Issues surrounding prenatal genetic testing for achondroplasia

Holly C. Gooding, Karina Boehm, Richard Thompson, Don Hadley, Clair Ann Francomano, Barbara Bowles Biesecker

Research output: Contribution to journalArticle

Abstract

Objectives: Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most prevalent form of dwarfism. Since the discovery of the mutations and gene in 1994, commercial testing has been available for use in prenatal diagnosis. This study sought to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia. Methods: Surveys were collected from both individuals affected with achondroplasia (n = 189) and their average statured relatives (n = 136). Results: The majority of participants were aware of the prenatal genetic testing at the time they were surveyed, but less than 10% had actually used the testing. Affected individuals were much more interested in using the testing if they became pregnant (62%) than were their relatives (28%). The groups were remarkably similar in their interest in using the testing to identify the lethal, homozygous form of achondroplasia and in their unwillingness to consider termination of pregnancies based on a diagnosis of either achondroplasia or average stature. Affected status and perception of the condition were correlated with the importance placed on knowing the prenatal diagnoses of achondroplasia and average stature. Views on abortion were highly correlated with all aspects of interest in prenatal diagnosis for achondroplasia. Conclusion: These results elucidate the role of selected attitudes and beliefs that contribute to reproductive decision making about achondroplasia. Furthermore, the findings provide insights into education and counseling issues for families and health care practitioners.

Original languageEnglish (US)
Pages (from-to)933-940
Number of pages8
JournalPrenatal Diagnosis
Volume22
Issue number10
DOIs
StatePublished - Oct 1 2002

Fingerprint

Achondroplasia
Genetic Testing
Prenatal Diagnosis
Receptor, Fibroblast Growth Factor, Type 3
Dwarfism
Mutation
Family Health
Genetic Association Studies
Counseling
Decision Making
Delivery of Health Care
Education
Pregnancy

Keywords

  • Achondroplasia
  • Illness perception
  • Prenatal genetic testing
  • Reproductive decisions

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Issues surrounding prenatal genetic testing for achondroplasia. / Gooding, Holly C.; Boehm, Karina; Thompson, Richard; Hadley, Don; Francomano, Clair Ann; Biesecker, Barbara Bowles.

In: Prenatal Diagnosis, Vol. 22, No. 10, 01.10.2002, p. 933-940.

Research output: Contribution to journalArticle

Gooding, Holly C. ; Boehm, Karina ; Thompson, Richard ; Hadley, Don ; Francomano, Clair Ann ; Biesecker, Barbara Bowles. / Issues surrounding prenatal genetic testing for achondroplasia. In: Prenatal Diagnosis. 2002 ; Vol. 22, No. 10. pp. 933-940.
@article{611e60e0766a496f8961582bc83147d1,
title = "Issues surrounding prenatal genetic testing for achondroplasia",
abstract = "Objectives: Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most prevalent form of dwarfism. Since the discovery of the mutations and gene in 1994, commercial testing has been available for use in prenatal diagnosis. This study sought to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia. Methods: Surveys were collected from both individuals affected with achondroplasia (n = 189) and their average statured relatives (n = 136). Results: The majority of participants were aware of the prenatal genetic testing at the time they were surveyed, but less than 10{\%} had actually used the testing. Affected individuals were much more interested in using the testing if they became pregnant (62{\%}) than were their relatives (28{\%}). The groups were remarkably similar in their interest in using the testing to identify the lethal, homozygous form of achondroplasia and in their unwillingness to consider termination of pregnancies based on a diagnosis of either achondroplasia or average stature. Affected status and perception of the condition were correlated with the importance placed on knowing the prenatal diagnoses of achondroplasia and average stature. Views on abortion were highly correlated with all aspects of interest in prenatal diagnosis for achondroplasia. Conclusion: These results elucidate the role of selected attitudes and beliefs that contribute to reproductive decision making about achondroplasia. Furthermore, the findings provide insights into education and counseling issues for families and health care practitioners.",
keywords = "Achondroplasia, Illness perception, Prenatal genetic testing, Reproductive decisions",
author = "Gooding, {Holly C.} and Karina Boehm and Richard Thompson and Don Hadley and Francomano, {Clair Ann} and Biesecker, {Barbara Bowles}",
year = "2002",
month = "10",
day = "1",
doi = "10.1002/pd.437",
language = "English (US)",
volume = "22",
pages = "933--940",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "10",

}

TY - JOUR

T1 - Issues surrounding prenatal genetic testing for achondroplasia

AU - Gooding, Holly C.

AU - Boehm, Karina

AU - Thompson, Richard

AU - Hadley, Don

AU - Francomano, Clair Ann

AU - Biesecker, Barbara Bowles

PY - 2002/10/1

Y1 - 2002/10/1

N2 - Objectives: Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most prevalent form of dwarfism. Since the discovery of the mutations and gene in 1994, commercial testing has been available for use in prenatal diagnosis. This study sought to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia. Methods: Surveys were collected from both individuals affected with achondroplasia (n = 189) and their average statured relatives (n = 136). Results: The majority of participants were aware of the prenatal genetic testing at the time they were surveyed, but less than 10% had actually used the testing. Affected individuals were much more interested in using the testing if they became pregnant (62%) than were their relatives (28%). The groups were remarkably similar in their interest in using the testing to identify the lethal, homozygous form of achondroplasia and in their unwillingness to consider termination of pregnancies based on a diagnosis of either achondroplasia or average stature. Affected status and perception of the condition were correlated with the importance placed on knowing the prenatal diagnoses of achondroplasia and average stature. Views on abortion were highly correlated with all aspects of interest in prenatal diagnosis for achondroplasia. Conclusion: These results elucidate the role of selected attitudes and beliefs that contribute to reproductive decision making about achondroplasia. Furthermore, the findings provide insights into education and counseling issues for families and health care practitioners.

AB - Objectives: Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most prevalent form of dwarfism. Since the discovery of the mutations and gene in 1994, commercial testing has been available for use in prenatal diagnosis. This study sought to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia. Methods: Surveys were collected from both individuals affected with achondroplasia (n = 189) and their average statured relatives (n = 136). Results: The majority of participants were aware of the prenatal genetic testing at the time they were surveyed, but less than 10% had actually used the testing. Affected individuals were much more interested in using the testing if they became pregnant (62%) than were their relatives (28%). The groups were remarkably similar in their interest in using the testing to identify the lethal, homozygous form of achondroplasia and in their unwillingness to consider termination of pregnancies based on a diagnosis of either achondroplasia or average stature. Affected status and perception of the condition were correlated with the importance placed on knowing the prenatal diagnoses of achondroplasia and average stature. Views on abortion were highly correlated with all aspects of interest in prenatal diagnosis for achondroplasia. Conclusion: These results elucidate the role of selected attitudes and beliefs that contribute to reproductive decision making about achondroplasia. Furthermore, the findings provide insights into education and counseling issues for families and health care practitioners.

KW - Achondroplasia

KW - Illness perception

KW - Prenatal genetic testing

KW - Reproductive decisions

UR - http://www.scopus.com/inward/record.url?scp=0036796087&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036796087&partnerID=8YFLogxK

U2 - 10.1002/pd.437

DO - 10.1002/pd.437

M3 - Article

VL - 22

SP - 933

EP - 940

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 10

ER -