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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00005016 |
This study will examine the experiences of parents who decided to continue a pregnancy after receiving a prenatal diagnosis of holopresencephaly (HPE). HPE results from a genetic defect that can cause facial abnormalities such as cleft lip and cleft palate, learning disabilities, muscle weakness, problems with digestion, sleep and muscle control, and other disabilities. The severity of symptoms varies greatly among affected children.
Parents whose child was diagnosed before birth with HPE may be eligible for this study. It involves a one-time interview that takes from about 45 to 60 minutes. The interview is conducted either in person or by telephone and consists of three parts, as follows:
Information from this study will provide health professionals, including genetic counselors, more effective strategies for helping other parents who face similar prenatal diagnoses.
Condition |
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Holoprosencephaly |
Study Type: | Observational |
Official Title: | The Experiences and Needs of Parents Continuing a Pregnancy Following Abnormal Prenatal Results: The Case of Holoprosencephaly |
Estimated Enrollment: | 30 |
Study Start Date: | March 2000 |
Estimated Study Completion Date: | February 2001 |
Holoprosencephaly (HPE) is a condition that when found prenatally offers parents a poor but often uncertain prognosis for their baby. Parents that continue the pregnancy given this diagnosis are left to endure the remainder of the pregnancy and the ambiguity involved in this highly variable condition. Previous studies have examined the psychological and social impact of prenatal diagnosis on parents and the outcomes of the pregnancy in conditions such as Down syndrome and sex chromosome abnormalities. Because the majority of parents receiving abnormal prenatal information terminate their pregnancies, most studies have focused on these parents' experiences, specifically the mothers'. However, little is known about the experiences of parents (both fathers and mothers) continuing a pregnancy given abnormal prenatal information especially in highly variable conditions such as HPE.
In this study, the experiences and needs of parents who received the diagnosis of HPE prenatally will be explored. Study participants will be drawn from several sites that include an existing molecular diagnostic protocol for HPE at the University of Pennsylvania, clinical patients seen at the University of Michigan, HPE family resources, and an upcoming conference on HPE to be held in April of 2000. Through semi-structured interviews, fathers and mothers of children with HPE who were diagnosed prenatally will be asked to talk individually about their experiences of receiving the diagnosis and continuing with the pregnancy. Their perceived informational, emotional and supportive needs at that time will be explored. In addition, their thoughts on the health care professionals' role in meeting these needs will be discussed. A brief questionnaire following the interview will gather quantitative data to serve as descriptors of the population and to help interpret the qualitative findings. The questionnaire includes demographic questions as well as a scale measuring tolerance for ambiguity and questions regarding the parent's perceived severity of their child's diagnosis of HPE.
Interviews will be analyzed qualitatively through thematic analysis. Specifically, recurring themes that emerge from interview transcripts will be analyzed for content and patterns. In addition, descriptive statistics will be applied to the questionnaire data and will be used to aid in the interpretation of the qualitative findings. An exploration of the experiences and needs of fathers and mothers who receive the diagnosis of HPE prenatally will offer a better understanding for health care professionals, specifically genetic counselors, regarding their role in working with parents continuing a pregnancy given prenatal information about a fetal anomaly.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Parents, both fathers and mothers, of a child with HPE if they received their child's diagnosis of HPE prenatally either through ultrasound or prenatal testing such as CVS or amniocentesis.
Must have continued pregnancy after HPE diagnosis.
Must be over the age of 18.
Will not be excluded on the basis of single-parent status or of refusal of one parent to participate.
Study ID Numbers: | 000104, 00-HG-0104 |
Study First Received: | April 4, 2000 |
Last Updated: | March 3, 2008 |
ClinicalTrials.gov Identifier: | NCT00005016 |
Health Authority: | United States: Federal Government |
Fetal Anomaly Genetic Counseling Prenatal Diagnosis Psychosocial Issues |
Qualitative HPE Holoprosencephaly |
Chromosomal abnormalities Genetic Diseases, Inborn Musculoskeletal Diseases Nervous System Malformations Holoprosencephaly |
Craniofacial Abnormalities Chromosome Disorders Abnormalities, Multiple Congenital Abnormalities Musculoskeletal Abnormalities |
Nervous System Diseases |