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A Qualitative Description of Receiving a Diagnosis of Clefting in the Prenatal or Postnatal Period

  • Original Research
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Journal of Genetic Counseling


This study investigated the experience of receiving a diagnosis of clefting in the prenatal or postnatal period. Open-ended interviews were conducted with 20 parents of children with cleft lip with or without cleft palate. Interviews were transcribed and analyzed using a qualitative descriptive approach with an emphasis on thematic analysis. Common themes emerged from participants’ responses regarding the delivery of the diagnosis, preparation for the birth of their child, advantages and disadvantages of prenatal diagnosis, use of the Internet, views on abortion and genetic testing, among other issues. All participants in the prenatal group indicated they were satisfied they learned of the cleft before the birth of their child. Some participants in the postnatal group would rather have received the diagnosis prenatally, while others were content with learning of the diagnosis in the delivery room. Greater awareness of the parental experience of the timing of receiving a cleft diagnosis may assist health care professionals in providing care for these families.

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We gratefully thank the participants for offering both their time and insight for this research study. Thanks to Dr. Katherine Neiswanger for her helpful comments on an earlier draft of this paper. This research was funded by grants from the National Insititute of Dental and Craniofacial Research/NIH (R01-DE016148, P50-DE016215), and by internal research development funds of the University of Pittsburgh Center for Craniofacial and Dental Genetics.

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Corresponding author

Correspondence to Mary L. Marazita.

Additional information

This study was conducted in partial fulfillment of the requirements for the first author’s master of science degree from the University of Pittsburgh and presented at the National Society of Genetic Counselors 24th Annual Education Conference, November 12–15, 2005.



Interview Guide (Demographics Questions Removed)

  1. 1.

    Tell me the story of how you first found out about your child’s cleft.

  2. 2.

    Was she/he born with other health problems in addition to the cleft?

  3. 3.

    Which week in pregnancy were you informed of [child]’s cleft?

  4. 4.

    Who informed you of [child]’s cleft and what were you thinking when you heard of the diagnosis?

  5. 5.

    How did you feel about the way the doctor told you about the diagnosis?

  6. 6.

    What about how the doctor told you made you feel comfortable?

  7. 7.

    What do you think would be the ideal way for a doctor to tell his patient about a cleft on an ultrasound? (Adjusted for postnatal group)

  8. 8.

    Going in to the ultrasound had you thought about the possibility that something might be seen by the doctor? (Asked of prenatal participants only)

  9. 9.

    How soon after the diagnosis or birth did someone on the cleft team counsel you?

  10. 10.

    How did the prenatal diagnosis affect the rest of the pregnancy? (Asked of prenatal participants only)

  11. 11.

    Did you meet with a genetic counselor to discuss your child’s cleft? What did you find valuable from this encounter?

  12. 12.

    How prepared were you in general for your baby’s arrival at the time of birth?

  13. 13.

    Describe your (thoughts) feelings during the first week of [child]’s life.

  14. 14.

    Describe your (thoughts) feelings after [child] had his/her first surgery performed.

  15. 15.

    People have many ideas about what causes a cleft lip. What are your thoughts about what may have caused your child’s cleft lip?

  16. 16.

    When parents are given a diagnosis that their child has a cleft lip, many thoughts about the pregnancy and raising a child who will need multiple surgeries crosses their mind. Some parents consider ending the pregnancy and some parents don’t. Could you tell me your thoughts about this issue?

  17. 17.

    If you were to have another child how would you feel about utilizing prenatal diagnosis?

  18. 18.

    What do you feel are the advantages and disadvantages of prenatal diagnosis?

  19. 19.

    Do you believe that prenatal diagnosis made the adjustment to [child]’s diagnosis of cleft lip easier than if the diagnosis were given at the time of birth? How? (Asked of prenatal participants only)

  20. 20.

    How did having a prenatal diagnosis help you explain to your family that your baby would be born with a cleft lip? (Asked of prenatal participants only)

  21. 21.

    What were the roles or responsibilities that you and your husband (wife) took on surrounding the time of your child’s diagnosis? How were decisions made for your family at that time? (involvement of husband/wife)

  22. 22.

    Did you tell friends in addition to family members about the cleft before your child was born? (Asked of prenatal participants only)

  23. 23.

    If you accessed the Internet to obtain information regarding cleft lip and/or palate, was the information you found helpful? How do you feel this information helped you understand more about cleft lip and/or palate?

  24. 24.

    If a genetic test were to become available in the future would you utilize the test to determine your risk for having a child with a cleft?

  25. 25.

    What would be your recommendations to the cleft team on the process of telling parents about their child’s cleft?

  26. 26.

    Should parents meet with another parent who has had a child born with a cleft?

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Nusbaum, R., Grubs, R.E., Losee, J.E. et al. A Qualitative Description of Receiving a Diagnosis of Clefting in the Prenatal or Postnatal Period. J Genet Counsel 17, 336–350 (2008).

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