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Pitfalls in Genetic Counseling for Childhood Disorders: The Pediatrician's Role

Pitfalls in Genetic Counseling for Childhood Disorders: The Pediatrician's Role Abstract Sir.—When a genetic disorder is diagnosed during childhood, the focus is on the delineation of clinical features, treatment, and prognosis for the proband. In addition, genetic counseling for the parents also deals with the risk for recurrence and the significance of the diagnosis for other children and family members when they reach their childbearing years. Although pertinent information is usually fully discussed and summarized in a follow-up letter, discussions with the intellectually normal probands are deferred until an appropriate age. As the probands and their siblings reach late adolescence and early adulthood, they have been found to be not adequately informed, and do not appreciate the full impact of the disorder or its reproductive significance. The parents tend to avoid conveying this information and arranging for followup genetic counseling despite receiving a genetic counseling summary letter with instructions to preserve it for future use. The three cases presented herein References 1. Segall M, Shapiro LR, Friedman W, Boone JA. XO/XY gonadal dysgenesis and gonadaloblastoma in childhood . Obstet Gynecol . 1973;41: 536-541. 2. Shapiro LR, Graves ZR, Warburton D, Huss HA. Gonadal dysgenesis in association with autosomal chromosome aberration . Birth Defects . 1978;14:167-170. 3. Warburton D, Henderson AS, Shapiro LR, Hsu LYF. A stable human dicentric chromosome t dic (12;14)(p13;p13) including an intercalary satellite region between centromeres . Am J Hum Genet . 1973;25;439-445. 4. Shapiro LR, Farnsworth PC. Down's syndrome in twins . Clin Genet . 1972;3:364-370.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Pitfalls in Genetic Counseling for Childhood Disorders: The Pediatrician's Role

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References (5)

Publisher
American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1993.02160350127020
Publisher site
See Article on Publisher Site

Abstract

Abstract Sir.—When a genetic disorder is diagnosed during childhood, the focus is on the delineation of clinical features, treatment, and prognosis for the proband. In addition, genetic counseling for the parents also deals with the risk for recurrence and the significance of the diagnosis for other children and family members when they reach their childbearing years. Although pertinent information is usually fully discussed and summarized in a follow-up letter, discussions with the intellectually normal probands are deferred until an appropriate age. As the probands and their siblings reach late adolescence and early adulthood, they have been found to be not adequately informed, and do not appreciate the full impact of the disorder or its reproductive significance. The parents tend to avoid conveying this information and arranging for followup genetic counseling despite receiving a genetic counseling summary letter with instructions to preserve it for future use. The three cases presented herein References 1. Segall M, Shapiro LR, Friedman W, Boone JA. XO/XY gonadal dysgenesis and gonadaloblastoma in childhood . Obstet Gynecol . 1973;41: 536-541. 2. Shapiro LR, Graves ZR, Warburton D, Huss HA. Gonadal dysgenesis in association with autosomal chromosome aberration . Birth Defects . 1978;14:167-170. 3. Warburton D, Henderson AS, Shapiro LR, Hsu LYF. A stable human dicentric chromosome t dic (12;14)(p13;p13) including an intercalary satellite region between centromeres . Am J Hum Genet . 1973;25;439-445. 4. Shapiro LR, Farnsworth PC. Down's syndrome in twins . Clin Genet . 1972;3:364-370.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: Nov 1, 1993

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