Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common congenital malformation affecting about 1/1,000 caucasian infants. Although the familial clustering of CLfP has been studied thoroughly, estimation of recurrence risk for genetic counseling purposes can be difficult. A survey was...

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Publicado: 1998
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Acceso en línea:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01487299_v79_n3_p184_Wyszynski
http://hdl.handle.net/20.500.12110/paper_01487299_v79_n3_p184_Wyszynski
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spelling paper:paper_01487299_v79_n3_p184_Wyszynski2023-06-08T15:13:12Z Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate Birth defects Cleft lip Cleft palate Congenital malformations Epidemiology Genetic counseling Oral clefts article cleft lip cleft palate diagnostic accuracy genetic counseling genetic risk medical specialist priority journal recurrent disease risk assessment Cleft Lip Cleft Palate Data Collection Diseases in Twins Genetic Counseling Genetic Predisposition to Disease Genetics, Medical Humans Risk Factors Triplets Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common congenital malformation affecting about 1/1,000 caucasian infants. Although the familial clustering of CLfP has been studied thoroughly, estimation of recurrence risk for genetic counseling purposes can be difficult. A survey was mailed to 912 board-certified genetic counselors, 542 non-board-certified genetic counselors, and 776 board-certified clinical geneticists to investigate the recurrence risks they would assign to three example families with CL/P. Responses were received from 155 (17%) board-certified genetic counselors, 36 (6.6%) non-board-certified genetic counselors, and 100 (18.5%) board-certified clinical geneticists. No major differences were found in their responses, suggesting that for these three families, geneticists would provide similar estimates of risk, regardless of their amount of experience with oral clefts patients, where they are currently employed, or their board certification status. 1998 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01487299_v79_n3_p184_Wyszynski http://hdl.handle.net/20.500.12110/paper_01487299_v79_n3_p184_Wyszynski
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic Birth defects
Cleft lip
Cleft palate
Congenital malformations
Epidemiology
Genetic counseling
Oral clefts
article
cleft lip
cleft palate
diagnostic accuracy
genetic counseling
genetic risk
medical specialist
priority journal
recurrent disease
risk assessment
Cleft Lip
Cleft Palate
Data Collection
Diseases in Twins
Genetic Counseling
Genetic Predisposition to Disease
Genetics, Medical
Humans
Risk Factors
Triplets
spellingShingle Birth defects
Cleft lip
Cleft palate
Congenital malformations
Epidemiology
Genetic counseling
Oral clefts
article
cleft lip
cleft palate
diagnostic accuracy
genetic counseling
genetic risk
medical specialist
priority journal
recurrent disease
risk assessment
Cleft Lip
Cleft Palate
Data Collection
Diseases in Twins
Genetic Counseling
Genetic Predisposition to Disease
Genetics, Medical
Humans
Risk Factors
Triplets
Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
topic_facet Birth defects
Cleft lip
Cleft palate
Congenital malformations
Epidemiology
Genetic counseling
Oral clefts
article
cleft lip
cleft palate
diagnostic accuracy
genetic counseling
genetic risk
medical specialist
priority journal
recurrent disease
risk assessment
Cleft Lip
Cleft Palate
Data Collection
Diseases in Twins
Genetic Counseling
Genetic Predisposition to Disease
Genetics, Medical
Humans
Risk Factors
Triplets
description Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common congenital malformation affecting about 1/1,000 caucasian infants. Although the familial clustering of CLfP has been studied thoroughly, estimation of recurrence risk for genetic counseling purposes can be difficult. A survey was mailed to 912 board-certified genetic counselors, 542 non-board-certified genetic counselors, and 776 board-certified clinical geneticists to investigate the recurrence risks they would assign to three example families with CL/P. Responses were received from 155 (17%) board-certified genetic counselors, 36 (6.6%) non-board-certified genetic counselors, and 100 (18.5%) board-certified clinical geneticists. No major differences were found in their responses, suggesting that for these three families, geneticists would provide similar estimates of risk, regardless of their amount of experience with oral clefts patients, where they are currently employed, or their board certification status.
title Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
title_short Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
title_full Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
title_fullStr Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
title_full_unstemmed Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
title_sort survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
publishDate 1998
url https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01487299_v79_n3_p184_Wyszynski
http://hdl.handle.net/20.500.12110/paper_01487299_v79_n3_p184_Wyszynski
_version_ 1768546154088235008