included case histories illustrate the genetic counseling process and the decision-making scenarios for two families.
Sniderman King
Lisa
L
Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA.
Singh
Rani H
RH
Rhead
William J
WJ
Smith
Wendy
W
Lee
Brendan
B
Summar
Marshall L
ML
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis / Q000235:genetics; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014508:Urea / Q000378:metabolism*
D014508:Urea