Genetic Counseling Issues in Urea Cycle Disorders - 18/08/11

Doi : 10.1016/j.ccc.2005.08.001

Lisa Sniderman King, MSc ^a,^⁎ , Rani H. Singh, PhD, RD ^b, William J. Rhead, MD, PhD ^c, Wendy Smith, MD ^d,^e, Brendan Lee, MD, PhD ^f, Marshall L. Summar, MD ^g
^a Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA
^b Division of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
^c Departments of Pediatrics and Pathology, Medical College of Wisconsin, Milwaukee, WI, USA
^d Division of Genetics, The Barbara Bush Children's Hospital, Maine Medical Center, Division of Genetics, Maine Pediatric Specialty Group, Portland, ME, USA
^e Department of Pediatrics, Division of Genetics, Maine Pediatric Specialty Group, Portland, ME, USA
^f Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
^g Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA

^⁎Corresponding author. Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA 98195

Résumé

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.

Le texte complet de cet article est disponible en PDF.

Plan

Genetic patterns

Diagnostic testing

Prenatal sampling techniques

Analysis techniques

Case 1: Carbamyl phosphate synthetase deficiency

Family history

Counseling considerations

Case 2: Ornithine transcarbamylase deficiency

Family history

Counseling considerations

Treatment course

Discussion

Counseling issues—prenatal testing

Counseling issues—carrier testing

Summary

Dr. Summar acknowledges the support of NIH grants MOI-RR-0095 and U54-RR-019453.
Complete financial disclosure information for each author is provided in the frontmatter of this supplement on page iii.