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

Diego F. Wyszynski, Joanna Zeiger, Maddalena T. Tilli, Joan E. Bailey-Wilson, Terri H. Beaty

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)184-190
Number of pages7
JournalAmerican journal of medical genetics
Volume79
Issue number3
DOIs
StatePublished - Sep 23 1998

Keywords

  • Birth defects
  • Cleft lip
  • Cleft palate
  • Congenital malformations
  • Epidemiology
  • Genetic counseling
  • Oral clefts

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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